https://scholars.lib.ntu.edu.tw/handle/123456789/525821
標題: | Management of Leigh syndrome: Current status and new insights | 作者: | Chen L. Cui Y. Jiang D. Ma C.Y. Tse H.-F. WUH-LIANG HWU Lian Q. |
關鍵字: | genetics; Leigh syndrome; neurology; therapy and pre-clinical research | 公開日期: | 2018 | 出版社: | Blackwell Publishing Ltd | 卷: | 93 | 期: | 6 | 起(迄)頁: | 1131-1140 | 來源出版物: | Clinical Genetics | 摘要: | Leigh syndrome (LS) is an inherited mitochondrial encephalopathy associated with gene mutations of oxidative phosphorylation pathway that result in early disability and death in affected young children. Currently, LS is incurable and unresponsive to many treatments, although some case reports indicate that supplements can improve the condition. Many novel therapies are being continuously tested in pre-clinical studies. In this review, we summarize the genetic basis of LS, current treatment, pre-clinical studies in animal models and the management of other mitochondrial diseases. Future therapeutical strategies and challenges are also discussed. ? 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85041744347&doi=10.1111%2fcge.13139&partnerID=40&md5=fb3bb7add040b8a8090457dc542759a0 https://scholars.lib.ntu.edu.tw/handle/123456789/525821 |
ISSN: | 0009-9163 | DOI: | 10.1111/cge.13139 | SDG/關鍵字: | dichloroacetic acid; pyruvic acid; rapamycin; ubidecarenone; vitamin; Adeno associated virus; exercise; heredity; human; hypoxia; ketogenic diet; Leigh disease; metabolic regulation; mitochondrial biogenesis; nonhuman; preclinical study; priority journal; Review; viral gene therapy; disorders of mitochondrial functions; genetic predisposition; genetics; Leigh disease; medical research; metabolism; mitochondrion; Biomedical Research; Genetic Predisposition to Disease; Humans; Leigh Disease; Mitochondria; Mitochondrial Diseases |
顯示於: | 醫學系 |
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