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NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. Jennings MJ, et al. Brain. 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. Brain. 2022. PMID: 35148379 Free PMC article.
The severity of neuropathy in the patients was assessed by the CMT Neuropathy Examination Score (CMTES). We performed multitargeted proteomics on both sample sets to identify proteins elevated across multiple mouse models and CMT patients. ...
The severity of neuropathy in the patients was assessed by the CMT Neuropathy Examination Score (CMTES). We performed multitargeted p …
HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D).
Smith AST, Kim JH, Chun C, Gharai A, Moon HW, Kim EY, Nam SH, Ha N, Song JY, Chung KW, Doo HM, Hesson J, Mathieu J, Bothwell M, Choi BO, Kim DH. Smith AST, et al. Adv Biol (Weinh). 2022 Feb;6(2):e2101308. doi: 10.1002/adbi.202101308. Epub 2021 Dec 26. Adv Biol (Weinh). 2022. PMID: 34958183 Free PMC article.
Charcot-Marie-Tooth disease type 2D (CMT2D), is a hereditary peripheral neuropathy caused by mutations in the gene encoding glycyl-tRNA synthetase (GARS1). Here, human induced pluripotent stem cell (hiPSC)-based models of CMT2D bearing mu …
Charcot-Marie-Tooth disease type 2D (CMT2D), is a hereditary peripheral neuropathy caused by mutat …
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW. Motley WW, et al. PLoS Genet. 2011 Dec;7(12):e1002399. doi: 10.1371/journal.pgen.1002399. Epub 2011 Dec 1. PLoS Genet. 2011. PMID: 22144914 Free PMC article.
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused by missense mutations in the glycyl-tRNA synthetase gene (GARS). ...We conclude that, although missense mutations of Gars may cause some lo …
Charcot-Marie-Tooth disease type 2D (CMT2D) is a dominantly inherited peripheral neuropathy caused …
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.
Mo Z, Zhao X, Liu H, Hu Q, Chen XQ, Pham J, Wei N, Liu Z, Zhou J, Burgess RW, Pfaff SL, Caskey CT, Wu C, Bai G, Yang XL. Mo Z, et al. Nat Commun. 2018 Mar 8;9(1):1007. doi: 10.1038/s41467-018-03461-z. Nat Commun. 2018. PMID: 29520015 Free PMC article.
A decrease in alpha-tubulin acetylation and deficits in axonal transport are observed in mice peripheral nerves prior to disease onset. An HDAC6 inhibitor used to restore alpha-tubulin acetylation rescues axonal transport deficits and improves motor functions of CMT2D mice …
A decrease in alpha-tubulin acetylation and deficits in axonal transport are observed in mice peripheral nerves prior to disease onse …
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15.
Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb LG. Sambuughin N, et al. J Neurol Sci. 1998 Nov 26;161(1):23-8. doi: 10.1016/s0022-510x(98)00264-0. J Neurol Sci. 1998. PMID: 9879677
Two separate disorders, autosomal dominant distal spinal muscular atrophy type V (dSMA-V) characterized by marked bilateral weakness in the hands and atrophy of thenar eminence and the first interosseous muscle, and Charcot-Marie-Tooth disease type …
Two separate disorders, autosomal dominant distal spinal muscular atrophy type V (dSMA-V) characterized by marked bilateral weakness in the …