Animal models of pyruvate dehydrogenase complex deficiency: insight into mechanisms of cerebral abnormalities and tissue-specific role in metabolism

Primary pyruvate dehydrogenase complex (PDC) deficiency results from inborn errors in the genes encoding its component proteins with largely devastating outcomes. Among its genes, the X-linked PDHA1 gene is subject to a much higher rate of mutations. Despite the analysis of many PDC-deficient subjec...

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Hlavní autoři:	Mulchand S. Patel, Todd C. Rideout
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2026-06-01
Edice:	Frontiers in Medicine
Témata:	animal models cerebral development abnormalities high-fat diet murine phenylbutyrate pyruvate dehydrogenase complex deficiency
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fmed.2026.1861016/full
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