The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis—Frontotemporal Dementia

SVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan

(2021) Alyssa E. Johnson et al.   Nature Communications

VCP/p97 regulates Beclin-1-dependent autophagy initiation

(2021) Sandra M. Hill et al.   Nature Chemical Biology

S-nitrosylated TDP-43 triggers aggregation, cell-to-cell spread, and neurotoxicity in hiPSCs and in vivo models of ALS/FTD

(2021) Elaine Pirie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Current Concepts on Genetic Aspects of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis

(2021) Milena Jankovic et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

ALS phenotype is influenced by age, sex, and genetics

(2020) Adriano Chiò et al.   NEUROLOGY

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2020) Yevgeniya A. Abramzon et al.   Frontiers in Neuroscience

Valosin-Containing Protein, a Calcium-Associated ATPase Protein, in Endoplasmic Reticulum and Mitochondrial Function and Its Implications for Diseases

(2020) Xiaonan Sun et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Phenotypic variability in ALS-FTD and effect on survival

(2020) Rebekah M. Ahmed et al.   NEUROLOGY

Drosophila VCP/p97 Mediates Dynein-Dependent Retrograde Mitochondrial Motility in Axons

(2020) Ashley E. Gonzalez et al.   Frontiers in Cell and Developmental Biology

Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2020) Timothy Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

ALS Genetics: Gains, Losses, and Implications for Future Therapies

(2020) Garam Kim et al.   NEURON

Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau

(2020) Nabil F. Darwich et al.   SCIENCE

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

(2019) Khalid Arhzaouy et al.   Autophagy

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Primary lateral sclerosis: a distinct entity or part of the ALS spectrum?

(2019) Eoin Finegan et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

An update on genetic frontotemporal dementia

(2019) Caroline V. Greaves et al.   JOURNAL OF NEUROLOGY

Granulin in Frontotemporal Lobar Degeneration: Molecular Mechanisms of the Disease

(2019) Zemfira N. Karamysheva et al.   Frontiers in Neuroscience

The ubiquitin‐conjugating enzyme UBE 2 QL 1 coordinates lysophagy in response to endolysosomal damage

(2019) Lisa Koerver et al.   EMBO REPORTS

Repair or Lysophagy: Dealing with Damaged Lysosomes

(2019) Chrisovalantis Papadopoulos et al.   JOURNAL OF MOLECULAR BIOLOGY

Cognitive, Emotional and Psychological Manifestations in Amyotrophic Lateral Sclerosis at Baseline and Overtime: A Review

(2019) Soumia Benbrika et al.   Frontiers in Neuroscience

ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

(2019) Rita Mejzini et al.   Frontiers in Neuroscience

Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo

(2018) Monika Kustermann et al.   Autophagy

VCP/p97/Cdc48, A Linking of Protein Homeostasis and Cancer Therapy

(2018) B. Lan et al.   CURRENT MOLECULAR MEDICINE

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Genotype–phenotype links in frontotemporal lobar degeneration

(2018) Sara Van Mossevelde et al.   Nature Reviews Neurology

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

(2018) Dario Saracino et al.   NEUROBIOLOGY OF AGING

Lysosome trafficking and signaling in health and neurodegenerative diseases

(2018) Pearl P.Y. Lie et al.   NEUROBIOLOGY OF DISEASE

MRI Signatures of Brain Macrostructural Atrophy and Microstructural Degradation in Frontotemporal Lobar Degeneration Subtypes

(2018) Yu Zhang et al.   JOURNAL OF ALZHEIMERS DISEASE

Three VCP Mutations in Patients with Frontotemporal Dementia

(2018) Tsz Hang Wong et al.   JOURNAL OF ALZHEIMERS DISEASE

Riluzole and edaravone: A tale of two amyotrophic lateral sclerosis drugs

(2018) Manoj Kumar Jaiswal   MEDICINAL RESEARCH REVIEWS

UBXD1 is a mitochondrial recruitment factor for p97/VCP and promotes mitophagy

(2018) Ana C. Bento et al.   Scientific Reports

TDP-43 enhances translation of specific mRNAs linked to neurodegenerative disease

(2018) Nagammal Neelagandan et al.   NUCLEIC ACIDS RESEARCH

Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons

(2017) Marthe H. R. Ludtmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Roles for the VCP co-factors Npl4 and Ufd1 in neuronal function in Drosophila melanogaster

(2017) Dwayne J. Byrne et al.   Journal of Genetics and Genomics

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Exploiting conformational plasticity in the AAA+ protein VCP/p97 to modify function

(2017) Anne Kathrin Schütz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS and frontotemporal dementia belong to a common disease spectrum

(2017) P. Couratier et al.   REVUE NEUROLOGIQUE

Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS

(2017) Claire E. Hall et al.   Cell Reports

Young-onset rapidly progressive ALS associated with heterozygous FUS mutation

(2017) Marta Gromicho et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

(2017) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants

(2017) Ting Zhang et al.   eLife

The Enigmatic Role of C9ORF72 in Autophagy

(2017) Melissa Nassif et al.   Frontiers in Neuroscience

The neural correlates and clinical characteristics of psychosis in the frontotemporal dementia continuum and the C9orf72 expansion

(2017) Emma M Devenney et al.   NeuroImage-Clinical

Valosin-containing protein (VCP): structure, functions, and implications in neurodegenerative diseases

(2016) Bo Kyoung Yeo et al.   Animal Cells and Systems

Genetics of Frontotemporal Dementia

(2016) Diana A. Olszewska et al.   Current Neurology and Neuroscience Reports

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy

(2016) Chrisovalantis Papadopoulos et al.   EMBO JOURNAL

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

(2016) Bart P van de Warrenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

(2016) Ian R. A. Mackenzie et al.   JOURNAL OF NEUROCHEMISTRY

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

(2016) Antonia Ratti et al.   JOURNAL OF NEUROCHEMISTRY

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

(2016) Teresinha Evangelista et al.   NEUROMUSCULAR DISORDERS

Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution

(2016) G. De Marco et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

An Amyloid-Like Pathological Conformation of TDP-43 Is Stabilized by Hypercooperative Hydrogen Bonds

(2016) Miguel Mompeán et al.   Frontiers in Molecular Neuroscience

Genotype-phenotype correlations of amyotrophic lateral sclerosis

(2016) Hong-Fu Li et al.   Translational Neurodegeneration

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice

(2016) Amanda Atanasio et al.   Scientific Reports

Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

(2015) Shangxi Xiao et al.   ANNALS OF NEUROLOGY

Autophagy in malignant transformation and cancer progression

(2015) L. Galluzzi et al.   EMBO JOURNAL

Prion-like domains in RNA binding proteins are essential for building subnuclear paraspeckles

(2015) Sven Hennig et al.   JOURNAL OF CELL BIOLOGY

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

Inhibitors of the AAA+ Chaperone p97

(2015) Eli Chapman et al.   MOLECULES

Clinical spectrum of valosin containing protein (VCP)-opathy

(2015) Mohamed Kazamel et al.   MUSCLE & NERVE

Familial Amyotrophic Lateral Sclerosis

(2015) Kevin Boylan   NEUROLOGIC CLINICS

Altered cofactor regulation with disease-associated p97/VCP mutations

(2015) Xiaoyi Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia

(2015) Alberto Benussi et al.   Frontiers in Aging Neuroscience

Targeted Excision of VCP R155H Mutation by Cre-LoxPTechnology as a Promising Therapeutic Strategy for Valosin-Containing Protein Disease

(2015) Angèle Nalbandian et al.   Human Gene Therapy Methods

A revision of the El Escorial criteria - 2015

(2015) Albert Ludolph et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis

(2015) Satoshi Yamashita et al.   Translational Neurodegeneration

Rapamycin and Chloroquine: The In Vitro and In Vivo Effects of Autophagy-Modifying Drugs Show Promising Results in Valosin Containing Protein Multisystem Proteinopathy

(2015) Angèle Nalbandian et al.   PLoS One

The Cognitive and Behavioural Profile of Amyotrophic Lateral Sclerosis: Application of the Consensus Criteria

(2014) Monica Consonni et al.   BEHAVIOURAL NEUROLOGY

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease

(2014) Michael A. Gonzalez et al.   BRAIN

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Treatment of Frontotemporal Dementia

(2014) Richard M. Tsai et al.   Current Treatment Options in Neurology

The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis

(2014) H. Meyer et al.   JOURNAL OF CELL SCIENCE

Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations

(2014) Gianluca Floris et al.   JOURNAL OF NEUROLOGY

New criteria for frontotemporal dementia syndromes: clinical and pathological diagnostic implications

(2014) L. Chare et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The role of FUS gene variants in neurodegenerative diseases

(2014) Hao Deng et al.   Nature Reviews Neurology

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

(2014) S. Lattante et al.   NEUROLOGY

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

(2014) Takashi Ayaki et al.   Acta Neuropathologica Communications

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

Rapamycin-induced autophagy aggravates pathology and weakness in a mouse model of VCP-associated myopathy

(2013) James K. Ching et al.   Autophagy

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

(2013) Serena Lattante et al.   HUMAN MUTATION

Altered Intersubunit Communication Is the Molecular Basis for Functional Defects of Pathogenic p97 Mutants

(2013) Wai Kwan Tang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The RNA-binding Protein Fused in Sarcoma (FUS) Functions Downstream of Poly(ADP-ribose) Polymerase (PARP) in Response to DNA Damage

(2013) Adam S. Mastrocola et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

(2013) Fernando Bartolome et al.   NEURON

VCP Is Essential for Mitochondrial Quality Control by PINK1/Parkin and this Function Is Impaired by VCP Mutations

(2013) Nam Chul Kim et al.   NEURON

Development and Validation of Pedigree Classification Criteria for Frontotemporal Lobar Degeneration

(2013) Elisabeth M. Wood et al.   JAMA Neurology

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

(2012) SG Mehta et al.   CLINICAL GENETICS

Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes

(2012) Stéphanie Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

(2012) P. Corcia et al.   NEUROLOGY

The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology

(2012) Angèle Nalbandian et al.   PLoS One

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Progranulin axis and recent developments in frontotemporal lobar degeneration

(2012) Alexandra M Nicholson et al.   Alzheimers Research & Therapy

The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene

(2011) Julie S. Snowden et al.   ACTA NEUROPATHOLOGICA

Neuropathological background of phenotypical variability in frontotemporal dementia

(2011) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Recent advances in p97/VCP/Cdc48 cellular functions

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

Motor Neuron dysfunction in frontotemporal dementia

(2011) James R. Burrell et al.   BRAIN

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

Autophagy: Renovation of Cells and Tissues

(2011) Noboru Mizushima et al.   CELL

The p97 ATPase associates with EEA1 to regulate the size of early endosomes

(2011) Harish N Ramanathan et al.   CELL RESEARCH

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

(2011) Julie Phukan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

(2011) A. Chio et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

(2011) Danilo Ritz et al.   NATURE CELL BIOLOGY

Classification of primary progressive aphasia and its variants

(2011) M. L. Gorno-Tempini et al.   NEUROLOGY

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

(2010) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin

(2010) Atsushi Tanaka et al.   JOURNAL OF CELL BIOLOGY

Cdc48/p97 and Shp1/p47 regulate autophagosome biogenesis in concert with ubiquitin-like Atg8

(2010) Roswitha Krick et al.   JOURNAL OF CELL BIOLOGY

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

TDP-43 Mediates Degeneration in a Novel Drosophila Model of Disease Caused by Mutations in VCP/p97

(2010) G. P. Ritson et al.   JOURNAL OF NEUROSCIENCE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis

(2009) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis

Frontal-lobe mediated behavioral dysfunction in amyotrophic lateral sclerosis

(2009) M. Witgert et al.   EUROPEAN JOURNAL OF NEUROLOGY

VCPMutations Causing Frontotemporal Lobar Degeneration Disrupt Localization of TDP-43 and Induce Cell Death

(2009) Michael A. Gitcho et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rapamycin Rescues TDP-43 Mislocalization and the Associated Low Molecular Mass Neurofilament Instability

(2009) Antonella Caccamo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

(2009) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

(2009) J. van der Zee et al.   NEUROLOGY

Patterns of cortical thinning in the language variants of frontotemporal lobar degeneration

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

ALS motor phenotype heterogeneity, focality, and spread: Deconstructing motor neuron degeneration

(2009) J. M. Ravits et al.   NEUROLOGY

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Alzheimer and frontotemporal pathology in subsets of primary progressive aphasia

(2008) Marsel Mesulam et al.   ANNALS OF NEUROLOGY

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

(2008) C C Weihl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Improved Structures of Full-Length p97, an AAA ATPase: Implications for Mechanisms of Nucleotide-Dependent Conformational Change

(2008) Jason M. Davies et al.   STRUCTURE

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

(2007) Anna Bersano et al.   NEUROBIOLOGY OF AGING