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Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability

CTP:phosphocholine cytidylyltransferase (CCT) is the key regulatory enzyme in phosphatidylcholine (PC) synthesis and is activated by binding to PC-deficient membranes. Mutations in the gene encoding CCTα (PCYT1A) cause three distinct pathologies in humans: lipodystrophy, spondylometaphyseal dysplasi...

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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: Cornell, Rosemary B., Taneva, Svetla G., Dennis, Melissa K., Tse, Ronnie, Dhillon, Randeep K., Lee, Jaeyong
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6364779/
https://ncbi.nlm.nih.gov/pubmed/30559292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.006457
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