Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach

Editorial Material Hematology

PLaCatinG AML1-ETO Comment

Mohammad Azam

Summary: In this study, it is shown that AML1-ETO-driven acute myeloid leukemia relies on PLCG1, which is induced directly by AML1-ETO. This finding provides evidence that PLCG1 can be a potential therapeutic target in this subset of AML.

BLOOD (2022)

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Review Genetics & Heredity

Navigating the pitfalls of applying machine learning in genomics

Sean Whalen et al.

Summary: This review discusses common pitfalls encountered when applying supervised machine learning in genomics, emphasizing how the structure of genomics data can bias performance evaluations and predictions. It also presents solutions and appropriate use cases to address the challenges associated with applying cutting-edge ML methods to genomics.

NATURE REVIEWS GENETICS (2022)

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Article Biochemistry & Molecular Biology

Impact of phospholipase C β1 in glioblastoma: a study on the main mechanisms of tumor aggressiveness

Stefano Ratti et al.

Summary: This study aims to determine the pathological impact of PLC beta 1 in glioblastoma. The results showed that PLC beta 1 gene expression correlates with glioma's grade, and silencing PLC beta 1 leads to increased cell migration, invasion, and proliferation in glioblastoma cells.

CELLULAR AND MOLECULAR LIFE SCIENCES (2022)

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Review Biochemistry & Molecular Biology

Genetics of glutamate and its receptors in autism spectrum disorder

Sabah Nisar et al.

Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social interaction skills, impaired communication, and repetitive and restricted behaviors. Research has shown that altered glutamate metabolism may be involved in the development of ASD. Imbalance in excitatory and inhibitory neurotransmitters in the glutamatergic system has been observed in pharmacological, behavioral, and imaging studies, suggesting its role in ASD pathology.

MOLECULAR PSYCHIATRY (2022)

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Article Biology

GenNet framework: interpretable deep learning for predicting phenotypes from genetic data

Arno van Hilten et al.

Summary: GenNet is an open-source deep learning framework that utilizes biologically knowledge to construct interpretable and memory-efficient neural network architectures, enabling the prediction of phenotypes and discovery of novel genes. It provides researchers with new insights into the genetic architecture of complex traits and diseases.

COMMUNICATIONS BIOLOGY (2021)

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Article Genetics & Heredity

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

Eugene J. Gardner et al.

Summary: Structural variations (SVs) are genetic alterations larger than 50 bp that can lead to genetic diseases, and are often missed by conventional diagnostic methods. By using the InDelible tool, researchers were able to identify rare damaging variants in genes associated with developmental disorders, improving diagnostic yield and potentially expanding understanding of genetic diseases.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Clinical Neurology

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations

Uladzislau Rudakou et al.

Summary: This study conducted a comprehensive analysis of selected genes associated with Parkinson's disease, identifying significant rare and common genetic variants in genes like SYT11, FGF20, and GCH1. Additionally, potential novel associations were discovered in genes like PM20D1, BST1, and GPNMB. Fine mapping of GWAS loci revealed important insights into the genetics of Parkinson's disease.

BRAIN (2021)

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Article Hematology

PLCG1 is required for AML1-ETO leukemia stem cell self-renewal

Tina M. Schnoeder et al.

BLOOD (2021)

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Review Clinical Neurology

Brain Cancers in Genetic Syndromes

Edina Komlodi-Pasztor et al.

Summary: Although genetic conditions causing primary central nervous system tumors are rare, recent advances in molecular diagnostics have improved the ability to diagnose these conditions. Clinicians need to be aware of the clinical presentation of genetic conditions predisposing to brain tumors in order to identify appropriate patients for genetic testing, as therapeutic advances for specific genetic variants become increasingly available, impacting patient outcomes directly.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2021)

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Article Multidisciplinary Sciences

Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening

Sung-Hyun Kim et al.

Summary: Using GWAS and deep learning techniques, specific SNVs related to Alzheimer's disease and abnormal exon splicing of the PLC.1 gene were identified, highlighting their association with AD. This study suggests the potential clinical utility of critical SNVs in AD prediction through a combination of computational and deep learning-based analyses.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

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Article Biochemistry & Molecular Biology

Aβ Oligomers Dysregulate Calcium Homeostasis by Mechanosensitive Activation of AMPA and NMDA Receptors

Giulia Fani et al.

Summary: Alzheimer's disease, the most common form of dementia, is characterized by the toxicity mechanism of Aβ oligomers through perturbing the mechanical properties of lipid membranes sensed by NMDA and AMPA receptors.

ACS CHEMICAL NEUROSCIENCE (2021)

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Review Biochemistry & Molecular Biology

The Role of Phospholipase C in GABAergic Inhibition and Its Relevance to Epilepsy

Hye Yun Kim et al.

Summary: Epilepsy is characterized by abnormal hyperexcitation of neurons. Recent studies suggest that the imbalance of excitation and inhibition in the central nervous system is closely implicated in the etiology of epilepsy. GABA in the brain plays a pivotal role in maintaining the balance between excitation and inhibition.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Neurosciences

TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation

Lorenza Magno et al.

Summary: The central role of resident innate immune cells (microglia) in neurodegeneration has been highlighted through recent studies, particularly focusing on the gene products TREM2 and PLC gamma 2. These insights offer new opportunities for the development of novel therapies in neurodegenerative disorders.

MOLECULAR NEURODEGENERATION (2021)

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Review Genetics & Heredity

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Federica Perrone et al.

Summary: Over the past few decades, significant progress has been made in understanding the molecular etiology of neurodegenerative brain diseases, particularly with the use of next-generation sequencing technologies to accelerate gene discoveries. Large-scale genome-wide association studies have identified common genetic variants influencing disease risk and revealed new pathways underlying NBD pathogenesis. However, the importance and potential contributions of rare genetic variants in NBD research still hold many unknowns.

GENOME MEDICINE (2021)

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Article

Prediction of genetic alteration of phospholipase C isozymes in brain disorders: Studies with deep learning

Jae-Yeol Joo et al.

Advances in Biological Regulation (2021)

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Article Multidisciplinary Sciences

A deep-learning framework for multi-level peptide-protein interaction prediction

Yipin Lei et al.

Summary: The authors proposed a deep learning framework CAMP for predicting peptide-protein interactions and identifying important binding residues. Comprehensive evaluation showed that CAMP outperformed other methods in predicting peptide-protein interactions. CAMP serves as a significant tool in facilitating peptide drug discovery.

NATURE COMMUNICATIONS (2021)

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Article Medical Informatics

Development and validation of a weakly supervised deep learning framework to predict the status of molecular pathways and key mutations in colorectal cancer from routine histology images: a retrospective study

Mohsin Bilal et al.

Summary: This study developed a novel deep learning pipeline to predict the status of key molecular pathways and mutations in colorectal cancer from tissue slides, and the results showed better performance compared to previous methods.

LANCET DIGITAL HEALTH (2021)

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Review Computer Science, Artificial Intelligence

Machine learning applications for therapeutic tasks with genomics data

Kexin Huang et al.

Summary: Machine learning applications in genomics have the potential to revolutionize therapeutic discovery and development by addressing key challenges and spanning various stages of the therapeutics pipeline. This survey examines recent research at the intersection of machine learning, genomics, and therapeutic development.

PATTERNS (2021)

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Review Multidisciplinary Sciences

Genome-wide association studies

Emil Uffelmann et al.

Summary: Genome-wide association studies (GWAS) involve testing hundreds of thousands of genetic variants to identify those associated with specific traits or diseases, with the number of associated variants expected to increase as sample sizes grow. The results of GWAS have various applications, including understanding the underlying biology of phenotypes, estimating heritability, predicting clinical risks, guiding drug development programs, and inferring causal relationships between risk factors and health outcomes.

NATURE REVIEWS METHODS PRIMERS (2021)

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Review Oncology

Designing deep learning studies in cancer diagnostics

Andreas Kleppe et al.

Summary: The number of publications on deep learning for cancer diagnostics is increasing rapidly, but clinical translation progress is slow. It is advocated to estimate performance in external cohorts, define a primary analysis in a standardized protocol stored online, and establish recommended protocol items in the field to facilitate transition to the clinic.

NATURE REVIEWS CANCER (2021)

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Article Clinical Neurology

Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations

Uladzislau Rudakou et al.

Summary: A comprehensive analysis of 32 genes from 25 loci associated with Parkinson's disease revealed rare variants burden in SYT11, FGF20, and GCH1, as well as nominal associations in 21 additional genes. This study highlights the importance of fine mapping of GWAS loci and suggests potential candidate genes for further studies in Parkinson's disease.

BRAIN (2021)

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Review Clinical Neurology

The genetic architecture of Parkinson's disease

Cornelis Blauwendraat et al.

LANCET NEUROLOGY (2020)

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Article Biochemistry & Molecular Biology

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom et al.

CELL (2020)

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Article Genetics & Heredity

Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene

Camille Desprairies et al.

CLINICAL GENETICS (2020)

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Review Biochemistry & Molecular Biology

y The genetics of bipolar disorder

Francis James A. Gordovez et al.

MOLECULAR PSYCHIATRY (2020)

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Article Clinical Neurology

PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment

Luca Kleineidam et al.

ACTA NEUROPATHOLOGICA (2020)

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Review Biochemistry & Molecular Biology

Phosphoinositide-Dependent Signaling in Cancer: A Focus on Phospholipase C Isozymes

Eric Owusu Obeng et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Article Medicine, General & Internal

Autism spectrum disorder

Catherine Lord et al.

NATURE REVIEWS DISEASE PRIMERS (2020)

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Article Neurosciences

Alzheimer's-associated PLCγ2 is a signaling node required for both TREM2 function and the inflammatory response in human microglia

Benjamin J. Andreone et al.

NATURE NEUROSCIENCE (2020)

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Article Cell Biology

Identification of Conserved Proteomic Networks in Neurodegenerative Dementia

Vivek Swarup et al.

CELL REPORTS (2020)

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Review Biochemistry & Molecular Biology

Phospholipase C families: Common themes and versatility in physiology and pathology

Matilda Katan et al.

PROGRESS IN LIPID RESEARCH (2020)

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Article Biochemistry & Molecular Biology

Dipeptide Mimetics of Different NGF and BDNF Loops Activate PLC-γ1

T. A. Gudasheva et al.

DOKLADY BIOCHEMISTRY AND BIOPHYSICS (2020)

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Article Oncology

Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes

Matilde Y. Follo et al.

LEUKEMIA (2019)

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Article Genetics & Heredity

Identification of common genetic risk variants for autism spectrum disorder

Jakob Grove et al.

NATURE GENETICS (2019)

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Article Clinical Neurology

PLCB1 Biallelic Point Mutations Cause West Syndrome

Kenneth A. Myers

PEDIATRIC NEUROLOGY (2019)

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Article Clinical Neurology

Alzheimer's disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph

Lorenza Magno et al.

ALZHEIMERS RESEARCH & THERAPY (2019)

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Article Clinical Neurology

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

Sven J. van der Lee et al.

ACTA NEUROPATHOLOGICA (2019)

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Review Genetics & Heredity

Deep learning: new computational modelling techniques for genomics

Gokcen Eraslan et al.

NATURE REVIEWS GENETICS (2019)

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Review Medicine, General & Internal

Genetic Variation, Comparative Genomics, and the Diagnosis of Disease

Evan E. Eichler

NEW ENGLAND JOURNAL OF MEDICINE (2019)

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Article Clinical Neurology

The landscape of early infantile epileptic encephalopathy in a consanguineous population

Marwan Nashabat et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2019)

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Article Cell Biology

The phosphoinositide hydrolase phospholipase C delta1 inhibits epithelial-mesenchymal transition and is silenced in colorectal cancer

Qin Xiang et al.

JOURNAL OF CELLULAR PHYSIOLOGY (2019)

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Review Biochemistry & Molecular Biology

Nuclear phospholipase C isoenzyme imbalance leads to pathologies in brain, hematologic, neuromuscular, and fertility disorders[S]

Stefano Ratti et al.

JOURNAL OF LIPID RESEARCH (2019)

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Article Neurosciences

Role of GPCR signaling and calcium dysregulation in Alzheimer's disease

Sushma et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2019)

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Article Biology

Structural basis for the activation of PLC-γ isozymes by phosphorylation and cancerassociated mutations

Nicole Hajicek et al.

ELIFE (2019)

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Review Medicine, General & Internal

Machine learning algorithms for systematic review: reducing workload in a preclinical review of animal studies and reducing human screening error

Alexandra Bannach-Brown et al.

SYSTEMATIC REVIEWS (2019)

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Review Biochemistry & Molecular Biology

Dysregulation of Intracellular Calcium Signaling in Alzheimer's Disease

Elena Popugaeva et al.

ANTIOXIDANTS & REDOX SIGNALING (2018)

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Review Cell Biology

Calcium signaling and molecular mechanisms underlying neurodegenerative diseases

Ekaterina Pchitskaya et al.

CELL CALCIUM (2018)

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Review Clinical Neurology

The Phosphoinositide Signal Transduction Pathway in the Pathogenesis of Alzheimer's Disease

Vincenza Rita Lo Vasco

CURRENT ALZHEIMER RESEARCH (2018)

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Article Biochemistry & Molecular Biology

G protein βγ subunits directly interact with and activate phospholipase Cε

Jerry C. Madukwe et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2018)

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Article Genetics & Heredity

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

Antonio F. Pardinas et al.

NATURE GENETICS (2018)

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Article Multidisciplinary Sciences

Systematic identification of latent disease-gene associations from PubMed articles

Yuji Zhang et al.

PLOS ONE (2018)

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Article Cell Biology

Diverse Brain Myeloid Expression Profiles Reveal Distinct Microglial Activation States and Aspects of Alzheimer's Disease Not Evident in Mouse Models

Brad A. Friedman et al.

CELL REPORTS (2018)

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Article Medicine, General & Internal

Epilepsy

Orrin Devinsky et al.

NATURE REVIEWS DISEASE PRIMERS (2018)

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Article Medicine, General & Internal

Bipolar disorders

Eduard Vieta et al.

NATURE REVIEWS DISEASE PRIMERS (2018)

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Review Biochemistry & Molecular Biology

Calcium signaling in Alzheimer's disease & therapies

Benjamin Chun-Kit Tong et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2018)

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Article Biochemistry & Molecular Biology

Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing

Jinyu Wu et al.

JOURNAL OF GENETICS AND GENOMICS (2018)

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Article Neurosciences

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans

Olivia J. Conway et al.

MOLECULAR NEURODEGENERATION (2018)

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Article Genetics & Heredity

Can Deep Learning Improve Genomic Prediction of Complex Human Traits?

Pau Bellot et al.

GENETICS (2018)

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Review Cell Biology

BDNF: A Key Factor with Multipotent Impact on Brain Signaling and Synaptic Plasticity

Przemyslaw Kowianski et al.

CELLULAR AND MOLECULAR NEUROBIOLOGY (2018)

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Review Biochemistry & Molecular Biology

Regulation and physiological functions of mammalian phospholipase C

Yoshikazu Nakamura et al.

JOURNAL OF BIOCHEMISTRY (2017)

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Article Medicine, Research & Experimental

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Noa Lipstein et al.

JOURNAL OF CLINICAL INVESTIGATION (2017)

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Article Biochemistry & Molecular Biology

Forebrain-specific ablation of phospholipase Cγ1 causes manic-like behavior

Y. R. Yang et al.

MOLECULAR PSYCHIATRY (2017)

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Article Genetics & Heredity

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Rebecca Sims et al.

NATURE GENETICS (2017)

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Review Neurosciences

An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options

Anne Masi et al.

NEUROSCIENCE BULLETIN (2017)

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Article Genetics & Heredity

Genetic variation in human drug-related genes

Charlotta Pauline Irmgard Scharfe et al.

GENOME MEDICINE (2017)

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Article Medicine, Research & Experimental

Genome-Wide Profiling of miRNA and mRNA Expression in Alzheimer's Disease

Wan-Sheng Chang et al.

MEDICAL SCIENCE MONITOR (2017)

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Review Genetics & Heredity

The genetic landscape of Alzheimer disease: clinical implications and perspectives

Caroline Van Cauwenberghe et al.

GENETICS IN MEDICINE (2016)

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Article Neurosciences

Phospholipase C Beta 1: a Candidate Signature Gene for Proneural Subtype High-Grade Glioma

Guangrong Lu et al.

MOLECULAR NEUROBIOLOGY (2016)

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Article Biochemistry & Molecular Biology

Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations

M. Kataoka et al.

MOLECULAR PSYCHIATRY (2016)

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Article Neurosciences

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Tarjinder Singh et al.

NATURE NEUROSCIENCE (2016)

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Article Cell & Tissue Engineering

The Involvment of Hematopoietic-Specific PLC -β2 in Homing and Engraftment of Hematopoietic Stem/Progenitor Cells

Mateusz Adamiak et al.

STEM CELL REVIEWS AND REPORTS (2016)

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Article Cell & Tissue Engineering

The Involvment of Hematopoietic-Specific PLC -β2 in Homing and Engraftment of Hematopoietic Stem/Progenitor Cells

Mateusz Adamiak et al.

STEM CELL REVIEWS AND REPORTS (2016)

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Review Biochemistry & Molecular Biology

Phosphoinositide-specific phospholipase C in health and disease

Lucio Cocco et al.

JOURNAL OF LIPID RESEARCH (2015)

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Article Multidisciplinary Sciences

A global reference for human genetic variation

David M. Altshuler et al.

NATURE (2015)

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Review Genetics & Heredity

Human genotype-phenotype databases: aims, challenges and opportunities

Anthony J. Brookes et al.

NATURE REVIEWS GENETICS (2015)

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Article Genetics & Heredity

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

Dennis Lal et al.

PLOS GENETICS (2015)

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Article Clinical Neurology

Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum

Adeline Ngoh et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2014)

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Article Clinical Neurology

Impairment of kindling development in phospholipase Cγ1 heterozygous mice

Xiao Ping He et al.

EPILEPSIA (2014)

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Article Clinical Neurology

Glutamatergic candidate genes in autism spectrum disorder: an overview

Andreas G. Chiocchetti et al.

JOURNAL OF NEURAL TRANSMISSION (2014)

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Article Clinical Neurology

Gene expression profile in fibroblasts of Huntington's disease patients and controls

Eleonora Marchina et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)

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Article Multidisciplinary Sciences

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov et al.

NATURE (2014)

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Article Multidisciplinary Sciences

Biological insights from 108 schizophrenia-associated genetic loci

Stephan Ripke et al.

NATURE (2014)

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Review Genetics & Heredity

Cryptic genetic variation: evolution's hidden substrate

Annalise B. Paaby et al.

NATURE REVIEWS GENETICS (2014)

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Article Multidisciplinary Sciences

Common and Rare Variant Analysis in Early-Onset Bipolar Disorder Vulnerability

Stephane Jamain et al.

PLOS ONE (2014)

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Article Psychiatry

Identification of Pathways for Bipolar Disorder A Meta-analysis

John I. Nurnberger et al.

JAMA PSYCHIATRY (2014)

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Review Physiology

Mammalian Phospholipase C

Ganesh Kadamur et al.

ANNUAL REVIEW OF PHYSIOLOGY, VOL 75 (2013)

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Article Clinical Neurology

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

An I. Jonckheere et al.

BRAIN (2013)

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Review Biochemistry & Molecular Biology

Nuclear inositide specific phospholipase C signalling - interactions and activity

Irene Faenza et al.

FEBS JOURNAL (2013)

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Review Genetics & Heredity

The SCN1A gene variants and epileptic encephalopathies

Rashmi Parihar et al.

JOURNAL OF HUMAN GENETICS (2013)

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Review Neurosciences

Neurotrophin regulation of neural circuit development and function

Hyungju Park et al.

NATURE REVIEWS NEUROSCIENCE (2013)

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Article Biochemistry & Molecular Biology

Dysregulation of neural calcium signaling in Alzheimer disease, bipolar disorder and schizophrenia

Michael J. Berridge

PRION (2013)

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Review Genetics & Heredity

Properties and rates of germline mutations in humans

Catarina D. Campbell et al.

TRENDS IN GENETICS (2013)

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Review Psychiatry

BDNF-TrkB signaling and neuroprotection in schizophrenia

Chirayu D. Pandya et al.

ASIAN JOURNAL OF PSYCHIATRY (2013)

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Review Pharmacology & Pharmacy

Structural Insights into Phospholipase C-β Function

Angeline M. Lyon et al.

MOLECULAR PHARMACOLOGY (2013)

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Article Biochemistry & Molecular Biology

Cloning, tissue distribution and sub-cellular localisation of phospholipase C X-domain containing protein (PLCXD) isoforms

Steven A. Gellatly et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)

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Review Biochemistry & Molecular Biology

Starting a new life: Sperm PLC-zeta mobilizes the Ca2+signal that induces egg activation and embryo development

Michail Nomikos et al.

BIOESSAYS (2012)

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Review Cell Biology

Role of phospholipase Cε in physiological phosphoinositide signaling networks

Alan V. Smrcka et al.

CELLULAR SIGNALLING (2012)

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Article Cell Biology

Genetic architecture in autism spectrum disorder

Bernie Devlin et al.

CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)

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Article Neurosciences

Phospholipase C-η Activity May Contribute to Alzheimer's Disease-Associated Calciumopathy

Petra Popovics et al.

JOURNAL OF ALZHEIMERS DISEASE (2012)

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Article Cell Biology

Deletion of PLCB1 gene in schizophrenia-affected patients

Vincenza Rita Lo Vasco et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2012)

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Review Clinical Neurology

Roles of brain-derived neurotrophic factor/tropomyosin-related kinase B (BDNF/TrkB) signalling in Alzheimer's disease

Fang Zhang et al.

JOURNAL OF CLINICAL NEUROSCIENCE (2012)

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Article Multidisciplinary Sciences

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale et al.

NATURE (2012)

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Review Neurosciences

Phosphoinositide pathway and the signal transduction network in neural development

Vincenza Rita Lo Vasco

NEUROSCIENCE BULLETIN (2012)

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Article Cell Biology

Phospholipase C-η1 is activated by intracellular Ca2+ mobilization and enhances GPCRs/PLC/Ca2+ signaling

Jung Kuk Kim et al.

CELLULAR SIGNALLING (2011)

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Article Cell Biology

Phospholipase C-η2 is activated by elevated intracellular Ca2+ levels

Petra Popovics et al.

CELLULAR SIGNALLING (2011)

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Article Cell Biology

A PLCβ/PI3Kγ-GSK3 Signaling Pathway Regulates Cofilin Phosphatase Slingshot2 and Neutrophil Polarization and Chemotaxis

Wenwen Tang et al.

DEVELOPMENTAL CELL (2011)

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Article Biochemistry & Molecular Biology

Calcium Signalling and Alzheimer's Disease

Michael J. Berridge

NEUROCHEMICAL RESEARCH (2011)

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Review Biochemistry & Molecular Biology

PLC regulation: emerging pictures for molecular mechanisms

Tom D. Bunney et al.

TRENDS IN BIOCHEMICAL SCIENCES (2011)

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Article Clinical Neurology

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

Manju A. Kurian et al.

BRAIN (2010)

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Article Oncology

PLCD1 is a functional tumor suppressor inducing G2/M arrest and frequently methylated in breast cancer

Tingxiu Xiang et al.

CANCER BIOLOGY & THERAPY (2010)

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Review Biochemistry & Molecular Biology

Phospholipase C is a key enzyme regulating intracellular calcium and modulating the phosphoinositide balance

Kiyoko Fukami et al.

PROGRESS IN LIPID RESEARCH (2010)

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Article Biochemistry & Molecular Biology

Gain-of-Function Enhancement of IP3 Receptor Modal Gating by Familial Alzheimer's Disease-Linked Presenilin Mutants in Human Cells and Mouse Neurons

King-Ho Cheung et al.

SCIENCE SIGNALING (2010)

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Article Oncology

Tumor Suppression by Phospholipase C-β3 via SHP-1-Mediated Dephosphorylation of Stat5

Wenbin Xiao et al.

CANCER CELL (2009)

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Article Obstetrics & Gynecology

Reduced amounts and abnormal forms of phospholipase C zeta (PLC zeta) in spermatozoa from infertile men

E. Heytens et al.

HUMAN REPRODUCTION (2009)

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Review Cell Biology

Calcium in the initiation, progression and as an effector of Alzheimer's disease pathology

Kim N. Green

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2009)

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Article Biochemistry & Molecular Biology

Supraspinal Gβγ-dependent stimulation of PLCβ3 originating from G inhibitory protein-μ opioid receptor-coupling is necessary for morphine induced acute hyperalgesia

Enrica Bianchi et al.

JOURNAL OF NEUROCHEMISTRY (2009)

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Review Biochemistry & Molecular Biology

The role of genetic variation in the causation of mental illness: an evolution-informed framework

R. Uher

MOLECULAR PSYCHIATRY (2009)

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Review Genetics & Heredity

Human genetic variation and its contribution to complex traits

Kelly A. Frazer et al.

NATURE REVIEWS GENETICS (2009)

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Review Neurosciences

TrkB signalling pathways in LTP and learning

Liliana Minichiello

NATURE REVIEWS NEUROSCIENCE (2009)

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Article Neurosciences

BRAIN-DERIVED NEUROTROPHIC FACTOR MODULATES THE SEVERITY OF COGNITIVE ALTERATIONS INDUCED BY MUTANT huntingtin: INVOLVEMENT OF PHOSPHOLIPASECγ ACTIVITY AND GLUTAMATE RECEPTOR EXPRESSION

A. Giralt et al.

NEUROSCIENCE (2009)

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Article Biochemistry & Molecular Biology

Phospholipase C delta 1 is a novel 3p22.3 tumor suppressor involved in cytoskeleton organization, with its epigenetic silencing correlated with high-stage gastric cancer

X-T Hu et al.

ONCOGENE (2009)

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Article Multidisciplinary Sciences

Deletion of phospholipase C β4 in thalamocortical relay nucleus leads to absence seizures

Eunji Cheong et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)

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Article Biochemistry & Molecular Biology

Activation of human phospholipase C-η2 by Gβγ

Yixing Zhou et al.

BIOCHEMISTRY (2008)

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Review Biochemistry & Molecular Biology

Multiple roles of phosphoinositide-specific phospholipase C isozymes

Pann-Ghill Suh et al.

BMB REPORTS (2008)

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Article Neurosciences

Predominant expression of phospholipase Cβ1 in telencephalic principal neurons and cerebellar interneurons, and its close association with related signaling molecules in somatodendritic neuronal elements

Masahiro Fukaya et al.

EUROPEAN JOURNAL OF NEUROSCIENCE (2008)

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Article Biochemistry & Molecular Biology

Phospholipase C-δ1 expression is linked to proliferation, DNA synthesis, and cyclin E levels

Jonathan D. Stallings et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

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Article Biochemistry & Molecular Biology

Phosphorylation regulates tau interactions with Src homology 3 domains of phosphatidylinositol 3-kinase, phospholipase Cγ1, Grb2, and Src family kinases

C. Hugh Reynolds et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2008)

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Article Medicine, Research & Experimental

Phospholipase C beta 3 deficiency leads to macrophage hypersensitivity to apoptotic induction and reduction of atherosclerosis in mice

Zhenglong Wang et al.

JOURNAL OF CLINICAL INVESTIGATION (2008)

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Article Medicine, Research & Experimental

Human sperm devoid of PLC, zeta 1 fail to induce Ca2+ release and are unable to initiate the first step of embryo development

Sook-Young Yoon et al.

JOURNAL OF CLINICAL INVESTIGATION (2008)

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Article Neurosciences

A Novel Gβγ-Subunit Inhibitor Selectively Modulates μ-Opioid-Dependent Antinociception and Attenuates Acute Morphine-Induced Antinociceptive Tolerance and Dependence

Jennifer L. Mathews et al.

JOURNAL OF NEUROSCIENCE (2008)

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Article Oncology

Phospholipase C-β2 promotes mitosis and migration of human breast cancer-derived cells

Valeria Bertagnolo et al.

CARCINOGENESIS (2007)

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Article Endocrinology & Metabolism

Phospholipase C-eta enzymes as putative protein kinase C and Ca2+ signalling components in neuronal and neuroendocrine tissues

Alan J. Stewart et al.

NEUROENDOCRINOLOGY (2007)

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Article Cell Biology

Alternative splice variants of phospholipase C-beta 2 are expressed in platelets: Effect on G alpha q-dependent activation and localization

Liansheng Sun et al.

PLATELETS (2007)

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Review Cell Biology

Phospholipase C epsilon: linking second messengers and small GTPases

Tom D. Bunney et al.

TRENDS IN CELL BIOLOGY (2006)

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Article Neurosciences

Phospholipase Cβ3 mediates the scratching response activated by the histamine H1 receptor on C-fiber nociceptive neurons

Sang-Kyou Han et al.

NEURON (2006)

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Article Neurosciences

Enhanced ryanodine receptor recruitment contributes to Ca2+ disruptions in young, adult, and aged Alzheimer's disease mice

Grace E. Stutzmann et al.

JOURNAL OF NEUROSCIENCE (2006)

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Article Biochemistry & Molecular Biology

Structural and mechanistic insights into ras association domains of phospholipase C epsilon

TD Bunney et al.

MOLECULAR CELL (2006)

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Article Biochemistry & Molecular Biology

The latest phospholipase C, PLC eta, is implicated in neuronal function

S Cockcroft

TRENDS IN BIOCHEMICAL SCIENCES (2006)

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Article Neurosciences

Brain-derived neurotrophic factor-induced potentiation of glutamate and GABA release: Different dependency on signaling pathways and neuronal activity

T Matsumoto et al.

MOLECULAR AND CELLULAR NEUROSCIENCE (2006)

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Article Biochemistry & Molecular Biology

Molecular cloning and characterization of PLC-η2

YX Zhou et al.

BIOCHEMICAL JOURNAL (2005)

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Article Biochemistry & Molecular Biology

Role of phospholipase C-ζ domains in Ca2+-dependent phosphatidylinositol 4,5-bisphosphate hydrolysis and cytoplasmic Ca2+ oscillations

M Nomikos et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

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Article Biochemistry & Molecular Biology

A novel phospholipase C, PLCη2, is a neuron-specific isozyme

M Nakahara et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

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Article Biochemistry & Molecular Biology

Molecular cloning and characterization of a novel phospholipase C, PLC-η

JI Hwang et al.

BIOCHEMICAL JOURNAL (2005)

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Article Biochemistry & Molecular Biology

G-protein-activated phospholipase C-β, new partners for cell polarity proteins Par3 and Par6

Y Cai et al.

ONCOGENE (2005)

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Article Neurosciences

Activity-dependent regulation of synapse and dendritic spine morphology in developing barrel cortex requires phospholipase C-β1 signalling

TL Spires et al.

CEREBRAL CORTEX (2005)

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Review Genetics & Heredity

Uncovering cryptic genetic variation

G Gibson et al.

NATURE REVIEWS GENETICS (2004)

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Article Biochemistry & Molecular Biology

Phospholipase C δ-type consists of three isozymes:: bovine PLCδ2 is a homologue of human/mouse PLCδ4

Y Irino et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)

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Article Biochemistry & Molecular Biology

Phospholipase C delta-4 overexpression upregulates ErbB1/2 expression, Erk signaling pathway, and proliferation in MCF-7 cells

David W. Leung et al.

MOLECULAR CANCER (2004)

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Article Cell Biology

Phospholipase Cδ4 is required for Ca2+ mobilization essential for acrosome reaction in sperm

K Fukami et al.

JOURNAL OF CELL BIOLOGY (2003)

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Article Biochemistry & Molecular Biology

Role of the CDC25 homology domain of phospholipase Cε in amplification of Rap1-dependent signaling

TG Jin et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)

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Article Multidisciplinary Sciences

Requirement of phospholipase Cδ4 for the zona pellucida-induced acrosome reaction

K Fukami et al.

SCIENCE (2001)

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Article Biochemistry & Molecular Biology

Phospholipase Cε:: a novel Ras effector

GG Kelley et al.

EMBO JOURNAL (2001)

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Article Biochemistry & Molecular Biology

Regulation of a novel human phospholipase C, PLCε, through membrane targeting by Ras

C Song et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)

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Review Neurosciences

Neurotrophins: Roles in neuronal development and function

EJ Huang et al.

ANNUAL REVIEW OF NEUROSCIENCE (2001)

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Review Physiology

Structure, function, and control of phosphoinositide-specific phospholipase C

MJ Rebecchi et al.

PHYSIOLOGICAL REVIEWS (2000)

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Article Multidisciplinary Sciences

Roles of PLC-β2 and -β3 and PI3Kγ in chemoattractant-mediated signal transduction

Z Li et al.

SCIENCE (2000)

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Cryptic mutations of PLC family members in brain disorders: recent discoveries and a deep-learning-based approach

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