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Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Harms MB, et al. Among authors: vallee rb. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459677 Free PMC article.
A cytoplasmic dynein tail mutation impairs motor processivity.
Ori-McKenney KM, Xu J, Gross SP, Vallee RB. Ori-McKenney KM, et al. Among authors: vallee rb. Nat Cell Biol. 2010 Dec;12(12):1228-34. doi: 10.1038/ncb2127. Epub 2010 Nov 21. Nat Cell Biol. 2010. PMID: 21102439 Free PMC article.
Multiple modes of cytoplasmic dynein regulation.
Vallee RB, McKenney RJ, Ori-McKenney KM. Vallee RB, et al. Nat Cell Biol. 2012 Feb 29;14(3):224-30. doi: 10.1038/ncb2420. Nat Cell Biol. 2012. PMID: 22373868
194 results