(Q48312639)

10 February 2018

title

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

1 reference

10 February 2018

2

Manuela Neumann

1 reference

10 February 2018

Sara K Custer

1

1 reference

10 February 2018

Hongbo Lu

series ordinal

3

1 reference

10 February 2018

Alexander C Wright

series ordinal

4

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10 February 2018

J Paul Taylor

series ordinal

5

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10 February 2018

publication date

10 February 2010

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10 February 2018

published in

Human Molecular Genetics

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10 February 2018

volume

19

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10 February 2018

page(s)

1741-1755

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10 February 2018

issue

9

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10 February 2018

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

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1 reference

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An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene.

21 January 2018

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Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.

21 January 2018

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A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia

21 January 2018

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

21 January 2018

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

21 January 2018

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Roles of VCP in human neurodegenerative disorders

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy

21 January 2018

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Ectopic Bone Formation by Human Bone Morphogenetic Protein-2 Gene Transfer to Skeletal Muscle Using Transcutaneous Electroporation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Decreased food intake and body weight in pancreatic polypeptide-overexpressing mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Transgene overexpression of alphaB crystallin confers simultaneous protection against cardiomyocyte apoptosis and necrosis during myocardial ischemia and reperfusion

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Transgenic mice expressing mutated full-length HD cDNA: a paradigm for locomotor changes and selective neuronal loss in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Inclusion body myositis: old and new concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

1 reference

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Protein quality control gets muscle into shape

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

The myosin co-chaperone UNC-45 is required for skeletal and cardiac muscle function in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Exploratory activity and spatial learning in 12-month-old APP(695)SWE/co+PS1/DeltaE9 mice with amyloid plaques.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Behavior and mutagenesis screens: the importance of baseline analysis of inbred strains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Parkinsonism and impaired axonal transport in a mouse model of frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Tau-4R suppresses proliferation and promotes neuronal differentiation in the hippocampus of tau knockin/knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Behavioral phenotypes of inbred mouse strains: implications and recommendations for molecular studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

p97: The cell's molecular purgatory?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

VCP (p97) regulates NFkappaB signaling pathway, which is important for metastasis of osteosarcoma cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

The valosin-containing protein (VCP) is a target of Akt signaling required for cell survival.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

NF-kappaB functions in osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Skeletal muscle diseases, inflammation, and NF-kappaB signaling: insights and opportunities for therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

IKKbeta/NF-kappaB activation causes severe muscle wasting in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Nucleotide dependent motion and mechanism of action of p97/VCP

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

beta-TrCP mediates the signal-induced ubiquitination of IkappaBbeta

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

IkappaBalpha ubiquitination is catalyzed by an SCF-like complex containing Skp1, cullin-1, and two F-box/WD40-repeat proteins, betaTrCP1 and betaTrCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ050

21 January 2018

Identifiers

DOI

10.1093/HMG/DDQ050

1 reference

10 February 2018

PubMed ID

20147319

1 reference

10 February 2018