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Items: 1 to 20 of 126

1.

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.

2.

IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation.

Bayraktar O, Oral O, Kocaturk NM, Akkoc Y, Eberhart K, Kosar A, Gozuacik D.

PLoS One. 2016 Oct 21;11(10):e0164864. doi: 10.1371/journal.pone.0164864. eCollection 2016. Erratum in: PLoS One. 2016 Nov 18;11(11):e0167192.

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
4.

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
5.

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.

6.

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.

7.

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
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
9.

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
10.

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.

11.

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.

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.

[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
14.

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.

15.

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
16.

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family.

Kim EJ, Park YE, Kim DS, Ahn BY, Kim HS, Chang YH, Kim SJ, Kim HJ, Lee HW, Seeley WW, Kim S.

Arch Neurol. 2011 Jun;68(6):787-96. doi: 10.1001/archneurol.2010.376. Epub 2011 Feb 14.

PMID:
21320982
17.

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

Fanganiello RD, Kimonis VE, CĂ´rte CC, Nitrini R, Passos-Bueno MR.

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

18.

TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97.

Ritson GP, Custer SK, Freibaum BD, Guinto JB, Geffel D, Moore J, Tang W, Winton MJ, Neumann M, Trojanowski JQ, Lee VM, Forman MS, Taylor JP.

J Neurosci. 2010 Jun 2;30(22):7729-39. doi: 10.1523/JNEUROSCI.5894-09.2010.

19.

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
20.

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.

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