Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein (Q29619232)

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30 April 2017

main subject

dementia

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frontotemporal dementia

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8

Whyte MP

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5

Mumm S

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author name string

Watts GD

1

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Wymer J

2

1 reference

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Kovach MJ

3

1 reference

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Mehta SG

4

1 reference

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Darvish D

6

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Pestronk A

7

1 reference

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Kimonis VE

9

1 reference

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language of work or name

1 reference

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publication date

April 2004

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volume

36

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page(s)

377-81

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issue

4

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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 April 2017

cites work

1 reference

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

21 January 2018

1 reference

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

21 January 2018

1 reference

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

21 January 2018

1 reference

Sequence analysis of the AAA protein family

21 January 2018

1 reference

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

21 January 2018

1 reference

Mobilization of processed, membrane-tethered SPT23 transcription factor by CDC48(UFD1/NPL4), a ubiquitin-selective chaperone

21 January 2018

1 reference

Structure of the AAA ATPase p97

21 January 2018

1 reference

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

21 January 2018

1 reference

Distinct AAA-ATPase p97 complexes function in discrete steps of nuclear assembly.

21 January 2018

1 reference

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

21 January 2018

1 reference

Syntaxin 5 is a common component of the NSF- and p97-mediated reassembly pathways of Golgi cisternae from mitotic Golgi fragments in vitro

21 January 2018

1 reference

p47 is a cofactor for p97-mediated membrane fusion

21 January 2018

1 reference

A complex of mammalian ufd1 and npl4 links the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways

21 January 2018

1 reference

Protein dislocation from the endoplasmic reticulum--pulling out the suspect

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration.

21 January 2018

1 reference

The ubiquitin protein catabolic disorders.

21 January 2018

1 reference

Hassles with taking out the garbage: aggravating aggresomes.

21 January 2018

1 reference

Ubiquitin-mediated sequestration of normal cellular proteins into polyglutamine aggregates

21 January 2018

1 reference

Protein aggregation in motor neurone disorders.

21 January 2018

1 reference

SVIP is a novel VCP/p97-interacting protein whose expression causes cell vacuolation

21 January 2018

1 reference

Vacuole-creating protein in neurodegenerative diseases in humans.

21 January 2018

1 reference

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

21 January 2018

1 reference

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

2 references

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30 April 2017

Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

39048

1041421858

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39048

1 reference

Consolidated OpenCitations Corpus – April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=15034582

2 references

30 April 2017

Consolidated OpenCitations Corpus – April 2017