[HTML][HTML] Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability
RB Cornell, SG Taneva, MK Dennis, R Tse… - Journal of Biological …, 2019 - ASBMB
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 dysplasia with cone-rod dystrophy (SMD-
CRD), and isolated retinal dystrophy. Previous analyses showed that for some disease-
linked PCYT1A variants steady state levels of CCTα and PC synthesis were reduced 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 dysplasia with cone-rod dystrophy (SMD-
CRD), and isolated retinal dystrophy. Previous analyses showed that for some disease-
linked PCYT1A variants steady state levels of CCTα and PC synthesis were reduced in …