A rare thyroid disorder mimicking mitochondrial disease [PDF]
Biomedicinska istraživanja, 2021 Introduction. Patients affected with Allan-Herndon-Dudley syndrome (AHDS) have a deficiency of monocarboxylate transporter 8 (MCT8), a protein primarily responsible for the transport of triiodothyronine (T3) into the brain.
Adrijan Sarajlija +3 more
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Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain [PDF]
, 2001 L-Arginine is a substrate for the synthesis of proteins, nitric oxide (NO), creatine, urea, proline, glutamate, polyamines and agmatine. In the central nervous system (CNS), arginine is extracted from the blood and exchanged by cells through carriers ...
Bachmann, C. +4 more
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AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. [PDF]
, 2008 Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
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Na+-dependent and Na+-independent betaine transport across the apical membrane of rat renal epithelium [PDF]
, 2015 The low renal excretion of betaine indicates that the kidney efficiently reabsorbs the betaine filtered by the glomeruli but the mechanisms involved in such a process have been scarcely investigated.
Calonge Castrillo, María Luisa +2 more
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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect [PDF]
, 2011 The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored.
Jiddeke M. van de Kamp +11 more
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Treatment experience in two adults with creatinfe transporter deficiency
Molecular Genetics and Metabolism Reports, 2021 Background: Creatine transporter deficiency (CTD) is an X-linked form of intellectual disability (ID) caused by SCL6A8 mutations. Limited information exists on the adult course of CTD, and there are no treatment studies in adults.
Jack Schjelderup +3 more
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Anti-oxidants in Parkinson's disease therapy: a critical point of view [PDF]
, 2016 Parkinson's disease (PD) is a degenerative neurological syndrome, which is characterized by the preferential death of dopaminergic (DAergic) neurons in the SubstantiaNigra.
Beltramini, Mariano +3 more
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Upregulation of the Creatine Transporter Slc6A8 by Klotho
Kidney & Blood Pressure Research, 2014 Background/Aims: The transmembrane Klotho protein contributes to inhibition of 1,25(OH)2D3 formation. The extracellular domain of Klotho protein could function as an enzyme with e.g. β-glucuronidase activity, be cleaved off and be released into blood and
Ahmad Almilaji +8 more
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Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency. [PDF]
PLoS ONE, 2011 Mutations in the creatine (Cr) transporter (CrT; Slc6a8) gene lead to absence of brain Cr and intellectual disabilities, loss of speech, and behavioral abnormalities.
Matthew R Skelton +6 more
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Muscle carnosine metabolism and β-alanine supplementation in relation to exercise and training [PDF]
, 2010 Carnosine is a dipeptide with a high concentration in mammalian skeletal muscle. It is synthesized by carnosine synthase from the amino acids L-histidine and beta-alanine, of which the latter is the rate-limiting precursor, and degraded by carnosinase ...
Baguet, Audrey +3 more
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