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Items: 1 to 20 of 149

1.

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts.

Vesa J, Su H, Watts GD, Krause S, Walter MC, Martin B, Smith C, Wallace DC, Kimonis VE.

Neuromuscul Disord. 2009 Nov;19(11):766-72. doi: 10.1016/j.nmd.2009.08.003. Epub 2009 Oct 13.

2.

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.

3.

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
4.

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.

5.

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.

6.

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.

7.

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
8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

[Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia].

Hayashi Y.

Rinsho Shinkeigaku. 2013;53(11):947-50. Review. Japanese.

PMID:
24291843
15.

Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

Manno A, Noguchi M, Fukushi J, Motohashi Y, Kakizuka A.

Genes Cells. 2010 Aug;15(8):911-22. doi: 10.1111/j.1365-2443.2010.01428.x. Epub 2010 Jul 5.

16.

Phenotypic variability in three families with valosin-containing protein mutation.

Spina S, Van Laar AD, Murrell JR, Hamilton RL, Kofler JK, Epperson F, Farlow MR, Lopez OL, Quinlan J, DeKosky ST, Ghetti B.

Eur J Neurol. 2013 Feb;20(2):251-8. doi: 10.1111/j.1468-1331.2012.03831.x. Epub 2012 Aug 20.

17.

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.

18.

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
19.

A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.

Fanganiello RD, Kimonis VE, Côrte CC, Nitrini R, Passos-Bueno MR.

Braz J Med Biol Res. 2011 Apr;44(4):374-80. Epub 2011 Mar 11. Review.

20.

Proteomic analysis of a drosophila IBMPFD model reveals potential pathogenic mechanisms.

Chan HT, Lee TR, Huang SH, Lee HY, Sang TK, Chan HL, Lyu PC.

Mol Biosyst. 2012 Jun;8(6):1730-41. doi: 10.1039/c2mb25037c. Epub 2012 Apr 5.

PMID:
22481368
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