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
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mejdahl Nielsen M et al.
Molecular Genetics and Metabolism, 2023
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus.
Lyons EL et al.
Bmc Genomics, 2023
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
van de Kamp JM et al.
Clinical Genetics, 2011
Creatine transporter deficiency in two adult patients with static encephalopathy.
Sempere A et al.
Journal of Inherited Metabolic Disease, 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
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
Kleefstra T et al.
Clinical Genetics, 2005
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