Associated Papers
A mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hypoactivity and cognitive deficits.
Perna MK et al.
Brain Research, 2026
Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency.
Gechijian LN et al.
Acs Chemical Biology, 2024
Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency.
Tauer K et al.
Psychiatric Genetics, 2024
[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].
Li Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
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
Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism.
Almatrafi M et al.
Journal of Autism and Developmental Disorders, 2023
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.
Farr CV et al.
Frontiers in Synaptic Neuroscience, 2020
Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
El-Kasaby A et al.
Neuropharmacology, 2019
SLC6 Transporter Folding Diseases and Pharmacochaperoning.
Freissmuth M et al.
Handbook of Experimental Pharmacology, 2018
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
DesRoches CL et al.
Gene, 2015
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
van de Kamp JM et al.
Journal of Inherited Metabolic Disease, 2014
RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
Nota B et al.
Human Mutation, 2014
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Dunbar M et al.
Molecular Genetics and Metabolism, 2014
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM et al.
Journal of Medical Genetics, 2013
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Betsalel OT et al.
Molecular Genetics and Metabolism, 2012
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
van de Kamp JM et al.
Clinical Genetics, 2011
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Arias A et al.
Clinical Biochemistry, 2007
Severe epilepsy in X-linked creatine transporter defect (CRTR-D).
Mancardi MM et al.
Epilepsia, 2007
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Stockler S et al.
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
Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.
Mancini GM et al.
American Journal of Medical Genetics. Part A, 2005
[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].
Campistol J et al.
Revista De Neurologia, 0
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