期刊
EMBO MOLECULAR MEDICINE
卷 11, 期 5, 页码 -出版社
WILEY
DOI: 10.15252/emmm.201910441
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资金
- Deutsche Forschungsgemeinschaft (DFG) [SFB1218, TP B02, RI2150/1-2]
Mitochondrial dysfunction is linked to various human diseases. Symptoms can occur early in life or manifest progressively during life and include poor muscle coordination or weakness, neurological or developmental problems, or immunodeficiency (Lightowlers et al, 2015). Most mitochondrial diseases are caused by mutations in genes encoding mitochondrial proteins. Mutations can affect protein functions in many ways; they can not only impair enzymatic activities, but also lower protein stability, hamper assembly into multimeric protein complexes, or abrogate protein transport into mitochondria. Understanding the impact of mutations on protein function is crucial to understand pathophysiological mechanisms of mitochondrial diseases and to develop therapeutic approaches.
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