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Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation.
Matsumoto N, Watanabe N, Iibe N, Tatsumi Y, Hattori K, Takeuchi Y, Oizumi H, Ohbuchi K, Torii T, Miyamoto Y, Yamauchi J. Matsumoto N, et al. Among authors: takeuchi y. 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.
Defective neuronal and oligodendroglial differentiation by FTD3- and ALS17-associated Ile29-to-Val mutation of CHMP2B.
Yamawaki M, Akiba M, Matsumoto N, Watanabe N, Hattori K, Takeuchi Y, Morimoto T, Oizumi H, Ohbuchi K, Miyamoto Y, Yamauchi J. Yamawaki M, et al. Among authors: takeuchi y. Mol Genet Metab Rep. 2019 Feb 2;19:100458. doi: 10.1016/j.ymgmr.2019.100458. eCollection 2019 Jun. Mol Genet Metab Rep. 2019. PMID: 30766798 Free PMC article. No abstract available.
4,030 results