Associated Papers
PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina.
Wang K et al.
Bmc Biology, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
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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