Results 201 to 210 of about 6,531 (222)

Dodecyl creatine ester, a promising treatment to deliver creatine to neurons, achieves pharmacology efficacy in creatine transporter deficiency

European Journal of Medicinal Chemistry
International audienceDodecyl creatine ester (DCE) is a creatine prodrug currently developed for brain diseases, including creatine transporter deficiency (CTD), an incurable rare genetic disease.
Clemence Disdier, Anne-Cécile Guyot, Narciso Costa   +2 more
exaly   +2 more sources

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The clinical syndrome of creatine transporter deficiency

Molecular and Cellular Biochemistry, 2003
To describe the clinical, spectroscopic and neuropsychological features of the first family diagnosed with a defect in the creatine transporter. Proton Magnetic Resonance Spectroscopy (MRS) indicated an absence of creatine and phosphocreatine in the brain of a male patient characterized by developmental delay, mild epilepsy and severe expressive ...
Ton J, deGrauw, Kim M, Cecil, Anna W, Byars, Gajja S, Salomons, William S, Ball, Cornelis, Jakobs   +5 more
openaire   +2 more sources

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

Molecular Genetics and Metabolism, 2010
Creatine transporter (CRTR) deficiency is one of the most frequent causes of X-linked mental retardation. The lack of an effective treatment for this disease, in contrast to creatine (Cr) biosynthesis disorders that respond to Cr monohydrate (CM), led us to analyze the efficacy of a lipophilic molecule derived from Cr, creatine ethyl ester (CEE), in ...
Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A   +13 more
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Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

Annals of Neurology, 2001
AbstractRecent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported cases demonstrate partial reversibility of neurologic symptoms upon restoration of CNS creatine levels with the administration of oral creatine.
K M, Cecil, G S, Salomons, W S, Ball, B, Wong, G, Chuck, N M, Verhoeven, C, Jakobs, T J, DeGrauw   +7 more
openaire   +2 more sources

Creatine Transporter Deficiency

2011
Abstract XLID caused by cerebral creatine deficiency with decreased muscle mass, hypotonia, expressive language impairment, seizures, and aberrant behavior. Mutations in the solute transporter SLC6A8 are the cause and may represent one of the most common causes of XLID (1–3%).
Roger E. Stevenson, Charles E. Schwartz, R. Curtis Rogers   +2 more
openaire   +1 more source

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

Analytical Biochemistry, 2008
Creatine transporter 1 (CT1) defect is an X-linked disease that causes severe neurological impairment. No treatment has been available for this condition so far. Because the transport of creatine (Cr) precursors Gly and Arg is not affected in this disorder, we tested the possible corrective effect of these two amino acids on Cr depletion in ...
Leuzzi V, Alessandri MG, Casarano M, Battini R, Cioni G   +4 more
openaire   +2 more sources

SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations

Molecular Genetics and Metabolism
Creatine transporter deficiency has been described with normal or uninformative levels of creatine and creatinine in plasma, while urine has been the preferred specimen type for biochemical diagnosis. We report a cohort of untreated patients with creatine transporter deficiency and abnormal plasma creatine panel results, characterized mainly by ...
Dimitar Gavrilov, Matthew Schultz
exaly   +3 more sources

Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency

Psychiatric Genetics
X-linked creatine transporter deficiency is caused by hemizygous or heterozygous pathogenic variants in SLC6A8 that cause neuropsychiatric symptoms because of impaired uptake of creatine into tissues throughout the body. Small cohorts have suggested that supplementation of creatine, arginine, and glycine can stop disease progression in males, but only ...
Kara, Tauer, Caroline, Theile, Joshua W, Owens, Kim M, Cecil, Amelle, Shillington   +4 more
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X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder

Journal of Child Neurology, 2010
X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy.
Hathaway, S.C., Friez, M., Limbo, K., Parker, C., Salomons, G.S., Vockley, J., Wood, T., Abdul-Rahman, O.A.   +7 more
openaire   +4 more sources

[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].

Revista de neurologia, 2007
Brain creatine deficiencies are a group of inborn errors of metabolism recently recognized which are caused by arginine: glycine amidinotransferase (AGAT) deficiency, guanidinoacetate metiltransferase (GAMT) deficiency and defects in creatine transporter (CRTR).
Campistol J, Arias-Dimas A, Poo P, Pineda M, Hoffman M, Vilaseca MA, Artuch R, Ribes A   +7 more
openaire   +2 more sources