4.1 Article

Integrated analysis of transcriptomic and proteomic alterations in mouse models of ALS/FTD identify early metabolic adaptions with similarities to mitochondrial dysfunction disorders

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Cell Biology

ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in Spinal Muscular Atrophy motoneurons

Alba Sansa et al.

Summary: Spinal Muscular Atrophy (SMA) is caused by misexpression of SMN protein and leads to progressive muscular atrophy and weakness. The link between SMN deficiency and molecular mechanisms altered in SMA cells remains unclear. Inhibition of PI3K/Akt and ERK MAPK pathways reduces SMN levels and contributes to autophagy deregulation in SMN-reduced MNs.

CELL DEATH DISCOVERY (2023)

Article Biochemistry & Molecular Biology

BCL(X)L and BCL2 increase the metabolic fitness of breast cancer cells: a single-cell imaging study

Federico Lucantoni et al.

Summary: BCL2 and BCL(X)L enhance the metabolic robustness of MCF7 breast cancer cells by increasing mitochondrial NAD(P)H and ATP levels, leading to improved resistance to nutrient deprivation and enhanced survival under metabolic stress.

CELL DEATH AND DIFFERENTIATION (2021)

Article Biochemistry & Molecular Biology

Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements

Maik Hintze et al.

Summary: The study revealed that pelage paucity in Hq mutant mice is mechanistically linked to severe deficiency of AIF, and is associated with the expression of retroviral elements that might potentially influence the transcriptional regulation of structural hair proteins.

MAMMALIAN GENOME (2021)

Article Biochemistry & Molecular Biology

An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function

Xiaofen Jin et al.

Summary: YARS2 deficiency can lead to impaired mitochondrial protein synthesis, affecting the stability and activity of the oxidative phosphorylation system, ultimately causing vision impairments. Utilizing CRISPR/Cas9 technology, YARS2 knockout was successfully generated in HeLa cells and zebrafish, revealing the underlying pathophysiology and highlighting the critical role of YARS2 in mitochondrial function and vision disorders.

JOURNAL OF BIOLOGICAL CHEMISTRY (2021)

Article Multidisciplinary Sciences

Systems level profiling of chemotherapy-induced stress resolution in cancer cells reveals druggable trade-offs

Paula Saavedra-Garcia et al.

Summary: The study reveals the complex mechanisms of proteotoxic stress resolution in cancer cells recovering from chemotherapy-induced stress, involving extensive changes across the transcriptome, proteome, and metabolome, as well as dynamic alterations in glucose and lipid metabolism and suppression of mitochondrial function. Additionally, recovering cells are more vulnerable to specific insults, with a key vulnerability associated with cellular response to amino acid scarcity.

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

Article Multidisciplinary Sciences

TDP-43 and PINK1 mediate CHCHD10S59L mutation-induced defects in Drosophila and in vitro

Minwoo Baek et al.

Summary: Mutations in CHCHD10 can lead to ALS and FTD. The CHCHD10S59L mutation causes cell toxicity and mitochondrial defects through the TDP-43 and PINK1 pathways.

NATURE COMMUNICATIONS (2021)

Article Medicine, General & Internal

Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency

Lidia Carreno-Gago et al.

Summary: Pathogenic variants in the YARS2 gene were associated with MLASA, characterized by myopathy, lactic acidosis, and sideroblastic anemia. Two siblings with novel compound heterozygous pathogenic variants in YARS2 were studied, demonstrating reduced mitochondrial protein translation and dysfunctional organelle function, leading to late onset MLASA with pancreatic insufficiency, consistent with clinical features of Pearson's syndrome. Identification of these pathogenic variants in patients presenting Pearson's syndrome characteristics and MLASA related phenotypes should involve molecular study of the YARS2 gene.

JOURNAL OF CLINICAL MEDICINE (2021)

Article Multidisciplinary Sciences

Deep learning-based cell composition analysis from tissue expression profiles

Kevin Menden et al.

SCIENCE ADVANCES (2020)

Article Biochemistry & Molecular Biology

ChEA3: transcription factor enrichment analysis by orthogonal omics integration

Alexandra B. Keenan et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Cell Biology

Vascular regression precedes motor neuron loss in the FUS (1-359) ALS mouse model

Martin Crivello et al.

DISEASE MODELS & MECHANISMS (2019)

Review Neurosciences

Proteomics Approaches for Biomarker and Drug Target Discovery in ALS and FTD

Thomas J. Hedl et al.

FRONTIERS IN NEUROSCIENCE (2019)

Article Multidisciplinary Sciences

Differentiation but not ALS mutations in FUS rewires motor neuron metabolism

Tijs Vandoorne et al.

NATURE COMMUNICATIONS (2019)

Article Biochemistry & Molecular Biology

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework

Aziz Khan et al.

NUCLEIC ACIDS RESEARCH (2018)

Article Clinical Neurology

Riluzole does not improve lifespan or motor function in three ALS mouse models

Marion C. Hogg et al.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2018)

Article Cell Biology

Emerging Links between Lipid Droplets and Motor Neuron Diseases

Giuseppa Pennetta et al.

DEVELOPMENTAL CELL (2018)

Article Neurosciences

TDP-43 interacts with mitochondrial proteins critical for mitophagy and mitochondrial dynamics

Stephani A. Davis et al.

NEUROSCIENCE LETTERS (2018)

Article Endocrinology & Metabolism

A disease-associated Aifm1 variant induces severe myopathy in knockin mice

Lena Wischhof et al.

MOLECULAR METABOLISM (2018)

Article Genetics & Heredity

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Charlotte L. Alston et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2018)

Article Multidisciplinary Sciences

FUS interacts with ATP synthase beta subunit and induces mitochondrial unfolded protein response in cellular and animal models

Jianwen Deng et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Review Biochemistry & Molecular Biology

Guidelines on experimental methods to assess mitochondrial dysfunction in cellular models of neurodegenerative diseases

Niamh M. C. Connolly et al.

CELL DEATH AND DIFFERENTIATION (2018)

Article Biochemistry & Molecular Biology

A Protective Role for Triacylglycerols during Apoptosis

Nasi Li et al.

BIOCHEMISTRY (2018)

Article Biochemical Research Methods

Modified filter-aided sample preparation (FASP) method increases peptide and protein identifications for shotgun proteomics

Mao-wei Ni et al.

RAPID COMMUNICATIONS IN MASS SPECTROMETRY (2017)

Review Biochemistry & Molecular Biology

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

Rebecca Meyer-Schuman et al.

HUMAN MOLECULAR GENETICS (2017)

Article Neurosciences

Mutant TDP-43 does not impair mitochondrial bioenergetics in vitro and in vivo

Hibiki Kawamata et al.

MOLECULAR NEURODEGENERATION (2017)

Article Biochemistry & Molecular Biology

KEGG as a reference resource for gene and protein annotation

Minoru Kanehisa et al.

NUCLEIC ACIDS RESEARCH (2016)

Article Clinical Neurology

Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons

Anne Gruenewald et al.

ANNALS OF NEUROLOGY (2016)

Article Biochemistry & Molecular Biology

The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity

Wenzhang Wang et al.

NATURE MEDICINE (2016)

Article Biochemical Research Methods

The Perseus computational platform for comprehensive analysis of (prote)omics data

Stefka Tyanova et al.

NATURE METHODS (2016)

Article Biochemistry & Molecular Biology

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

Maxim V. Kuleshov et al.

NUCLEIC ACIDS RESEARCH (2016)

Review Neurosciences

TDP-43/FUS in motor neuron disease: Complexity and challenges

Erika N. Guerrero et al.

PROGRESS IN NEUROBIOLOGY (2016)

Article Biochemical Research Methods

Multiple testing corrections in quantitative proteomics: A useful but blunt tool

Dana Pascovici et al.

PROTEOMICS (2016)

Article Neurosciences

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

Elisa Onesto et al.

ACTA NEUROPATHOLOGICA COMMUNICATIONS (2016)

Article Cell Biology

ALS mutations in TLS/FUS disrupt target gene expression

Tristan H. Coady et al.

GENES & DEVELOPMENT (2015)

Article Biochemistry & Molecular Biology

limma powers differential expression analyses for RNA-sequencing and microarray studies

Matthew E. Ritchie et al.

NUCLEIC ACIDS RESEARCH (2015)

Article Genetics & Heredity

Network Analyses Reveal Novel Aspects of ALS Pathogenesis

Mario Sanhueza et al.

PLOS GENETICS (2015)

Article Biochemical Research Methods

HTSeq-a Python framework to work with high-throughput sequencing data

Simon Anders et al.

BIOINFORMATICS (2015)

Article Biochemical Research Methods

Accurate Label-Free Protein Quantitation with High- and Low-Resolution Mass Spectrometers

Jocelyn F. Krey et al.

JOURNAL OF PROTEOME RESEARCH (2014)

Article Biochemical Research Methods

HGF Induces Epithelial-to-Mesenchymal Transition by Modulating the Mammalian Hippo/MST2 and ISG15 Pathways

Jennifer Farrell et al.

JOURNAL OF PROTEOME RESEARCH (2014)

Article Genetics & Heredity

A Distinct Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA) Phenotype Associates with YARS2 Mutations

Rojeen Shahni et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Biochemical Research Methods

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin et al.

BIOINFORMATICS (2013)

Article Biochemical Research Methods

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

Edward Y. Chen et al.

BMC BIOINFORMATICS (2013)

Review Biochemistry & Molecular Biology

OXPHOS mutations and neurodegeneration

Werner J. H. Koopman et al.

EMBO JOURNAL (2013)

Article Biochemistry & Molecular Biology

Defective mitochondrial disulfide relay system, altered mitochondrial morphology and function in Huntingtons disease

Eleonora Napoli et al.

HUMAN MOLECULAR GENETICS (2013)

Article Biochemistry & Molecular Biology

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons

Wenzhang Wang et al.

HUMAN MOLECULAR GENETICS (2013)

Article Cell Biology

Acyl-CoA synthetase 3 promotes lipid droplet biogenesis in ER microdomains

Adam Kassan et al.

JOURNAL OF CELL BIOLOGY (2013)

Review Clinical Neurology

The clinical maze of mitochondrial neurology

Salvatore DiMauro et al.

NATURE REVIEWS NEUROLOGY (2013)

Article Biochemistry & Molecular Biology

Human mitochondrial RNA decay mediated by PNPase-hSuv3 complex takes place in distinct foci

Lukasz S. Borowski et al.

NUCLEIC ACIDS RESEARCH (2013)

Review Multidisciplinary Sciences

Mitochondrial disorders as windows into an ancient organelle

Scott B. Vafai et al.

NATURE (2012)

Review Medicine, General & Internal

Monogenic Mitochondrial Disorders

Werner J. H. Koopman et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Biotechnology & Applied Microbiology

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

Guangchuang Yu et al.

OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2012)

Article Clinical Neurology

Guidelines for preclinical animal research in ALS/MND: A consensus meeting

Albert C. Ludolph et al.

AMYOTROPHIC LATERAL SCLEROSIS (2010)

Article Biochemical Research Methods

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

Mark D. Robinson et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

A human B-cell interactome identifies MYB and FOXM1 as master regulators of proliferation in germinal centers

Celine Lefebvre et al.

MOLECULAR SYSTEMS BIOLOGY (2010)

Article Multidisciplinary Sciences

The transcriptional network for mesenchymal transformation of brain tumours

Maria Stella Carro et al.

NATURE (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

Combination of FASP and StageTip-Based Fractionation Allows In-Depth Analysis of the Hippocampal Membrane Proteome

Jacek R. Wisniewski et al.

JOURNAL OF PROTEOME RESEARCH (2009)

Article Multidisciplinary Sciences

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

Iga Wegorzewska et al.

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

Article Clinical Neurology

Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive Multifocal neuropathology

Vincent El Ghouzzi et al.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2007)

Article Biochemistry & Molecular Biology

Involvement of ACSL in local synthesis of neutral lipids in cytoplasmic lipid droplets in human hepatocyte HuH7

Yasuyuki Fujimoto et al.

JOURNAL OF LIPID RESEARCH (2007)

Article Genetics & Heredity

Tissue-specific differences in human transfer RNA expression

Kimberly A. Dittmar et al.

PLOS GENETICS (2006)

Article Biochemical Research Methods

Improved scoring of functional groups from gene expression data by decorrelating GO graph structure

Adrian Alexa et al.

BIOINFORMATICS (2006)

Article Medicine, Research & Experimental

The metabolic hypothesis in amyotrophic lateral sclerosis: insights from mutant Cu/Zn-superoxide dismutase mice

JLG de Aguilar et al.

BIOMEDICINE & PHARMACOTHERAPY (2005)

Article Biochemistry & Molecular Biology

AIF deficiency compromises oxidative phosphorylation

N Vahsen et al.

EMBO JOURNAL (2004)

Review Clinical Neurology

Mitochondrial disorders

M Zeviani et al.

Article Biochemistry & Molecular Biology

Oxidative damage to mitochondrial complex I due to peroxynitrite - Identification of reactive tyrosines by mass spectrometry

J Murray et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Multidisciplinary Sciences

The harlequin mouse mutation down-regulates apoptosis-inducing factor

JA Klein et al.

NATURE (2002)