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A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Gonzalez MA, Feely SM, Speziani F, Strickland AV, Danzi M, Bacon C, Lee Y, Chou TF, Blanton SH, Weihl CC, Zuchner S, Shy ME. Gonzalez MA, et al. Among authors: chou tf. Brain. 2014 Nov;137(Pt 11):2897-902. doi: 10.1093/brain/awu224. Epub 2014 Aug 14. Brain. 2014. PMID: 25125609 Free PMC article.
Altered cofactor regulation with disease-associated p97/VCP mutations.
Zhang X, Gui L, Zhang X, Bulfer SL, Sanghez V, Wong DE, Lee Y, Lehmann L, Lee JS, Shih PY, Lin HJ, Iacovino M, Weihl CC, Arkin MR, Wang Y, Chou TF. Zhang X, et al. Among authors: chou tf. Proc Natl Acad Sci U S A. 2015 Apr 7;112(14):E1705-14. doi: 10.1073/pnas.1418820112. Epub 2015 Mar 16. Proc Natl Acad Sci U S A. 2015. PMID: 25775548 Free PMC article.
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
Jerath NU, Crockett CD, Moore SA, Shy ME, Weihl CC, Chou TF, Grider T, Gonzalez MA, Zuchner S, Swenson A. Jerath NU, et al. Among authors: chou tf. Case Rep Genet. 2015;2015:239167. doi: 10.1155/2015/239167. Epub 2015 Mar 23. Case Rep Genet. 2015. PMID: 25878907 Free PMC article.
Neuronal VCP loss of function recapitulates FTLD-TDP pathology.
Wani A, Zhu J, Ulrich JD, Eteleeb A, Sauerbeck AD, Reitz SJ, Arhzaouy K, Ikenaga C, Yuede CM, Pittman SK, Wang F, Li S, Benitez BA, Cruchaga C, Kummer TT, Harari O, Chou TF, Schröder R, Clemen CS, Weihl CC. Wani A, et al. Among authors: chou tf. Cell Rep. 2021 Jul 20;36(3):109399. doi: 10.1016/j.celrep.2021.109399. Cell Rep. 2021. PMID: 34289347 Free PMC article.
177 results