Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina.
Wang K et al.
Bmc Biology, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
Genetic diseases of the Kennedy pathways for membrane synthesis.
Tavasoli M et al.
The Journal of Biological Chemistry, 2020
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.
Cornell RB et al.
The Journal of Biological Chemistry, 2019
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy.
Testa F et al.
European Journal of Human Genetics : Ejhg, 2017
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy.
Wong CK
Clinical Genetics, 2014
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong J et al.
American Journal of Human Genetics, 2014
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