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Results: 1 to 20 of 158

1.

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

Weihl CC, Miller SE, Hanson PI, Pestronk A.

Hum Mol Genet. 2007 Apr 15;16(8):919-28. Epub 2007 Feb 28.

PMID:
17329348
[PubMed - indexed for MEDLINE]
Free Article
2.

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

Custer SK, Neumann M, Lu H, Wright AC, Taylor JP.

Hum Mol Genet. 2010 May 1;19(9):1741-55. doi: 10.1093/hmg/ddq050. Epub 2010 Feb 10.

PMID:
20147319
[PubMed - indexed for MEDLINE]
Free Article
3.

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

Weihl CC, Dalal S, Pestronk A, Hanson PI.

Hum Mol Genet. 2006 Jan 15;15(2):189-99. Epub 2005 Dec 1.

PMID:
16321991
[PubMed - indexed for MEDLINE]
Free Article
4.

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

Weihl CC, Pestronk A, Kimonis VE.

Neuromuscul Disord. 2009 May;19(5):308-15. doi: 10.1016/j.nmd.2009.01.009. Epub 2009 Apr 19. Review.

PMID:
19380227
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.

Ching JK, Elizabeth SV, Ju JS, Lusk C, Pittman SK, Weihl CC.

Hum Mol Genet. 2013 Mar 15;22(6):1167-79. doi: 10.1093/hmg/dds524. Epub 2012 Dec 18.

PMID:
23250913
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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

Tresse E, Salomons FA, Vesa J, Bott LC, Kimonis V, Yao TP, Dantuma NP, Taylor JP.

Autophagy. 2010 Feb;6(2):217-27. Epub 2010 Feb 22.

PMID:
20104022
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation.

Bersano A, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio E, Moggio M, Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y, Carpo M, Bresolin N, Comi GP, Corti S.

Neurobiol Aging. 2009 May;30(5):752-8. Epub 2007 Sep 24.

PMID:
17889967
[PubMed - indexed for MEDLINE]
8.

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

Guinto JB, Ritson GP, Taylor JP, Forman MS.

Acta Neuropathol. 2007 Jul;114(1):55-61. Epub 2007 Apr 25. Review.

PMID:
17457594
[PubMed - indexed for MEDLINE]
9.

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

Ju JS, Weihl CC.

Hum Mol Genet. 2010 Apr 15;19(R1):R38-45. doi: 10.1093/hmg/ddq157. Epub 2010 Apr 21. Review.

PMID:
20410287
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Pathological consequences of VCP mutations on human striated muscle.

Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R.

Brain. 2007 Feb;130(Pt 2):381-93. Epub 2006 Sep 19.

PMID:
16984901
[PubMed - indexed for MEDLINE]
Free Article
11.

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

Ju JS, Fuentealba RA, Miller SE, Jackson E, Piwnica-Worms D, Baloh RH, Weihl CC.

J Cell Biol. 2009 Dec 14;187(6):875-88. doi: 10.1083/jcb.200908115.

PMID:
20008565
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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

Neumann M, Mackenzie IR, Cairns NJ, Boyer PJ, Markesbery WR, Smith CD, Taylor JP, Kretzschmar HA, Kimonis VE, Forman MS.

J Neuropathol Exp Neurol. 2007 Feb;66(2):152-7.

PMID:
17279000
[PubMed - indexed for MEDLINE]
13.

The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology.

Nalbandian A, Llewellyn KJ, Kitazawa M, Yin HZ, Badadani M, Khanlou N, Edwards R, Nguyen C, Mukherjee J, Mozaffar T, Watts G, Weiss J, Kimonis VE.

PLoS One. 2012;7(9):e46308. doi: 10.1371/journal.pone.0046308. Epub 2012 Sep 28.

PMID:
23029473
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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

Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis VE.

J Mol Neurosci. 2011 Nov;45(3):522-31. doi: 10.1007/s12031-011-9627-y. Epub 2011 Sep 3. Review.

PMID:
21892620
[PubMed - indexed for MEDLINE]
15.
16.

Pathogenic VCP/TER94 alleles are dominant actives and contribute to neurodegeneration by altering cellular ATP level in a Drosophila IBMPFD model.

Chang YC, Hung WT, Chang YC, Chang HC, Wu CL, Chiang AS, Jackson GR, Sang TK.

PLoS Genet. 2011 Feb 3;7(2):e1001288. doi: 10.1371/journal.pgen.1001288.

PMID:
21304887
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization.

Erzurumlu Y, Kose FA, Gozen O, Gozuacik D, Toth EA, Ballar P.

Int J Biochem Cell Biol. 2013 Apr;45(4):773-82. doi: 10.1016/j.biocel.2013.01.006. Epub 2013 Jan 16.

PMID:
23333620
[PubMed - indexed for MEDLINE]
18.

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

Nalbandian A, Llewellyn KJ, Badadani M, Yin HZ, Nguyen C, Katheria V, Watts G, Mukherjee J, Vesa J, Caiozzo V, Mozaffar T, Weiss JH, Kimonis VE.

Muscle Nerve. 2013 Feb;47(2):260-70. doi: 10.1002/mus.23522. Epub 2012 Nov 21.

PMID:
23169451
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Neuronal-specific overexpression of a mutant valosin-containing protein associated with IBMPFD promotes aberrant ubiquitin and TDP-43 accumulation and cognitive dysfunction in transgenic mice.

Rodriguez-Ortiz CJ, Hoshino H, Cheng D, Liu-Yescevitz L, Blurton-Jones M, Wolozin B, LaFerla FM, Kitazawa M.

Am J Pathol. 2013 Aug;183(2):504-15. doi: 10.1016/j.ajpath.2013.04.014. Epub 2013 Jun 5.

PMID:
23747512
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE.

Clin Genet. 2007 Nov;72(5):420-6.

PMID:
17935506
[PubMed - indexed for MEDLINE]

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