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Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation.
Biochem Biophys Rep. 2019 Nov 7;20:100705. doi: 10.1016/j.bbrep.2019.100705. eCollection 2019 Dec.
Biochem Biophys Rep. 2019.
PMID: 31737794
Free PMC article.
CMT type 2N disease-associated AARS mutant inhibits neurite growth that can be reversed by valproic acid.
Tatsumi Y, Matsumoto N, Iibe N, Watanabe N, Torii T, Sango K, Homma K, Miyamoto Y, Sakagami H, Yamauchi J.
Tatsumi Y, et al. Among authors: iibe n.
Neurosci Res. 2019 Feb;139:69-78. doi: 10.1016/j.neures.2018.09.016. Epub 2018 Sep 24.
Neurosci Res. 2019.
PMID: 30261202
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