Results 161 to 170 of about 2,677 (178)

Downregulation of the Creatine Transporter SLC6A8 by JAK2

The Journal of Membrane Biology, 2012
Janus-activated kinase-2 (JAK2) participates in the regulation of the Na⁺-coupled glucose transporter SGLT1 and the Na⁺-coupled amino acid transporter SLC6A19. Concentrative cellular creatine uptake is similarly accomplished by Na⁺-coupled transport. The carrier involved is SLC6A8 (CreaT).
Manzar, Shojaiefard, Zohreh, Hosseinzadeh, Shefalee K, Bhavsar, Florian, Lang   +3 more
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Treatment of intractable epilepsy in a female with SLC6A8 deficiency

Molecular Genetics and Metabolism, 2010
A female heterozygous for a novel, disease causing, missense mutation in the X-linked cerebral creatine transporter (SLC6A8) gene (c.1067G>T, p.Gly356Val) presented with intractable epilepsy, mild intellectual disability and moderately reduced cerebral creatine levels.
Mercimek-Mahmutoglu, S., Connolly, M.B., Poskitt, K.J., Horvath, G.A., Lowry, N., Salomons, G.S., Casey, B., Sinclair, G., Davis, C., Jakobs, C., Stockler-Ipsiroglu, S.   +10 more
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Stimulation of the creatine transporter SLC6A8 by the protein kinase mTOR

Biochemical and Biophysical Research Communications, 2006
Cellular accumulation of creatine is accomplished by the Na(+), Cl(-), and creatine transporter CreaT (SLC6A8). The mammalian target of rapamycin (mTOR) is a kinase stimulating cellular nutrient uptake. The present experiments explored whether SLC6A8 is regulated by mTOR.
Manzar, Shojaiefard, David L, Christie, Florian, Lang   +2 more
openaire   +2 more sources

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

Molecular Genetics and Metabolism, 2012
Creatine transporter deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. Currently, 38 pathogenic, including 15 missense variants, are reported. In this study, we report 33 novel, including 6 missense variants. To classify all known missense variants, we transfected creatine deficient fibroblasts with the SLC6A8 ORF containing ...
Betsalel, O.T., Pop, A., Rosenberg, E.H., Fernandez-Ojeda, M., Jakobs, C., Salomons, G.S., de Brouwer, A.P.M., Wevers, R.A., Wevers, R.A., Wevers, R.A., Yntema, H.G.   +10 more
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Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3

Biochemical and Biophysical Research Communications, 2005
Creatine binds phosphate thus serving energy storage. Cellular creatine uptake is accomplished by the Na+,Cl-, creatine transporter CreaT (SLC6A8). The present study explored the regulation of SLC6A8 by the serum and glucocorticoid inducible kinase SGK1, a kinase upregulated during ischemia.
Manzar, Shojaiefard, David L, Christie, Florian, Lang   +2 more
openaire   +2 more sources

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts

Molecular Genetics and Metabolism, 2018
Creatine transporter is currently the focus of renewed interest with emerging roles in brain neurotransmission and physiology, and the bioenergetics of cancer metastases. We here report on amendments of a standard creatine uptake assay which might help clinical chemistry laboratories to extend their current range of measurements of creatine and ...
Joncquel-Chevalier Curt, Marie, Bout, Marie-Adélaïde, Fontaine, Monique, Kim, Isabelle, Huet, Guillemette, Bekri, Soumeya, Morin, Gilles, Moortgat, Stéphanie, Moerman, Alexandre, Cuisset, Jean-Marie, Cheillan, David, Vamecq, Joseph   +11 more
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The screening of SLC6A8 deficiency among Estonian families with X‐linked mental retardation

Journal of Inherited Metabolic Disease, 2009
SummaryThe urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X‐linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. We identified 11 boys from 9 families with an increased urinary Cr:Crn ratio (18%). In three related boys, a hemizygous
H, Puusepp, K, Kall, G S, Salomons, I, Talvik, M, Männamaa, R, Rein, C, Jakobs, K, Õunap   +7 more
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Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

Human Mutation, 2007
Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8). So far, 20 mutations in the SLC6A8 gene have been described. We have developed a diagnostic assay to test creatine uptake in fibroblasts.
Rosenberg, E.H., Martinez Munoz, C., Betsalel, O.T., Dooren, S. van, Fernandez, M., Jakobs, C., Grauw, T.J. de, Kleefstra, T., Schwartz, C.E., Salomons, G.S.   +9 more
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RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix

Human Mutation, 2014
Creatine transporter (SLC6A8) deficiency is the most common cause of cerebral creatine syndromes, and is characterized by depletion of creatine in the brain. Manifestations of this X-linked disorder include intellectual disability, speech/language impairment, behavior abnormalities, and seizures. At the moment, no effective treatment is available.
Nota, Benjamin, Ndika, Joseph D. T., van de Kamp, Jiddeke M., Kanhai, Warsha A., van Dooren, Silvy J. M., van de Wiel, Mark A., Pals, Gerard, Salomons, Gajja S.   +7 more
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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 ...
Karen, Sanders, Dawn, Peck, Gisele, Bentz Pino, April, Studinski Jones, Amy, White, Dimitar, Gavrilov, Dietrich, Matern, Devin, Oglesbee, Matthew, Schultz, Silvia, Tortorelli, Patricia L, Hall   +10 more
openaire   +2 more sources