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Items: 1 to 20 of 92

1.

Global gene profiling of VCP-associated inclusion body myopathy.

Nalbandian A, Ghimbovschi S, Radom-Aizik S, Dec E, Vesa J, Martin B, Knoblach S, Smith C, Hoffman E, Kimonis VE.

Clin Transl Sci. 2012 Jun;5(3):226-34. doi: 10.1111/j.1752-8062.2012.00407.x. Epub 2012 Apr 4.

2.

Global gene expression profiling in R155H knock-in murine model of VCP disease.

Nalbandian A, Ghimbovschi S, Wang Z, Knoblach S, Llewellyn KJ, Vesa J, Hoffman EP, Kimonis VE.

Clin Transl Sci. 2015 Feb;8(1):8-16. doi: 10.1111/cts.12241. Epub 2014 Nov 12.

3.

A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.

Gu JM, Ke YH, Yue H, Liu YJ, Zhang Z, Zhang H, Hu WW, Wang C, He JW, Hu YQ, Li M, Fu WZ, Zhang ZL.

Bone. 2013 Jan;52(1):9-16. doi: 10.1016/j.bone.2012.09.012. Epub 2012 Sep 19.

PMID:
23000505
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.

PMID:
20147319
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.

PMID:
17329348
7.

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.

8.

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.

9.

Nucleocytoplasmic shuttling of valosin-containing protein (VCP/p97) regulated by its N domain and C-terminal region.

Song C, Wang Q, Song C, Lockett SJ, Colburn NH, Li CC, Wang JM, Rogers TJ.

Biochim Biophys Acta. 2015 Jan;1853(1):222-32. doi: 10.1016/j.bbamcr.2014.10.019. Epub 2014 Oct 30.

10.

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
11.

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.

12.

[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
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.

14.

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.

15.

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
16.

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

Djamshidian A, Schaefer J, Haubenberger D, Stogmann E, Zimprich F, Auff E, Zimprich A.

Muscle Nerve. 2009 Mar;39(3):389-91. doi: 10.1002/mus.21225.

PMID:
19208399
18.

Characterization of the Asian myopathy patients with VCP mutations.

Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I.

Eur J Neurol. 2012 Mar;19(3):501-9. doi: 10.1111/j.1468-1331.2011.03575.x. Epub 2011 Oct 31.

PMID:
22040362
19.

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.

20.

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

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