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An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM. Achilli F, et al. Among authors: cader mz. Dis Model Mech. 2009 Jul-Aug;2(7-8):359-73. doi: 10.1242/dmm.002527. Epub 2009 May 26. Dis Model Mech. 2009. PMID: 19470612 Free PMC article.
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.
Sleigh JN, Dawes JM, West SJ, Wei N, Spaulding EL, Gómez-Martín A, Zhang Q, Burgess RW, Cader MZ, Talbot K, Yang XL, Bennett DL, Schiavo G. Sleigh JN, et al. Among authors: cader mz. Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3324-E3333. doi: 10.1073/pnas.1614557114. Epub 2017 Mar 28. Proc Natl Acad Sci U S A. 2017. PMID: 28351971 Free PMC article.
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease.
Benoy V, Van Helleputte L, Prior R, d'Ydewalle C, Haeck W, Geens N, Scheveneels W, Schevenels B, Cader MZ, Talbot K, Kozikowski AP, Vanden Berghe P, Van Damme P, Robberecht W, Van Den Bosch L. Benoy V, et al. Among authors: cader mz. Brain. 2018 Mar 1;141(3):673-687. doi: 10.1093/brain/awx375. Brain. 2018. PMID: 29415205 Free PMC article.
85 results