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Loss of function variants in <i>PCYT1A</i> causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation

2019-12-19

Abstract excerpt

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare autosomal recessive disorder of the skeleton and the retina caused by biallelic variants in PCYT1A , encoding the nuclear enzyme CTP:phosphocholine cytidylyltransferase α (CCTα), which catalyzes the rate-limiting step in phosphatidylcholine (PC) biosynthesis by the Kennedy pathway. As a first step in understanding the consequences of PCYT1...

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Literature Corpus work
592a497e-23cf-5f33-91e3-59209679b9cc
DOI
10.1101/2019.12.19.882191
Open publication

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Loss of function variants in <i>PCYT1A</i> causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formationDOI 10.1101/2019.12.19.882191
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