(Q33871338)

29 July 2017

1 reference

title

Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy (English)

1 reference

29 July 2017

0 references

1 reference

1

Jeong-Sun Ju

1 reference

29 July 2017

2

Conrad C Weihl

1 reference

29 July 2017

publication date

21 April 2010

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29 July 2017

published in

Human Molecular Genetics

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29 July 2017

volume

19

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29 July 2017

issue

R1

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29 July 2017

page(s)

R38-45

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

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin-proteasome system.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Rapamycin rescues TDP-43 mislocalization and the associated low molecular mass neurofilament instability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Hereditary inclusion body myopathy-linked p97/VCP mutations in the NH2 domain and the D1 ring modulate p97/VCP ATPase activity and D2 ring conformation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

A role for ubiquitin in selective autophagy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

p97/valosin-containing protein (VCP) is highly modulated by phosphorylation and acetylation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Autophagy is an adaptive response in desmin-related cardiomyopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Structural basis for sorting mechanism of p62 in selective autophagy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Structural insights into the p97-Ufd1-Npl4 complex.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

The roles of intracellular protein-degradation pathways in neurodegeneration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Pathological consequences of VCP mutations on human striated muscle.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

HDAC6-p97/VCP controlled polyubiquitin chain turnover

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

p97: The cell's molecular purgatory?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Central pore residues mediate the p97/VCP activity required for ERAD

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Loss of autophagy in the central nervous system causes neurodegeneration in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Sequestosome 1/p62 shuttles polyubiquitinated tau for proteasomal degradation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

The p95-100 kDa ligand of the T cell-specific adaptor (TSAd) protein Src-homology-2 (SH2) domain implicated in TSAd nuclear import is p97 Valosin-containing protein (VCP).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

p97 and close encounters of every kind: a brief review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

The deacetylase HDAC6 regulates aggresome formation and cell viability in response to misfolded protein stress

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Distinct roles for the AAA ATPases NSF and p97 in the secretory pathway

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Autophagic vacuolar myopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Hexamerization of p97-VCP is promoted by ATP binding to the D1 domain and required for ATPase and biological activities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

AAA-ATPase p97/Cdc48p, a cytosolic chaperone required for endoplasmic reticulum-associated protein degradation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Membrane traffic: what drives the AAA motor?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Phosphorylation of p97(VCP) and p47 in vitro by p34cdc2 kinase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Aggresomes: a cellular response to misfolded proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Involvement of valosin-containing protein, an ATPase Co-purified with IkappaBalpha and 26 S proteasome, in ubiquitin-proteasome-mediated degradation of IkappaBalpha

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

Analysis of the two p97/VCP/Cdc48p proteins of Caenorhabditis elegans and their suppression of polyglutamine-induced protein aggregation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

D1 ring is stable and nucleotide-independent, whereas D2 ring undergoes major conformational changes during the ATPase cycle of p97-VCP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

Vacuole-creating protein in neurodegenerative diseases in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

Involvement of valosin-containing protein (VCP)/p97 in the formation and clearance of abnormal protein aggregates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

Autophagy is required to maintain muscle mass.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

Akt-mediated valosin-containing protein 97 phosphorylation regulates its association with ubiquitinated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ157

TDP-43-positive white matter pathology in frontotemporal lobar degeneration with ubiquitin-positive inclusions.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875057

Identification of the regions of porcine VCP preventing its function in Saccharomyces cerevisiae

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20410287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20410287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Going through the motions: The ATPase cycle of p97

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20410287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDQ157

1 reference

29 July 2017

1 reference

29 July 2017

1 reference