ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway
ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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The most common mutation in southern Chinese individuals with late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD; a fatty acid metabolism disorder) is c.250G > A (p.Ala84Thr) in the electron transfer flavoprotein dehydrogenase gene (
ETFDH
). Various phenotypes, including episodic weakness or rhabdomyolysis, exercise intoleran...
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ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway
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TN_cdi_doaj_primary_oai_doaj_org_article_58102a6b95644f00bd0f9a7d77eab7a4
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_58102a6b95644f00bd0f9a7d77eab7a4
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-75286-4
