Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Materials.docx
Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.
Kim YM et al.
Journal of Clinical Medicine, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C et al.
The Journal of Clinical Investigation, 2023
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
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
30445427 (PubMed )
Supplement: gky1159_supplemental_files.xlsx › SupplT1
Phosphoinositide binding by the PH domain in ceramide transfer protein (CERT) is inhibited by hyperphosphorylation of an adjacent serine-repeat motif.
Sugiki T et al.
The Journal of Biological Chemistry, 2018
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown Author
Nature, 2015
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