Associated Papers
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C et al.
The Journal of Clinical Investigation, 2023
Involvement of a Cluster of Basic Amino Acids in Phosphorylation-Dependent Functional Repression of the Ceramide Transport Protein CERT.
Goto A et al.
International Journal of Molecular Sciences, 2022
Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
Tamura N et al.
The Journal of Biological Chemistry, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.
Murakami H et al.
Plos One, 2020
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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