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Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload

Hongyu Li; Qingwen Ma; Yan Xue; Linlin Cai; Liwen Bao; Lei Hong; Yitao Zeng; Shu-Zhen Huang; Richard H. Finnell; Fanyi Zeng
Science China Life Sciences · Vol. 68, Issue 2 · pp. 484-501 · 2025
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Bibliographic Information

JournalScience China Life Sciences
PublisherSpringer
Publication Date2025-02-01
Publication Year2025
Volume68
Issue2
Pages484-501
Document TypeJournal Article
Print ISSN1674-7305
eISSN1869-1889
DOI10.1007/s11427-023-2549-2

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NARA Access Coverage1997-01-01~Current
Journal Homepagehttps://www.springer.com/journal/11427
Publisher PageOpen Publisher Page
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