The X Files: “The Mystery of X Chromosome Instability in Alzheimer’s Disease”

Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability

(2019) Thainá Fernandez Gonçalves et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Mitophagy inhibits amyloid-β and tau pathology and reverses cognitive deficits in models of Alzheimer’s disease

(2019) Evandro F. Fang et al.   NATURE NEUROSCIENCE

The latest progress on miR-374 and its functional implications in physiological and pathological processes

(2019) Hongjun Bian et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Alborixin clears amyloid-β by inducing autophagy through PTEN-mediated inhibition of the AKT pathway

(2019) Abubakar Wani et al.   Autophagy

How do genes that escape from X‐chromosome inactivation contribute to Turner syndrome?

(2019) Samantha B. Peeters et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A patient with early-onset Alzheimer's disease with a novel PSEN1 p.Leu424Pro mutation

(2019) Gamze Guven et al.   NEUROBIOLOGY OF AGING

FMRP - G-quadruplex mRNA - miR-125a interactions: Implications for miR-125a mediated translation regulation of PSD-95 mRNA

(2019) Brett DeMarco et al.   PLoS One

Varying levels of X chromosome coalescence in female somatic cells alters the balance of X-linked dosage compensation and is implicated in female-dominant systemic lupus erythematosus

(2019) Agnieszka I. Laskowski et al.   Scientific Reports

Chromosome Instability in the Neurodegenerating Brain

(2019) Yuri B. Yurov et al.   Frontiers in Genetics

Somatic mosaicism of sex chromosomes in the blood and brain

(2019) Emma J. Graham et al.   BRAIN RESEARCH

Spontaneous development of Alzheimer's disease-associated brain pathology in a Shugoshin-1 mouse cohesinopathy model

(2018) Chinthalapally V. Rao et al.   AGING CELL

Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP

(2018) Frances K Wiseman et al.   BRAIN

Sex-chromosome dosage effects on gene expression in humans

(2018) Armin Raznahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Into the Fourth Dimension: Dysregulation of Genome Architecture in Aging and Alzheimer’s Disease

(2018) Warren Winick-Ng et al.   Frontiers in Molecular Neuroscience

Skewed X-Chromosome Inactivation in Women Affected by Alzheimer's Disease

(2018) Vladan Bajic et al.   JOURNAL OF ALZHEIMERS DISEASE

Cell cycle reentry triggers hyperploidization and synaptic dysfunction followed by delayed cell death in differentiated cortical neurons

(2018) E. Barrio-Alonso et al.   Scientific Reports

Skewed X-inactivation is common in the general female population

(2018) Ekaterina Shvetsova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

(2017) Jessica Le Gall et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

microRNA 221 Targets ADAM10 mRNA and is Downregulated in Alzheimer’s Disease

(2017) Patricia R. Manzine et al.   JOURNAL OF ALZHEIMERS DISEASE

Inhibition of PTEN Attenuates Endoplasmic Reticulum Stress and Apoptosis via Activation of PI3K/AKT Pathway in Alzheimer’s Disease

(2017) Weigang Cui et al.   NEUROCHEMICAL RESEARCH

Whole Genome Expression Analysis in a Mouse Model of Tauopathy Identifies MECP2 as a Possible Regulator of Tau Pathology

(2017) Nicole M. Maphis et al.   Frontiers in Molecular Neuroscience

Sex and the development of Alzheimer's disease

(2016) Christian J. Pike   JOURNAL OF NEUROSCIENCE RESEARCH

Escape Artists of the X Chromosome

(2016) Bradley P. Balaton et al.   TRENDS IN GENETICS

CRISPR Inversion of CTCF Sites Alters Genome Topology and Enhancer/Promoter Function

(2015) Ya Guo et al.   CELL

Alterations of the X Chromosome in Lymphocytes of Alzheimer’s Disease Patients

(2015) Biljana Spremo-Potparevic et al.   Current Alzheimer Research

ApoE4 and A  Oligomers Reduce BDNF Expression via HDAC Nuclear Translocation

(2015) A. Sen et al.   JOURNAL OF NEUROSCIENCE

Three-dimensional genome architecture: players and mechanisms

(2015) Ana Pombo et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Aberrant intracellular localization of H3k4me3 demonstrates an early epigenetic phenomenon in Alzheimer's disease

(2015) Diego Mastroeni et al.   NEUROBIOLOGY OF AGING

Cohesion and the aneuploid phenotype in Alzheimer's disease: A tale of genome instability

(2015) Vladan Bajic et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

A comprehensive Xist interactome reveals cohesin repulsion and an RNA-directed chromosome conformation

(2015) A. Minajigi et al.   SCIENCE

Distinct X-chromosome SNVs from some sporadic AD samples

(2015) A. Gómez-Ramos et al.   Scientific Reports

A new light on DNA replication from the inactive X chromosome

(2014) Mirit I. Aladjem et al.   BIOESSAYS

Genome regulation at the peripheral zone: lamina associated domains in development and disease

(2014) Teresa R Luperchio et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Evidence for Local Regulatory Control of Escape from Imprinted X Chromosome Inactivation

(2014) Joshua W. Mugford et al.   GENETICS

Cognitive and neurological aspects of sex chromosome aneuploidies

(2014) David S Hong et al.   LANCET NEUROLOGY

REST and stress resistance in ageing and Alzheimer’s disease

(2014) Tao Lu et al.   NATURE

Long noncoding RNAs: an emerging link between gene regulation and nuclear organization

(2014) Sofia Quinodoz et al.   TRENDS IN CELL BIOLOGY

MeCP2: the long trip from a chromatin protein to neurological disorders

(2014) Juan Ausió et al.   TRENDS IN MOLECULAR MEDICINE

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

(2014) Xuyu Cai et al.   Cell Reports

X chromosome aneuploidy in the Alzheimer’s disease brain

(2014) Yuri B Yurov et al.   Molecular Cytogenetics

Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

(2013) Nisa K E Renault et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MeCP2: a novel Huntingtin interactor

(2013) K. N. McFarland et al.   HUMAN MOLECULAR GENETICS

DNA Damage in Alzheimer Disease Lymphocytes and Its Relation to Premature Centromere Division

(2013) Lada Živkovic et al.   Neurodegenerative Diseases

Acute Inactivation of PSD-95 Destabilizes AMPA Receptors at Hippocampal Synapses

(2013) Guillermo A. Yudowski et al.   PLoS One

Changes in neuronal DNA content variation in the human brain during aging

(2012) Hans-Georg Fischer et al.   AGING CELL

Association of GWAS Top Hits With Late-onset Alzheimer Disease in Korean Population

(2012) Sun Ju Chung et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

(2012) Gilad D. Evrony et al.   CELL

Gender, sex steroid hormones, and Alzheimer's disease

(2012) Rebekah S. Vest et al.   HORMONES AND BEHAVIOR

Systemic immune challenges trigger and drive Alzheimer-like neuropathology in mice

(2012) Dimitrije Krstic et al.   Journal of Neuroinflammation

Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome

(2012) E. Pessia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lack of association between protocadherin 11-X/Y (PCDH11X and PCDH11Y) polymorphisms and late onset Alzheimer's disease

(2011) Ana Miar et al.   BRAIN RESEARCH

The inactive X chromosome adopts a unique three-dimensional conformation that is dependent on Xist RNA

(2011) E. Splinter et al.   GENES & DEVELOPMENT

Evolutionary diversity and developmental regulation of X-chromosome inactivation

(2011) Martin Escamilla-Del-Arenal et al.   HUMAN GENETICS

Twenty years of Alzheimer’s disease-causing mutations

(2011) Alison Goate et al.   JOURNAL OF NEUROCHEMISTRY

Reversible Inhibition of PSD-95 mRNA Translation by miR-125a, FMRP Phosphorylation, and mGluR Signaling

(2011) Ravi S. Muddashetty et al.   MOLECULAR CELL

Susceptibility to Aneuploidy in Young Mothers of Down Syndrome Children

(2011) Lucia Migliore et al.   TheScientificWorldJOURNAL

Selective Cell Death of Hyperploid Neurons in Alzheimer’s Disease

(2010) Thomas Arendt et al.   AMERICAN JOURNAL OF PATHOLOGY

Lack of association between PCDH11X genetic variation and late-onset Alzheimer's disease in a Han Chinese population

(2010) Zhong-Chen Wu et al.   BRAIN RESEARCH

Somatic Genome Variations in Health and Disease

(2010) I. Iourov et al.   CURRENT GENOMICS

Neuronal DNA content variation (DCV) with regional and individual differences in the human brain

(2010) Jurjen W. Westra et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Review Article: Genetics of Alzheimer Disease

(2010) Lynn M. Bekris et al.   JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY

Premature Centromere Division of Metaphase Chromosomes in Peripheral Blood Lymphocytes of Alzheimer's Disease Patients: Relation to Gender and Age

(2010) L. Zivkovic et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility

(2010) Gary W. Beecham et al.   PSYCHIATRIC GENETICS

Non-apolipoprotein E and apolipoprotein E genetics of sporadic Alzheimer's disease

(2009) Davide Seripa et al.   AGEING RESEARCH REVIEWS

The Role of DNA Copy Number Variation in Schizophrenia

(2009) Gloria W.C. Tam et al.   BIOLOGICAL PSYCHIATRY

X chromosome inactivation in clinical practice

(2009) Karen Helene Ørstavik   HUMAN GENETICS

The X-chromosome instability phenotype in Alzheimer’s disease: A clinical sign of accelerating aging?

(2009) Vladan P. Bajić et al.   MEDICAL HYPOTHESES

Targeted tandem affinity purification of PSD-95 recovers core postsynaptic complexes and schizophrenia susceptibility proteins

(2009) Esperanza Fernández et al.   Molecular Systems Biology

Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease

(2009) Minerva M Carrasquillo et al.   NATURE GENETICS

Aneuploidy in the normal, Alzheimer's disease and ataxia-telangiectasia brain: Differential expression and pathological meaning

(2009) Ivan Y. Iourov et al.   NEUROBIOLOGY OF DISEASE

Aneuploidy: From a Physiological Mechanism of Variance to Down Syndrome

(2009) Mara Dierssen et al.   PHYSIOLOGICAL REVIEWS

Molecular Cytogenetics and Cytogenomics of Brain Diseases

(2008) I. Iourov et al.   CURRENT GENOMICS

Premature centromere division of the X chromosome in neurons in Alzheimer’s disease

(2008) Biljana Spremo-Potparević et al.   JOURNAL OF NEUROCHEMISTRY

Alzheimer Disease Pathology As a Host Response

(2008) Rudy J. Castellani et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY