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

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10 February 2018

2

Manuela Neumann

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10 February 2018

Sara K Custer

1

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10 February 2018

Hongbo Lu

series ordinal

3

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10 February 2018

Alexander C Wright

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4

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10 February 2018

J Paul Taylor

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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

issue

9

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10 February 2018

page(s)

1741-1755

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

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

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

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

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

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

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

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

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

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

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Protein quality control gets muscle into shape

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

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

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

21 January 2018

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

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21 January 2018

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

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

21 January 2018

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p97: The cell's molecular purgatory?

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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NF-kappaB functions in osteoclasts

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

21 January 2018

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Nucleotide dependent motion and mechanism of action of p97/VCP

21 January 2018

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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

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beta-TrCP mediates the signal-induced ubiquitination of IkappaBbeta

21 January 2018

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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

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDQ050

1 reference

10 February 2018

PubMed ID

20147319

1 reference

10 February 2018