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Article: Management of Leigh syndrome: Current status and new insights

TitleManagement of Leigh syndrome: Current status and new insights
Authors
KeywordsLeigh syndrome
genetics
neurology
therapy and pre-clinical research
Issue Date2018
PublisherWiley-Blackwell Publishing, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004
Citation
Clinical Genetics, 2018 How to Cite?
AbstractLeigh 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.
Persistent Identifierhttp://hdl.handle.net/10722/251864
ISSN
2019 Impact Factor: 3.578
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChen, L-
dc.contributor.authorCui, Y-
dc.contributor.authorJiang, D-
dc.contributor.authorMa, CY-
dc.contributor.authorTse, HF-
dc.contributor.authorHwu, WL-
dc.contributor.authorLian, Q-
dc.date.accessioned2018-03-21T08:04:01Z-
dc.date.available2018-03-21T08:04:01Z-
dc.date.issued2018-
dc.identifier.citationClinical Genetics, 2018-
dc.identifier.issn0009-9163-
dc.identifier.urihttp://hdl.handle.net/10722/251864-
dc.description.abstractLeigh 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.-
dc.languageeng-
dc.publisherWiley-Blackwell Publishing, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004-
dc.relation.ispartofClinical Genetics-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article]. Authors are not required to remove preprints posted prior to acceptance of the submitted version. Postprint This is the accepted version of the following article: [full citation], which has been published in final form at [Link to final article].-
dc.subjectLeigh syndrome-
dc.subjectgenetics-
dc.subjectneurology-
dc.subjecttherapy and pre-clinical research-
dc.titleManagement of Leigh syndrome: Current status and new insights-
dc.typeArticle-
dc.identifier.emailTse, HF: hftse@hkucc.hku.hk-
dc.identifier.emailLian, Q: qzlian@hkucc.hku.hk-
dc.identifier.authorityTse, HF=rp00428-
dc.identifier.authorityLian, Q=rp00267-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/cge.13139-
dc.identifier.pmid28905387-
dc.identifier.hkuros293370-
dc.identifier.isiWOS:000431979100002-
dc.publisher.placeDenmark-

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