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Article

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.

American journal of human genetics - 2 Jan 2014

Hoover-Fong Julie, Sobreira Nara, Jurgens Julie, Modaff Peggy, Blout Carrie, Moser Ann, Kim Ok-Hwa, Cho Tae-Joon, Cho Sung Yoon, Kim Sang Jin, Jin Dong-Kyu, Kitoh Hiroshi, Park Woong-Yang, Ling Hua, Hetrick Kurt N, Doheny Kimberly F, Valle David, Pauli Richard M

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24387990
DOI: 10.1016/j.ajhg.2013.11.018
PMCID: PMC3882727

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Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.PMID 24387990Read ↗

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 formationSemantic proximity Read ↗

Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.Semantic proximity Read ↗

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PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in mice retinaSemantic proximity Read ↗

ACBD5-related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency.Semantic proximity Read ↗

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.Semantic proximity Read ↗

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Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 miceSemantic proximity Read ↗

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary UltrastructureSemantic proximity Read ↗

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.Semantic proximity Read ↗

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