Molecular Genetics of Neurodegenerative Dementias

Alzheimer’s Disease Risk Genes and Mechanisms of Disease Pathogenesis

(2015) Celeste M. Karch et al.   BIOLOGICAL PSYCHIATRY

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

C9orf72 repeats compromise nucleocytoplasmic transport

(2015) Marka van Blitterswijk et al.   Nature Reviews Neurology

From molecule to molecule and cell to cell: Prion-like mechanisms in amyotrophic lateral sclerosis

(2015) Leslie I. Grad et al.   NEUROBIOLOGY OF DISEASE

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

(2015) Catherine Labbé et al.   NEUROLOGY

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

(2015) Helene Tran et al.   NEURON

Review: Prion-like mechanisms of transactive response DNA binding protein of 43 kDa (TDP-43) in amyotrophic lateral sclerosis (ALS)

(2015) Phillip Smethurst et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Invited review: Frontotemporal dementia caused bymicrotubule-associated protein taugene (MAPT) mutations: a chameleon for neuropathology and neuroimaging

(2015) Bernardino Ghetti et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Alzheimer's and Parkinson's diseases: The prion concept in relation to assembled A , tau, and  -synuclein

(2015) M. Goedert   SCIENCE

A Multiancestral Genome-Wide Exome Array Study of Alzheimer Disease, Frontotemporal Dementia, and Progressive Supranuclear Palsy

(2015) Jason A. Chen et al.   JAMA Neurology

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

(2015) Johnathan Cooper-Knock et al.   PLoS One

Frontotemporal dementia: a bridge between dementia and neuromuscular disease

(2014) Adeline S.L. Ng et al.   Annals of the New York Academy of Sciences

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS

(2014) Janis Bennion Callister et al.   EXPERIMENTAL NEUROLOGY

Progranulin polymorphism rs5848 is associated with increased risk of Alzheimer's disease

(2014) Jinghao Sheng et al.   GENE

C9ORF72in Dementia with Lewy bodies

(2014) Andrew Robinson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and  C9orf72 repeat expansions

(2014) Serena Lattante et al.   NEUROBIOLOGY OF AGING

Distinct Tau Prion Strains Propagate in Cells and Mice and Define Different Tauopathies

(2014) David W. Sanders et al.   NEURON

Alzheimer’s Disease Genetics: From the Bench to the Clinic

(2014) Celeste M. Karch et al.   NEURON

Distinct synthetic A  prion strains producing different amyloid deposits in bigenic mice

(2014) J. Stohr et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Proteopathic tau seeding predicts tauopathy in vivo

(2014) B. B. Holmes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Serial propagation of distinct strains of A  prions from Alzheimer's disease patients

(2014) J. C. Watts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Progranulin in neurodegenerative disease

(2014) Terri L. Petkau et al.   TRENDS IN NEUROSCIENCES

Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias

(2014) Gary W. Beecham et al.   PLoS Genetics

Protein Transmission, Seeding and Degradation: Key Steps for α-Synuclein Prion-Like Propagation

(2014) Abid Oueslati et al.   Experimental Neurobiology

Biology and Genetics of Prions Causing Neurodegeneration

(2013) Stanley B. Prusiner   Annual Review of Genetics

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Familial Dementia With Frontotemporal Features Associated With M146V Presenilin-1 Mutation

(2013) Miguel A. Riudavets et al.   BRAIN PATHOLOGY

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders

(2013) J. Janssens et al.   HUMAN MOLECULAR GENETICS

Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African Americans

(2013) Christiane Reitz et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Confluence of α-Synuclein, Tau, and β-Amyloid Pathologies in Dementia With Lewy Bodies

(2013) Martí Colom-Cadena et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Tau pathology and neurodegeneration

(2013) Maria Grazia Spillantini et al.   LANCET NEUROLOGY

C9ORF72 Mutations in Neurodegenerative Diseases

(2013) Ying Liu et al.   MOLECULAR NEUROBIOLOGY

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy

(2013) Chia-Chen Liu et al.   Nature Reviews Neurology

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

(2013) Fernando Bartolome et al.   NEURON

The Function of α-Synuclein

(2013) Jacob T. Bendor et al.   NEURON

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer’s Disease

(2013) Carlos Cruchaga et al.   NEURON

SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

(2013) Akinori Miyashita et al.   PLoS One

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Dementia with Lewy Bodies

(2013) Jennifer Molano   SEMINARS IN NEUROLOGY

Prion Diseases

(2013) Leonel Takada et al.   SEMINARS IN NEUROLOGY

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Neuropathological Alterations in Alzheimer Disease

(2013) A. Serrano-Pozo et al.   Cold Spring Harbor Perspectives in Medicine

The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

The genetics and neuropathology of frontotemporal lobar degeneration

(2012) Anne Sieben et al.   ACTA NEUROPATHOLOGICA

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

(2012) Giovanni Coppola et al.   HUMAN MOLECULAR GENETICS

Membrane Orientation and Subcellular Localization of Transmembrane Protein 106B (TMEM106B), a Major Risk Factor for Frontotemporal Lobar Degeneration

(2012) Christina M. Lang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

BLOC-2, AP-3, and AP-1 Proteins Function in Concert with Rab38 and Rab32 Proteins to Mediate Protein Trafficking to Lysosome-related Organelles

(2012) Jarred J. Bultema et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 and FUS RNA-binding Proteins Bind Distinct Sets of Cytoplasmic Messenger RNAs and Differently Regulate Their Post-transcriptional Fate in Motoneuron-like Cells

(2012) Claudia Colombrita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models

(2012) Gernot Kleinberger et al.   MOLECULAR NEUROBIOLOGY

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

Klotho as a potential biomarker and therapy for acute kidney injury

(2012) Ming-Chang Hu et al.   Nature Reviews Nephrology

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

(2012) Eleanna Kara et al.   NEUROBIOLOGY OF AGING

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

(2012) Martin A. Kohli et al.   NEUROBIOLOGY OF AGING

GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

(2012) D. Tsuang et al.   NEUROLOGY

Endosomal sorting related protein CHMP2B is localized in Lewy bodies and glial cytoplasmic inclusions in α-synucleinopathy

(2012) Satoshi Tanikawa et al.   NEUROSCIENCE LETTERS

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Unifying Role for Prions in Neurodegenerative Diseases

(2012) S. B. Prusiner   SCIENCE

APOE ϵ4 Increases Risk for Dementia in Pure Synucleinopathies

(2012) Debby Tsuang et al.   JAMA Neurology

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

Recent advances in p97/VCP/Cdc48 cellular functions

(2011) Kunitoshi Yamanaka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

(2011) Julie van der Zee et al.   BRAIN

Cellular toxicity of expanded RNA repeats: focus on RNA foci

(2011) Marzena Wojciechowska et al.   HUMAN MOLECULAR GENETICS

Seeding of Normal Tau by Pathological Tau Conformers Drives Pathogenesis of Alzheimer-like Tangles

(2011) Jing L. Guo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structure, Function, and Mechanism of Progranulin; the Brain and Beyond

(2011) Huishi Toh et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Exome sequencing: a transformative technology

(2011) Andrew B Singleton   LANCET NEUROLOGY

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

(2011) E Genin et al.   MOLECULAR PSYCHIATRY

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

(2011) Adam C Naj et al.   NATURE GENETICS

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

(2011) Paul Hollingworth et al.   NATURE GENETICS

The amyloid cascade hypothesis for Alzheimer's disease: an appraisal for the development of therapeutics

(2011) Eric Karran et al.   NATURE REVIEWS DRUG DISCOVERY

Functional Genomic Analyses Identify Pathways Dysregulated by Progranulin Deficiency, Implicating Wnt Signaling

(2011) Ezra Y. Rosen et al.   NEURON

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Human apoE Isoforms Differentially Regulate Brain Amyloid-  Peptide Clearance

(2011) J. M. Castellano et al.   Science Translational Medicine

miR-107 Regulates Granulin/Progranulin with Implications for Traumatic Brain Injury and Neurodegenerative Disease

(2010) Wang-Xia Wang et al.   AMERICAN JOURNAL OF PATHOLOGY

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease

(2010) Sudha Seshadri   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The Prion Diseases

(2010) Khalilah Brown et al.   JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY

The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE

(2010) Rita J. Guerreiro et al.   NEUROBIOLOGY OF AGING

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

(2010) N. Finch et al.   NEUROLOGY

MicroRNA-29b Regulates the Expression Level of Human Progranulin, a Secreted Glycoprotein Implicated in Frontotemporal Dementia

(2010) Jian Jiao et al.   PLoS One

Progranulin is Neurotrophic In Vivo and Protects against a Mutant TDP-43 Induced Axonopathy

(2010) Angela S. Laird et al.   PLoS One

Progranulin is expressed within motor neurons and promotes neuronal cell survival

(2009) Cara L Ryan et al.   BMC NEUROSCIENCE

Recent advances in the genetics of amyotrophic lateral sclerosis

(2009) Paul N. Valdmanis et al.   Current Neurology and Neuroscience Reports

Propagation of Tau Misfolding from the Outside to the Inside of a Cell

(2009) Bess Frost et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Twin pairs discordant for neuropathologically confirmed Lewy body dementia

(2009) C Sheei-Meei Wang et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

(2009) Jean-Charles Lambert et al.   NATURE GENETICS

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

(2009) Denise Harold et al.   NATURE GENETICS

The heritability and genetics of frontotemporal lobar degeneration

(2009) J. D. Rohrer et al.   NEUROLOGY

The Role of Apolipoprotein E in Alzheimer's Disease

(2009) Jungsu Kim et al.   NEURON

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

(2009) Simon Mead et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recent insights into the molecular genetics of dementia

(2009) Rosa Rademakers et al.   TRENDS IN NEUROSCIENCES

Gene expression study on peripheral blood identifies progranulin mutations

(2008) Giovanni Coppola et al.   ANNALS OF NEUROLOGY

Recent advances in the genetics of dementia with Lewy bodies

(2008) Vincenzo Bonifati   Current Neurology and Neuroscience Reports

Amyloid Precursor Protein Trafficking, Processing, and Function

(2008) Gopal Thinakaran et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

(2008) Philip Van Damme et al.   JOURNAL OF CELL BIOLOGY

Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study

(2008) Simon Mead et al.   LANCET NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

(2008) N. Brouwers et al.   NEUROLOGY

INTRAFAMILIAL DIVERSITY OF PHENOTYPE ASSOCIATED WITH APP DUPLICATION

(2008) I. Guyant-Marechal et al.   NEUROLOGY

Distinct genetic forms of frontotemporal dementia

(2008) H. Seelaar et al.   NEUROLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics