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MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.
Brown AS, Meera P, Altindag B, Chopra R, Perkins EM, Paul S, Scoles DR, Tarapore E, Magri J, Huang H, Jackson M, Shakkottai VG, Otis TS, Pulst SM, Atwood SX, Oro AE. Brown AS, et al. Among authors: huang h. Proc Natl Acad Sci U S A. 2018 Dec 26;115(52):E12407-E12416. doi: 10.1073/pnas.1816177115. Epub 2018 Dec 7. Proc Natl Acad Sci U S A. 2018. PMID: 30530649 Free PMC article.
Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7.
Stoyas CA, Bushart DD, Switonski PM, Ward JM, Alaghatta A, Tang MB, Niu C, Wadhwa M, Huang H, Savchenko A, Gariani K, Xie F, Delaney JR, Gaasterland T, Auwerx J, Shakkottai VG, La Spada AR. Stoyas CA, et al. Among authors: huang h. Neuron. 2020 Feb 19;105(4):630-644.e9. doi: 10.1016/j.neuron.2019.11.019. Epub 2019 Dec 16. Neuron. 2020. PMID: 31859031 Free PMC article.
Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.
Chopra R, Bushart DD, Cooper JP, Yellajoshyula D, Morrison LM, Huang H, Handler HP, Man LJ, Dansithong W, Scoles DR, Pulst SM, Orr HT, Shakkottai VG. Chopra R, et al. Among authors: huang h. Hum Mol Genet. 2020 Nov 25;29(19):3249-3265. doi: 10.1093/hmg/ddaa212. Hum Mol Genet. 2020. PMID: 32964235 Free PMC article.
Increased intrinsic membrane excitability is associated with hypertrophic olivary degeneration in spinocerebellar ataxia type 1.
Morrison LM, Huang H, Handler HP, Fu M, Bushart DD, Pappas SS, Orr HT, Shakkottai VG. Morrison LM, et al. Among authors: huang h. bioRxiv [Preprint]. 2023 Oct 23:2023.10.23.563657. doi: 10.1101/2023.10.23.563657. bioRxiv. 2023. Update in: Hum Mol Genet. 2024 Dec 6;33(24):2159-2176. doi: 10.1093/hmg/ddae146 PMID: 37961407 Free PMC article. Updated. Preprint.
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