| 1 | IBMPFD, VCP
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| P97/VCP ATPase inhibitors can rescue p97 mutation-linked motor neuron degeneration.
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| Wang F, Li S, Wang TY, Lopez GA, Antoshechkin I, Chou TF.
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| Brain Commun. Jul 6;4(4):fcac176. doi: 10.1093/braincomms/fcac176. eCollection 2022. 2022
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| 2 | IBMPFD, VCP
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| A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.
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| 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.
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| Bone 52(1):9-16. doi: 10.1016/j.bone.2012.09.012. Epub 2012 Sep 19.
2013
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| 3 | IBMPFD, VCP
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| Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
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| Mehta SG, Khare M, Ramani R, Watts GD, Simon M, Osann KE, Donkervoort S, Dec E, Nalbandian A, Platt J, Pasquali M, Wang A, Mozaffar T, Smith CD, Kimonis VE.
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| Clin Genet 83(5):422-31. doi: 10.1111/cge.12000. Epub 2012 Oct 4.
2013
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| 4 | IBMPFD, VCP
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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.
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| Halawani D, LeBlanc AC, Rouiller I, Michnick SW, Servant MJ, Latterich M.
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| Mol Cell Biol 29(16):4484-94. Epub 2009 Jun 8.PMID: 19506019 2009
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| 5 | VCP, IBMPFD
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| Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia.
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| Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD.
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| Am J Med Genet A 146(6):745-57. 2008
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| 6 | VCP, IBMPFD
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| APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).
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| Mehta SG, Watts GD, Adamson JL, Hutton M, Umberger G, Xiong S, Ramdeen S, Lovell MA, Kimonis VE, Smith CD.
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| Genet Med 9(1):9-13. 2007
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| 7 | VCP, IBMPFD
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| Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
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| Watts GD, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE.
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| Clin Genet 72(5):420-6. 2007
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| 8 | IBMPFD, VCP
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| Pathological consequences of VCP mutations on human striated muscle.
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| 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.
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| Brain 130(Pt 2):381-93. Epub 2006 Sep 19.
2007
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| 9 | IBMPFD, VCP
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| Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations.
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| Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, Tu PH, Watts GD, Markesbery WR, Smith CD, Kimonis VE.
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| J Neuropathol Exp Neurol 65(6):571-81.
2006
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| 10 | VCP, IBMPFD
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| Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation.
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| Weihl CC, Dalal S, Pestronk A, Hanson PI.
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| Hum Mol Genet 15(2):189-99. Epub 2005 Dec 1. 2006
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| 11 | VCP, IBMPFD
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| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
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| Watts GD, Wymer J, Kovach MJ, Mehta SG, Mumm S, Darvish D, Pestronk A, Whyte MP, Kimonis VE.
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| Nat Genet 36(4):377-81. Epub 2004 Mar 21. 2004
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