Associated Papers
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
Select a paper to view details