A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/ ) mouse (Q36565507)

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18 February 2020

title

A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/ ) mouse (English)

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18 February 2020

8

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13

Virginia E Kimonis

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18 February 2020

author name string

Angèle Nalbandian

1

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18 February 2020

Katrina J Llewellyn

2

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18 February 2020

Mallikarjun Badadani

3

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18 February 2020

Hong Z Yin

4

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18 February 2020

Christopher Nguyen

5

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18 February 2020

Veeral Katheria

6

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18 February 2020

Giles Watts

7

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18 February 2020

Jouni Vesa

9

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18 February 2020

Vincent Caiozzo

10

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18 February 2020

Tahseen Mozaffar

11

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18 February 2020

John H Weiss

12

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18 February 2020

publication date

21 November 2012

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18 February 2020

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18 February 2020

volume

47

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18 February 2020

issue

2

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18 February 2020

page(s)

260-270

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Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis

18 February 2020

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The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

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Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

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Exome sequencing reveals VCP mutations as a cause of familial ALS

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VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

30 September 2017

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A novel ATP-dependent conformation in p97 N–D1 fragment revealed by crystal structures of disease-related mutants

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

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Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts

30 September 2017

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Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

30 September 2017

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VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

30 September 2017

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Does autophagy have a license to kill mammalian cells?

30 September 2017

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To die or not to die: that is the autophagic question

30 September 2017

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Roles of VCP in human neurodegenerative disorders

30 September 2017

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The role of autophagy in aging: its essential part in the anti-aging mechanism of caloric restriction

30 September 2017

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The spine in Paget's disease

30 September 2017

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Maturation of autophagic vacuoles in Mammalian cells

30 September 2017

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Management of Paget's disease of bone

30 September 2017

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

30 September 2017

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Complete structure of p97/valosin-containing protein reveals communication between nucleotide domains

30 September 2017

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30 September 2017

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Functional ATPase activity of p97/valosin-containing protein (VCP) is required for the quality control of endoplasmic reticulum in neuronally differentiated mammalian PC12 cells

30 September 2017

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Cdc48-Ufd1-Npl4: stuck in the middle with Ub.

30 September 2017

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Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

30 September 2017

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The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol

30 September 2017

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Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin-proteasome degradation

30 September 2017

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Loss of brain tau defines novel sporadic and familial tauopathies with frontotemporal dementia

30 September 2017

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Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

30 September 2017

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Synergistic roles for Pim-1 and c-Myc in STAT3-mediated cell cycle progression and antiapoptosis.

30 September 2017

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Identification of TER94, an AAA ATPase protein, as a Bam-dependent component of the Drosophila fusome

30 September 2017

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The mouse p97 (CDC48) gene. Genomic structure, definition of transcriptional regulatory sequences, gene expression, and characterization of a pseudogene

30 September 2017

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Clinical, neuroimaging, and pathologic features of progressive nonfluent aphasia

30 September 2017

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

30 September 2017

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Pathological consequences of VCP mutations on human striated muscle

28 June 2018

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Yeast cell cycle protein CDC48p shows full-length homology to the mammalian protein VCP and is a member of a protein family involved in secretion, peroxisome formation, and gene expression

28 June 2018

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Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis

28 June 2018

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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

21 September 2018

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Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

21 September 2018

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Radiological features of Paget disease of bone associated with VCP myopathy

21 September 2018

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A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

21 September 2018

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

21 September 2018

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

21 September 2018

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Transgenic expression of inclusion body myopathy associated mutant p97/VCP causes weakness and ubiquitinated protein inclusions in mice

21 September 2018

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TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations

21 September 2018

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Targeted deletion of p97 (VCP/CDC48) in mouse results in early embryonic lethality.

21 September 2018

1 reference

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F-18 FDG PET/CT imaging of extramammary Paget disease of the perianal region

21 September 2018

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Valosin-containing protein gene mutations: clinical and neuropathologic features

21 September 2018

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LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling.

21 September 2018

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Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

21 September 2018

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PET/CT imaging of metastatic deposit in vertebral Paget's disease.

21 September 2018

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RNA interference of valosin-containing protein (VCP/p97) reveals multiple cellular roles linked to ubiquitin/proteasome-dependent proteolysis

21 September 2018

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Cdc48p is required for the cell cycle commitment point at Start via degradation of the G1-CDK inhibitor Far1p

21 September 2018

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Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes

21 September 2018

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Vacuole-creating protein in neurodegenerative diseases in humans

21 September 2018

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VCP/p97 in abnormal protein aggregates, cytoplasmic vacuoles, and cell death, phenotypes relevant to neurodegeneration

21 September 2018

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Functional analysis of the trypanosomal AAA protein TbVCP with trans-dominant ATP hydrolysis mutants

21 September 2018

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Quantitative neurohistological features of frontotemporal degeneration

21 September 2018

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Skeletal distribution and biochemical parameters of Paget's disease

21 September 2018

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12 December 2020

Low back pain in Paget's disease of bone

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12 December 2020

Quantification of skeletal kinetic indices in Paget's disease using dynamic 18F-fluoride positron emission tomography

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12 December 2020

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

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12 December 2020

A series of ubiquitin binding factors connects CDC48/p97 to substrate multiubiquitylation and proteasomal targeting

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12 December 2020

Motor neuron disease: focusing the mind on ALS: updated practice parameters

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12 December 2020

Identifiers

DOI

10.1002/MUS.23522

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23169451 AND SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23169451 AND SRC:MED&resulttype=core&format=json

18 February 2020

PubMed publication ID

23169451

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23169451 AND SRC:MED&resulttype=core&format=json