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The molecular basis of spinocerebellar ataxia type 48 caused by a de novo mutation in the ubiquitin ligase CHIP.
Umano A, Fang K, Qu Z, Scaglione JB, Altinok S, Treadway CJ, Wick ET, Paulakonis E, Karunanayake C, Chou S, Bardakjian TM, Gonzalez-Alegre P, Page RC, Schisler JC, Brown NG, Yan D, Scaglione KM. Umano A, et al. J Biol Chem. 2022 May;298(5):101899. doi: 10.1016/j.jbc.2022.101899. Epub 2022 Apr 7. J Biol Chem. 2022. PMID: 35398354 Free PMC article.