X-linked creatine transporter deficiency: clinical aspects and pathophysiology

Creatine Deficiency Syndromes: Diagnostic Pearls and Pitfalls

(2016) Claire Hinnell et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Post-transcriptional regulation of the creatine transporter gene: Functional relevance of alternative splicing

(2014) Joseph D.T. Ndika et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Genotype-phenotype correlation of contiguous gene deletions ofSLC6A8, BCAP31andABCD1

(2014) J.M. van de Kamp et al.   CLINICAL GENETICS

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in theGAMTGene

(2014) Saadet Mercimek-Mahmutoglu et al.   HUMAN MUTATION

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

(2013) Pierre Cacciagli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8

(2013) Hidekazu Kato et al.   BRAIN & DEVELOPMENT

Living Without Creatine

(2013) Craig A. Lygate et al.   CIRCULATION RESEARCH

Creatine—A Dispensable Metabolite?

(2013) Heinrich Taegtmeyer et al.   CIRCULATION RESEARCH

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

(2013) Jeannette Abplanalp et al.   HUMAN MOLECULAR GENETICS

Electrophysiology and biochemical analysis of cyclocreatine uptake and effect in hippocampal slices

(2013) Adriano Enrico et al.   Journal of Integrative Neuroscience

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

(2013) J M van de Kamp et al.   JOURNAL OF MEDICAL GENETICS

Synthesis and Biological Evaluation of New Creatine Fatty Esters Revealed Dodecyl Creatine Ester as a Promising Drug Candidate for the Treatment of the Creatine Transporter Deficiency

(2013) Alexandra Trotier-Faurion et al.   JOURNAL OF MEDICINAL CHEMISTRY

AGAT knockout mice provide an opportunity to titrate tissue creatine content

(2013) Rodney J. Snow   JOURNAL OF PHYSIOLOGY-LONDON

Creatine and guanidinoacetate reference values in a French population

(2013) Marie Joncquel-Chevalier Curt et al.   MOLECULAR GENETICS AND METABOLISM

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

(2013) Sylvia Stockler-Ipsiroglu et al.   MOLECULAR GENETICS AND METABOLISM

Creatine deficiency syndrome. A treatable myopathy due to arginine–glycine amidinotransferase (AGAT) deficiency

(2013) S. Nouioua et al.   NEUROMUSCULAR DISORDERS

In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism

(2012) Claudia Carducci et al.   BMC NEUROSCIENCE

l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome

(2012) Chi-un Choe et al.   HUMAN MOLECULAR GENETICS

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency

(2012) Yuko Kurosawa et al.   JOURNAL OF CLINICAL INVESTIGATION

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

(2012) Vassili Valayannopoulos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers

(2012) Olivier Braissant   JOURNAL OF INHERITED METABOLIC DISEASE

New insights into creatine transporter deficiency: the importance of recycling creatine in the brain

(2012) Jiddeke M. van de Kamp et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Downregulation of the Creatine Transporter SLC6A8 by JAK2

(2012) Manzar Shojaiefard et al.   JOURNAL OF MEMBRANE BIOLOGY

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake

(2012) C. I. Nabuurs et al.   JOURNAL OF PHYSIOLOGY-LONDON

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

(2012) Joseph D.T. Ndika et al.   MOLECULAR GENETICS AND METABOLISM

Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?

(2012) Saadet Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

(2012) Ofir T. Betsalel et al.   MOLECULAR GENETICS AND METABOLISM

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

(2012) Hitoshi Osaka et al.   MOLECULAR GENETICS AND METABOLISM

Creatine metabolism and psychiatric disorders: Does creatine supplementation have therapeutic value?

(2012) Patricia J. Allen   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

(2012) Annamaria Chilosi et al.   Orphanet Journal of Rare Diseases

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability

(2011) Maria Antonietta Mencarelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

AMPK and substrate availability regulate creatine transport in cultured cardiomyocytes

(2011) Marcus D. Darrabie et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Creatine deficiency syndromes and the importance of creatine synthesis in the brain

(2011) Olivier Braissant et al.   AMINO ACIDS

The creatine kinase system and pleiotropic effects of creatine

(2011) Theo Wallimann et al.   AMINO ACIDS

The metabolic burden of creatine synthesis

(2011) John T. Brosnan et al.   AMINO ACIDS

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

(2011) Vassili Valayannopoulos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

(2011) Jiddeke M. van de Kamp et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Searching for a therapy of creatine transporter deficiency: some effects of creatine ethyl ester in brain slices in vitro

(2011) E. Adriano et al.   NEUROSCIENCE

SLC6 Neurotransmitter Transporters: Structure, Function, and Regulation

(2011) A. S. Kristensen et al.   PHARMACOLOGICAL REVIEWS

Creatine Transporter (CrT; Slc6a8) Knockout Mice as a Model of Human CrT Deficiency

(2011) Matthew R. Skelton et al.   PLoS One

GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis

(2010) Fahmi Nasrallah et al.   CLINICAL BIOCHEMISTRY

Clinical features and X-inactivation in females heterozygous for creatine transporter defect

(2010) JM van de Kamp et al.   CLINICAL GENETICS

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

(2010) Ofir T Betsalel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder

(2010) Samantha C. Hathaway et al.   JOURNAL OF CHILD NEUROLOGY

Functional and immunocytochemical characterization of the creatine transporter in rat hippocampal neurons

(2010) Joanna R. Dodd et al.   JOURNAL OF NEUROCHEMISTRY

Treatment of intractable epilepsy in a female with SLC6A8 deficiency

(2010) Saadet Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation

(2010) Simon Edvardson et al.   MOLECULAR GENETICS AND METABOLISM

ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY: A TREATABLE METABOLIC ENCEPHALOMYOPATHY

(2010) A. Verma   NEUROLOGY

In vivo neuroprotection by a creatine-derived compound: Phosphocreatine–Mg-complex acetate

(2009) L. Perasso et al.   BRAIN RESEARCH

Clinical Applications of Creatine Supplementation on Paediatrics

(2009) Athanasios Evangeliou et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language

(2009) DECLAN J O’ROURKE et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The blood-brain barrier transport and cerebral distribution of guanidinoacetate in rats: involvement of creatine and taurine transporters

(2009) Masanori Tachikawa et al.   JOURNAL OF NEUROCHEMISTRY

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

(2009) C. Fons et al.   MOLECULAR GENETICS AND METABOLISM

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes

(2009) Olivier Braissant et al.   NEUROBIOLOGY OF DISEASE

LOW CREATININE: THE DIAGNOSTIC CLUE FOR A TREATABLE NEUROLOGIC DISORDER

(2009) O. A. Bodamer et al.   NEUROLOGY

Immunohistochemical localisation of the creatine transporter in the rat brain

(2009) C.S.W. Mak et al.   NEUROSCIENCE

Na+/Cl−/creatine transporter activity and expression in rat brain synaptosomes

(2009) M.J. Peral et al.   NEUROSCIENCE

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

(2009) Udo F. H. Engelke et al.   NMR IN BIOMEDICINE

S-Adenosyl-l-methionine restores photoreceptor function following acute retinal ischemia

(2009) LEITH MOXON-LESTER et al.   VISUAL NEUROSCIENCE

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

(2008) Barbara Kloeckener-Gruissem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Creatine synthesis: hepatic metabolism of guanidinoacetate and creatine in the rat in vitro and in vivo

(2008) Robin P. da Silva et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts

(2008) Vincenzo Leuzzi et al.   ANALYTICAL BIOCHEMISTRY

Functions and effects of creatine in the central nervous system

(2008) Robert H. Andres et al.   BRAIN RESEARCH BULLETIN

The Creatine Transporter Gene Paralogous at 16p11.2 Is Expressed in Human Brain

(2008) Nadia Bayou et al.   COMPARATIVE AND FUNCTIONAL GENOMICS

Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency

(2008) Olivier Braissant et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene

(2008) Cristina Martínez-Muñoz et al.   GENE

Arginine supplementation in four patients with X-linked creatine transporter defect

(2008) C. Fons et al.   JOURNAL OF INHERITED METABOLIC DISEASE

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review

(2008) O. Braissant et al.   JOURNAL OF INHERITED METABOLIC DISEASE

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency

(2008) Monika Dezortova et al.   MAGNETIC RESONANCE MATERIALS IN PHYSICS BIOLOGY AND MEDICINE

Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency

(2008) S.U. Dhar et al.   MOLECULAR GENETICS AND METABOLISM

Treatment withl-Arginine improves neuropsychological disorders in a child with Creatine transporter defect

(2008) Anna Chilosi et al.   NEUROCASE

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

(2008) Ofir T. Betsalel et al.   NEUROGENETICS

CARDIAC MANIFESTATIONS IN A CHILD WITH A NOVEL MUTATION IN CREATINE TRANSPORTER GENE SLC6A8

(2008) I. A. Anselm et al.   NEUROLOGY