Hiroaki Murakami Norito Tamura Yumi Enomoto Kentaro Shimasaki Kenji Kurosawa Kentaro Hanada
10.1371/journal.pone.0243980
PLoS One
2020 Dec 21;15(12):e0243980.
CC BY
https://pubmed.ncbi.nlm.nih.gov/33347465/
Gain of Function Mutation Intellectual Disability / genetics Protein Serine-Threonine Kinases / genetics
Gain of Function Mutation Intellectual Disability / genetics Protein Serine-Threonine Kinases / genetics Case Reports Research Support, Non-U.S. Gov't Cells, Cultured Female HCT116 Cells Humans Intellectual Disability / pathology Protein Domains Protein Serine-Threonine Kinases / chemistry Protein Serine-Threonine Kinases / metabolism Young Adult CERT1 protein, human Protein Serine-Threonine Kinases
PMC7751862
33347465
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT
2020