Exploring the Genetic Predisposition to Epigenetic Changes in Alzheimer's Disease

Article Clinical Neurology

Cytoplasmic HDAC4 recovers synaptic function in the 3xTg mouse model of Alzheimer's disease

Claudia Colussi et al.

Summary: This study reveals that the abnormal localization of HDAC4 may contribute to synaptic dysfunction in AD, leading to impaired synaptic transmission and cognitive deficits.

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2023)

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Article Biochemistry & Molecular Biology

EpiFactors 2022: expansion and enhancement of a curated database of human epigenetic factors and complexes

Daria Marakulina et al.

Summary: This article presents an update of EpiFactors, a curated database providing information on epigenetic regulators. The updated version includes data on 902 proteins, 124 lncRNAs, and 73 protein complexes involved in epigenetic regulation. This resource fills a gap in the compilation and organization of information on lncRNAs in epigenetics.

NUCLEIC ACIDS RESEARCH (2023)

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Review Neurosciences

α-Synuclein and Mechanisms of Epigenetic Regulation

Andrei Surguchov

Summary: Synucleinopathies are neurodegenerative diseases characterized by excessive accumulation and abnormal deposition of alpha-synuclein, leading to motor, cognitive, and behavioral decline. Research is ongoing to find disease-modifying treatments and early diagnostic markers. Alpha-synuclein is involved in epigenetic regulation through binding to DNA and histones, controlling gene transcription. This article discusses the role of alpha-synuclein in epigenetic regulation in health and disease.

BRAIN SCIENCES (2023)

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Review Biotechnology & Applied Microbiology

Apolipoprotein E ε4 Polymorphism as a Risk Factor for Ischemic Stroke: A Systematic Review and Meta-Analysis

Su-Ya Qiao et al.

Summary: This meta-analysis confirmed the association between APOE gene epsilon 4 mutation and ischemic stroke, showing a dose-response correlation in the risk of IS. Additionally, similar conclusions were drawn in the small artery disease subtype.

DISEASE MARKERS (2022)

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Article Biochemistry & Molecular Biology

Database resources of the national center for biotechnology information

Eric W. Sayers et al.

Summary: The National Center for Biotechnology Information (NCBI) produces a variety of online information resources for biology, including databases for nucleic acid sequences and life science journal citations. It provides search and retrieval operations for most of these data from 35 distinct databases, with E-utilities serving as the programming interface. Several resources received significant updates in the past year.

NUCLEIC ACIDS RESEARCH (2022)

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Review Neurosciences

Understanding the Role of Histone Deacetylase and their Inhibitors in Neurodegenerative Disorders: Current Targets and Future Perspective

Vishal Kumar et al.

Summary: Neurodegenerative diseases result in the degeneration of neurons in specific brain areas, leading to motor incordination, cognitive impairment, and memory impairments. Mechanisms such as oxidative stress, mitochondrial dysfunction, excitotoxicity, neuroinflammation, and histone deacetylase enzymes (HDAC) play crucial roles in neurodegeneration. HDAC1 and HDAC2 are involved in neurodegeneration, while other HDACs and class III HDACs have neuroprotective effects. Understanding the mechanisms and therapeutic targets of HDACs is important for managing neurodegenerative disorders.

CURRENT NEUROPHARMACOLOGY (2022)

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Article Toxicology

Evaluation of genetic variants in nucleosome remodeling and deacetylase (NuRD) complex subunits encoding genes and gastric cancer susceptibility

Yujuan Zhang et al.

Summary: The study revealed that genetic variants in NuRD complex subunits encoding genes are associated with gastric cancer risk, with an increase in the number of favorable alleles of specific SNPs linked to lower risk. Specific SNPs in GATAD2A were significantly correlated with mRNA expression levels, and patients with higher expression levels of GATAD2A or CHD4 mRNA had more advantageous overall survival.

ARCHIVES OF TOXICOLOGY (2022)

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Article Genetics & Heredity

New insights into the genetic etiology of Alzheimer's disease and related dementias

Celine Bellenguez et al.

Summary: By characterizing the genetic landscape of Alzheimer's disease and related dementias, new loci have been identified and a new genetic risk score associated with the risk of future Alzheimer's disease and dementia has been generated.

NATURE GENETICS (2022)

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Article Multidisciplinary Sciences

The HDAC inhibitor CI-994 acts as a molecular memory aid by facilitating synaptic and intracellular communication after learning

Allison M. Burns et al.

Summary: Long-term memory formation is influenced by synaptic plasticity, neuronal activity-dependent gene transcription, and epigenetic modifications. Studies have shown that HDAC inhibitors (HDACi) can enhance these processes and act as potential cognitive enhancers. This study explores the effects of combining the HDACi CI-994 with contextual fear conditioning (CFC) in mice and demonstrates that CI-994 treatment improves memory formation by enhancing long-term potentiation in the hippocampus, a brain region involved in fear learning. Furthermore, RNA sequencing analysis reveals that HDACi treatment increases synaptic plasticity-promoting gene expression, specifically in the dentate gyrus of the hippocampus, when paired with CFC. Chromatin immunoprecipitation-sequencing experiments show that the combined action of HDACi application and conditioning is necessary for enhancer histone acetylation in pathways underlying improved memory performance. These findings suggest that systemic administration of HDACi amplifies brain region-specific processes induced by learning.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)

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Review Biochemistry & Molecular Biology

The Role of Epigenetics in Neuroinflammatory-Driven Diseases

Sebastiano Giallongo et al.

Summary: Neurodegenerative disorders and neuroinflammation are closely linked, with inflammatory diseases leading to significant changes in the genome that affect the prognosis and treatment of neurodegenerative disorders.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Article Medicine, Research & Experimental

Role of primary aging hallmarks in Alzheimer´s disease

Jin Zhao et al.

Theranostics (2022)

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Article Medicine, General & Internal

Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes

Sang-Hyuk Jung et al.

Summary: This cohort study evaluated the transferability of a polygenic risk score (PRS) for Alzheimer's disease (AD) in the Korean population, using summary statistics from a prior genome-wide association study (GWAS) of European populations. The study found that the PRS derived from the European GWAS can identify individuals at a high risk for AD dementia in the Korean population, highlighting the importance of transancestry transferability and diversifying genetic studies of AD.

JAMA NETWORK OPEN (2022)

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Review Geriatrics & Gerontology

Epigenetics in Alzheimer's Disease

Xiaodie Gao et al.

Summary: Alzheimer's disease is a complex neurodegenerative disease with unknown causes and pathological changes. Targeted drug studies on the typical pathological phenomenon in AD have had high failure rates, and the existing drugs have low efficacy and significant side effects, leading to an urgent need for new treatment strategies. Increasing studies have shown epigenetic changes in AD, providing a new avenue for medical researchers worldwide.

FRONTIERS IN AGING NEUROSCIENCE (2022)

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Article Genetics & Heredity

Integrated analysis of direct and proxy genome wide association studies highlights polygenicity of Alzheimer's disease outside of the APOE region

Javier de la Fuente et al.

Summary: Recent meta-analyses have shown that the SNP heritability of Alzheimer's disease (AD) is very low, raising concerns about the prospects of genetic discovery for AD. By integrating GWAS and GWAX data, a novel method was validated for estimating SNP heritability. The genetic architecture of AD was investigated, revealing that the common variant SNP heritability of Clinical AD outside of APOE region is approximately 7-11%, and the corresponding estimate for AD pathology may be up to 23%. Nearly 90% of the common variant SNP heritability of Clinical AD exists outside the APOE region.

PLOS GENETICS (2022)

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Article Chemistry, Medicinal

Zinc-dependent deacetylases (HDACs) as potential targets for treating Alzheimer's disease

Yan Li et al.

Summary: This article summarizes the possible roles of HDACs in the pathophysiology of Alzheimer's disease and their inhibitors used in research, as well as discusses future prospects for using HDACs as epigenetic targets for treating AD.

BIOORGANIC & MEDICINAL CHEMISTRY LETTERS (2022)

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Review Biochemistry & Molecular Biology

Epigenetic Changes and Chromatin Reorganization in Brain Function: Lessons from Fear Memory Ensemble and Alzheimer's Disease

Brigitte van Zundert et al.

Summary: This article provides an overview of the role of chromatin organization and specific epigenetic mechanisms in the control of gene transcription in neural cells of healthy mice. It also discusses how changes in the epigenome and chromatin architecture contribute to transcriptional dysregulation in Alzheimer's disease. Additionally, potential new therapeutic strategies involving epigenetic editing and small chromatin-modifying molecules are discussed.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Review Biochemistry & Molecular Biology

Oncohistones: Exposing the nuances and vulnerabilities of epigenetic regulation

Michelle M. Mitchener et al.

Summary: Research over the past decade has revealed a new layer of epigenetic dysregulation, uncovering the association between somatic missense mutations in histones and human pathologies, especially cancer. While some of these mutations are believed to be key drivers of cancer, the effects of the majority of them on disease onset and progression are still unclear. Studies have shown that even at low dosage, histone mutants can corrupt chromatin states, providing insights into the intricate mechanisms of epigenetic control.

MOLECULAR CELL (2022)

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Review Genetics & Heredity

DNA methylation changes and inflammaging in aging-associated diseases

Mina Alimohammadi et al.

Summary: Aging is associated with physiological changes and an increased risk of chronic diseases. Inflammatory processes and abnormal DNA methylation during aging contribute to the development of various human disorders.

EPIGENOMICS (2022)

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Review Oncology

Crosstalk between metabolic reprogramming and epigenetics in cancer: updates on mechanisms and therapeutic opportunities

Tongxin Ge et al.

Summary: Reversible, spatial, and temporal regulation of metabolic reprogramming and epigenetic homeostasis are prominent hallmarks of carcinogenesis. This review summarizes the interplay between metabolism and epigenetics in cancer, highlighting their reciprocal modulation and potential therapeutic opportunities.

CANCER COMMUNICATIONS (2022)

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Review Biochemistry & Molecular Biology

The Role of Epigenetic Regulator SIRT1 in Balancing the Homeostasis and Preventing the Formation of Specific Soil of Metabolic Disorders and Related Cancers

Zsuzsanna Nemeth et al.

Summary: SIRT1 is an important protein that has been found to prolong lifespan and prevent or delay various diseases. Diseases such as COVID-19, metabolic disease, obesity, diabetes, Alzheimer's disease, cardiovascular disease, and depression are associated with imbalanced inflammatory processes and decreased SIRT1 levels. Lifestyle interventions such as calorie restriction, proper diet, physical activity, and emotional well-being can increase SIRT1 expression and potentially serve as preventive or complementary therapies in medical practice.

FRONTIERS IN BIOSCIENCE-LANDMARK (2022)

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Review Biochemistry & Molecular Biology

The role of histone modifications: from neurodevelopment to neurodiseases

Jisu Park et al.

Summary: Epigenetic regulatory mechanisms, such as histone modifications, play critical roles in fine-tuning gene expressions during neurogenesis, and aberrant modifications contribute to neurodegenerative and neuropsychiatric diseases.

SIGNAL TRANSDUCTION AND TARGETED THERAPY (2022)

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Article Medicine, General & Internal

Analysis of EZH2 Genetic Variants on Triple-Negative Breast Cancer Susceptibility and Pathology

Liang-Chih Liu et al.

Summary: Triple-negative breast cancer (TNBC) is the third most common female cancer in Taiwan, and EZH2 plays an important role in cancer development through transcriptional repression by chromatin remodeling. Low expression of EZH2 is associated with poor survival in TNBC patients, and specific EZH2 genetic variants may be linked to breast cancer risk. The study found that TNBC patients under 60 years old carrying certain EZH2 genotypes had smaller tumor sizes, highlighting the role of genetic polymorphisms in TNBC progression.

INTERNATIONAL JOURNAL OF MEDICAL SCIENCES (2022)

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Article Biochemistry & Molecular Biology

ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease

Priti Azad et al.

Summary: The protein ARID1B has been found to regulate red blood cell levels under low oxygen conditions, and this finding may have implications for blood disorders and certain types of tumors.

EXPERIMENTAL AND MOLECULAR MEDICINE (2022)

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Review Clinical Neurology

Genome-wide association studies for Alzheimer's disease: bigger is not always better

Valentina Escott-Price et al.

Summary: Large-scale genome-wide association studies on Alzheimer's disease have identified loci; however, many may be incorrectly designated due to misdiagnoses and sample selection issues. Neuropathologically confirmed data should be used to validate significant loci. Increasing the size of studies allows for better understanding of disease pathways and improved genetic risk prediction. However, there are problems in the current analysis of Alzheimer's disease, including misdiagnoses and younger population-based samples. These issues affect the heritability explained by the discovered genes. It is important to consider the implications of these findings in both basic research and clinical practice.

BRAIN COMMUNICATIONS (2022)

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Article Geriatrics & Gerontology

Regulation of the Late Onset alzheimer's Disease Associated HLA-DQA1/DRB1 Expression

Xiaoyu Zhang et al.

Summary: Genome-wide Association Studies have identified 42 late-onset Alzheimer's disease-associated loci, and some of these loci contain SNPs that can regulate the expression of risk genes. This study utilized novel techniques to identify 6 functional SNPs and found 42 proteins that specifically bind to these SNPs. It was also demonstrated that these proteins regulate the expression of HLA-DQA1 and HLA-DRB1 in human microglial cells.

AMERICAN JOURNAL OF ALZHEIMERS DISEASE AND OTHER DEMENTIAS (2022)

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Article Clinical Neurology

2022 Alzheimer's disease facts and figures

Joseph Gaugler et al.

Summary: This article discusses the impact of Alzheimer's disease on public health, including its incidence, prevalence, mortality and morbidity rates, healthcare costs and caregivers' burden. It also addresses the perspectives of consumers and primary care physicians on mild cognitive impairment (MCI) and the need for improved awareness, diagnosis, and treatment. The article emphasizes the increasing number of individuals living with Alzheimer's and the challenges faced by caregivers and healthcare providers, particularly during the COVID-19 pandemic.

ALZHEIMERS & DEMENTIA (2022)

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Review Cell Biology

The neurobiology of non-coding RNAs and Alzheimer's disease pathogenesis: Pathways, mechanisms and translational opportunities

Elisabetta Lauretti et al.

Summary: Non-protein-coding RNAs have been found to play significant roles in neurodegenerative disorders such as Alzheimer's disease, affecting gene expression, amyloid-beta production, and other key mechanisms underlying disease pathology.

AGEING RESEARCH REVIEWS (2021)

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Article Clinical Neurology

Cell type-specific potential pathogenic genes and functional pathways in Alzheimer's Disease

Xiao-Lan Wang et al.

Summary: Through the integration and analysis of 4,441 differentially expressed genes (DEGs) identified from single-nucleus RNA sequencing (snRNA-seq) of 263,370 cells in cortex samples from 42 AD pathology subjects and 39 normal controls, this study revealed common dysregulated pathways, including up-regulated LINGO1 in oligodendrocytes and excitatory neurons, and enrichment of genes in the mitochondrial module across all cell types, indicating mitochondrial dysfunction in the AD brain. The estrogen signaling pathway was identified as a disrupted pathway in AD.

BMC NEUROLOGY (2021)

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Review Biochemistry & Molecular Biology

Epigenetic Mechanisms in Memory and Cognitive Decline Associated with Aging and Alzheimer's Disease

Sabyasachi Maity et al.

Summary: Epigenetic mechanisms play a crucial role in regulating activity-dependent changes in gene transcription and are widely implicated in synaptic plasticity and memory formation in the brain. Dysregulation of these mechanisms is associated with memory decline in the aged brain and in neurodegenerative disorders, including Alzheimer's disease.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Biochemistry & Molecular Biology

Beyond HAT Adaptor: TRRAP Liaisons with Sp1-Mediated Transcription

Bo-Kun Yin et al.

Summary: Members of the PIKK family, including TRRAP, are crucial in various biological processes such as DNA damage response and transcription. TRRAP, despite lacking enzymatic activity, acts as an adapter protein and scaffold protein in regulating cell functions and gene transcription, particularly in neural homeostasis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Pharmacology & Pharmacy

SIRT1 and SIRT2 Activity Control in Neurodegenerative Diseases

Ramu Manjula et al.

Summary: Sirtuins, a group of NAD(+) dependent histone deacetylases, play a crucial role in neuroprotection and cellular senescence. They regulate crucial proteins and can be targeted for therapeutic purposes in metabolic disorders. Their modulation shows promise in treating neurodegenerative diseases associated with aging and protein homeostasis.

FRONTIERS IN PHARMACOLOGY (2021)

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Article Genetics & Heredity

Functional relationship of SNP (Ala490Thr) of an epigenetic gene EZH2 results in the progression and poor survival of ER plus /tamoxifen treated breast cancer patients

Nisha Gautam et al.

Summary: The study focused on clinically significant SNPs of EZH2 gene in relation to breast cancer susceptibility. Results indicated that a mutation in rs201135441C>T (A490T) may increase the risk of breast cancer, highlighting the potential clinical significance of EZH2 variations for prognosis, prevention, and drug development in breast cancer.

JOURNAL OF GENETICS (2021)

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Review Cell Biology

Get Out and Stay Out: New Insights Into DNA Methylation Reprogramming in Mammals

Maxim V. C. Greenberg

Summary: Vertebrate genomes are characterized by high levels of 5-cytosine DNA methylation (5meC), which plays a crucial role in repressing transposable elements and silencing germline-specific genes. Dysfunctional DNA methylation machinery may lead to lethality in fish, amphibians, and mammals. Mammals exhibit significant loss and regain of DNA methylation before and after the specification of germ cells.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

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Review Neurosciences

APOE and Alzheimer's Disease: From Lipid Transport to Physiopathology and Therapeutics

Mohammed Amir Husain et al.

Summary: Alzheimer's disease is a devastating neurodegenerative disorder characterized by abnormal protein aggregations, with the APOE gene playing a role in the risk of developing the disease. ApoE is a major lipid transporter in the CNS, involved in development, maintenance, and repair, as well as regulating important signaling pathways. Various apoE-based therapeutics are being developed for the treatment of AD.

FRONTIERS IN NEUROSCIENCE (2021)

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Review Biochemistry & Molecular Biology

Epigenetics of Alzheimer's Disease

Matea Nikolac Perkovic et al.

Summary: Validated biomarkers for accurately diagnosing Alzheimer's disease (AD) are currently lacking, but epigenetic modifications have been identified as important factors in the pathogenesis of AD. DNA methylation, hydroxymethylation, histone modifications, and non-coding RNA regulation play critical roles in the development of AD, while mitochondrial DNA may serve as a potential biomarker for AD.

BIOMOLECULES (2021)

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Article Psychiatry

Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers

Jong-Ho Park et al.

Summary: Alzheimer's disease is a progressively neurodegenerative disease with a complex genetic etiology. Genome-wide association studies have identified numerous genetic loci associated with the disease, with recent studies showing new risk loci in different ethnic groups, highlighting the importance of replicating studies and searching for novel variants. APOE-stratified GWAS have revealed novel AD risk loci that may be masked or dependent on APOE alleles.

TRANSLATIONAL PSYCHIATRY (2021)

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Article Psychiatry

Cell-type-specific expression quantitative trait loci associated with Alzheimer disease in blood and brain tissue

Devanshi Patel et al.

Summary: By investigating gene expression patterns in blood and brain cells related to Alzheimer's disease (AD), this study identified cell-type-specific expression patterns and potential new biomarkers for AD. The study further confirmed the important role of myeloid cells in AD risk.

TRANSLATIONAL PSYCHIATRY (2021)

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Review Cell Biology

The potential roles of genetic factors in predicting ageing-related cognitive change and Alzheimer's disease

Gongbu Pan et al.

Summary: Alzheimer's disease (AD) is a complex neurological disorder with uncertain etiology, influenced by both genetic factors and lifestyle. Despite decades of genetic research, much of the heritability of AD remains unexplained, suggesting potential associations with rare variants, gene-environment interactions, and epigenetic factors. Aging is a significant risk factor for AD, but longitudinal studies on the association of genetic factors with cognitive decline and preclinical stages are limited.

AGEING RESEARCH REVIEWS (2021)

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Article Genetics & Heredity

Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus

Leandro M. Colli et al.

Summary: The DPF3 variant at the 14q24 locus plays a critical role in RCC susceptibility, with its overexpression increasing cell growth rates and affecting gene expression and chromatin accessibility, resulting in decreased apoptosis and activation of oncogenic pathways.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Biochemistry & Molecular Biology

SNP rs4971059 predisposes to breast carcinogenesis and chemoresistance via TRIM46-mediated HDAC1 degradation

Zihan Zhang et al.

Summary: Identification of a new breast cancer risk locus, SNP rs4971059, has revealed its role in enhancing TRIM46 expression and promoting breast cancer cell proliferation and chemoresistance. TRIM46 acts as a ubiquitin ligase that targets histone deacetylase HDAC1 for degradation, regulating genes crucial in DNA replication and repair. Overexpression of TRIM46 in breast carcinomas is associated with worse prognosis, suggesting it as a potential target for breast cancer intervention.

EMBO JOURNAL (2021)

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Review Biochemistry & Molecular Biology

Emerging Single-Cell Technological Approaches to Investigate Chromatin Dynamics and Centromere Regulation in Human Health and Disease

Laura Leo et al.

Summary: Epigenetic regulators are crucial for maintaining gene expression states, and specific chromatin organization is fundamental for normal organogenesis. Single-cell epigenetic profiling has revealed intrinsic differences between cells within apparently homogeneous populations.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Article Biochemistry & Molecular Biology

A Panel of rSNPs Demonstrating Allelic Asymmetry in Both ChIP-seq and RNA-seq Data and the Search for Their Phenotypic Outcomes through Analysis of DEGs

Elena E. Korbolina et al.

Summary: This study used RNA-seq and ChIP-seq data from PAECs to search for rSNPs, identifying 14,266 rSNPs associated with allele-specific binding and expression. Statistical methods were utilized to improve efficiency, with a portion of the identified rSNPs being linked to GWAS phenotypes and eQTLs.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Biochemistry & Molecular Biology

Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases

Arina O. Degtyareva et al.

Summary: Many genetic variants affecting gene expression are found in the noncoding part of the genome, mainly through alterations in transcription factor binding. Advanced methods such as eQTL analysis and searching for allele-specific events in various sequencing data are used to identify regulatory variants and understand their functionality.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

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Review Genetics & Heredity

The transrepression and transactivation roles of CtBPs in the pathogenesis of different diseases

Zhi Chen

Summary: CtBPs play crucial roles in gene transcription as both corepressors and coactivators in various biological processes. Therapeutic targeting of CtBPs or the interactions required to form transcriptional complexes has shown promising effects in preventing disease progression.

JOURNAL OF MOLECULAR MEDICINE-JMM (2021)

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Article Multidisciplinary Sciences

DAXX represents a new type of protein-folding enabler

Liangqian Huang et al.

Summary: Protein quality control systems are crucial for cellular function and organismal health. Recent studies have shown that polyD/E proteins, such as DAXX, ANP32A, and SET, may constitute a multifunctional protein quality control system that operates via a distinctive mechanism without relying on ATP.

NATURE (2021)

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Article Multidisciplinary Sciences

BANP opens chromatin and activates CpG-island-regulated genes

Ralph S. Grand et al.

Summary: The study reveals that BANP is a critical transcription activator that binds to the CGCG element, controlling essential metabolic genes in pluripotent stem cells and neuronal cells. BANP binding is influenced by DNA methylation, restricting most binding to CGIs and explaining differential binding at CGI promoters in cancer cells. Additionally, BANP's binding to unmethylated motifs leads to chromatin opening and nucleosome phasing.

NATURE (2021)

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Article Neurosciences

Decreased MEF2A Expression Regulated by Its Enhancer Methylation Inhibits Autophagy and May Play an Important Role in the Progression of Alzheimer's Disease

Hui Li et al.

Summary: Our study identified that autophagy-related genes in Alzheimer's disease are regulated by MEF2A and correlated with pathological progression. Increased methylation level of MEF2A enhancer is associated with reduced expression of MEF2A and downregulation of autophagy-related genes in AD.

FRONTIERS IN NEUROSCIENCE (2021)

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Article Genetics & Heredity

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Pleuntje J. van der Sluijs et al.

Summary: ARID1B is one of the most frequently mutated genes in intellectual disability, with most variants being de novo and predicted to lead to loss of function. Familial loss-of-function variants with variable expression have been observed, and regions lacking pathogenic variants may not lead to ARID1B haploinsufficiency. Clinical and DNA methylation studies have helped classify most variants, and transmission of pathogenic variants in some families confirms their highly variable expression. Further evidence suggests an alternative translational start site and updates to ACMG guidelines are recommended to incorporate DNA methylation studies and facial analyses.

GENES (2021)

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Review Biochemistry & Molecular Biology

Role of Mammalian DNA Methyltransferases in Development

Zhiyuan Chen et al.

ANNUAL REVIEW OF BIOCHEMISTRY, VOL 89 (2020)

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Review Neurosciences

Alzheimer's Disorder: Epigenetic Connection and Associated Risk Factors

Vivek Kumar Sharma et al.

CURRENT NEUROPHARMACOLOGY (2020)

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Article Multidisciplinary Sciences

Two conserved epigenetic regulators prevent healthy ageing

Jie Yuan et al.

NATURE (2020)

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Review Cell Biology

Impact of HMGB1, RAGE, and TLR4 in Alzheimer's Disease (AD): From Risk Factors to Therapeutic Targeting

Yam Nath Paudel et al.

CELLS (2020)

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Review Pharmacology & Pharmacy

Histone Deacetylases Inhibitors in Neurodegenerative Diseases, Neuroprotection and Neuronal Differentiation

Surabhi Shukla et al.

FRONTIERS IN PHARMACOLOGY (2020)

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Review Physiology

Involvement of Lipids in Alzheimer's Disease Pathology and Potential Therapies

Hannah Chew et al.

FRONTIERS IN PHYSIOLOGY (2020)

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Review Environmental Sciences

Epigenetic Basis of Lead-Induced Neurological Disorders

Tian Wang et al.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2020)

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Review Biochemistry & Molecular Biology

The Emerging Role of ATP-Dependent Chromatin Remodeling in Memory and Substance Use Disorders

Alberto J. Lopez et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Article Biochemistry & Molecular Biology

The SNPs rs429358 and rs7412 ofAPOEgene are association with cerebral infarction but not SNPs rs2306283 and rs4149056 ofSLCO1B1gene in southern Chinese Hakka population

Heming Wu et al.

LIPIDS IN HEALTH AND DISEASE (2020)

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Article Genetics & Heredity

An integrated multi-omics approach identifies epigenetic alterations associated with Alzheimer's disease

Raffaella Nativio et al.

NATURE GENETICS (2020)

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Article Multidisciplinary Sciences

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang et al.

NATURE COMMUNICATIONS (2020)

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Review Clinical Neurology

Epigenetics: Recent Advances and Its Role in the Treatment of Alzheimer's Disease

Xuewen Xiao et al.

FRONTIERS IN NEUROLOGY (2020)

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Review Cell Biology

Ubiquitin, Autophagy and Neurodegenerative Diseases

Yoshihisa Watanabe et al.

CELLS (2020)

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Review Cell Biology

Functional roles and networks of non-coding RNAs in the pathogenesis of neurodegenerative diseases

Yi-Ying Wu et al.

JOURNAL OF BIOMEDICAL SCIENCE (2020)

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Article Genetics & Heredity

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Brian W. Kunkle et al.

NATURE GENETICS (2019)

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Article Geriatrics & Gerontology

Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs

Yuriko Katsumata et al.

NEUROBIOLOGY OF AGING (2019)

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Review Neurosciences

A Quarter Century of APOE and Alzheimer's Disease: Progress to Date and the Path Forward

Michael E. Belloy et al.

NEURON (2019)

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Review Genetics & Heredity

The BAF complex in development and disease

Amelie Alfert et al.

EPIGENETICS & CHROMATIN (2019)

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Review Genetics & Heredity

From Genotype to Phenotype: Through Chromatin

Julia Romanowska et al.

GENES (2019)

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Article Endocrinology & Metabolism

CTBP1 Confers Protection for Hippocampal and Cortical Neurons in Rat Models of Alzheimer's Disease

Kai Hu et al.

NEUROIMMUNOMODULATION (2019)

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Review Genetics & Heredity

Chromatin Remodeling Complex NuRD in Neurodevelopment and Neurodevelopmental Disorders

Anke Hoffmann et al.

FRONTIERS IN GENETICS (2019)

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Review Neurosciences

The neuropathological diagnosis of Alzheimer's disease

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