Associated Papers
Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).
Yuan X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.
Gechijian LN et al.
Acs Chemical Biology, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism.
Almatrafi M et al.
Journal of Autism and Developmental Disorders, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Brugger M et al.
Gene, 2021
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].
Nozaki F et al.
No to Hattatsu = Brain and Development, 2015
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
van de Kamp JM et al.
Journal of Inherited Metabolic Disease, 2014
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM et al.
Journal of Medical Genetics, 2013
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
Hu H et al.
The Hugo Journal, 2009
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg EH et al.
Human Mutation, 2007
Functional insights into the creatine transporter.
Christie DL
Sub-cellular Biochemistry, 2007
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ et al.
Human Genetics, 2006
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg EH et al.
American Journal of Human Genetics, 2004
A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Zhang Z et al.
Journal of the American Medical Informatics Association : Jamia, 0