Mitochondrial bioenergetics and cardiolipin remodeling abnormalities in mitochondrial trifunctional protein deficiency.
Vieira Neto E, Wang M, Szuminsky AJ, Ferraro L, Koppes E, Wang Y, Van't Land C, Mohsen AW, Zanatta G, El-Gharbawy AH, Anthonymuthu TS, Tyurina YY, Tyurin VA, Kagan V, Bayır H, Vockley J.
Vieira Neto E, et al.
JCI Insight. 2024 Sep 10;9(17):e176887. doi: 10.1172/jci.insight.176887.
JCI Insight. 2024.
PMID: 39088276
Free PMC article.
Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder leading to a block in long-chain fatty acid beta-oxidation. Mutations in HADHA and HADHB, which encode the TFP alpha and beta subunits, respectively, usually result in combined TFP defi …
Mitochondrial trifunctional protein (TFP) deficiency is an inherited metabolic disorder leading to a block in long-chain fatty acid beta-oxi …