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
core +4 more sources
Brain Sciences, 2023 (1) Background: X-linked creatine transporter deficiency (CTD) (OMIM 300036) is a rare group of inherited metabolic disorders characterized by global developmental delay/intellectual disability (GDD/ID), seizures, autistic behavior, and movement ...
Jiaqing Li, Sanqing Xu
doaj +1 more source
Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development. [PDF]
, 2015 Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetate in
Braissant, O. +4 more
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The genetic basis of non-syndromic intellectual disability: a review [PDF]
, 2010 Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result of genetic mutation. Where ID is present together with additional clinical symptoms or physical anomalies, there is often sufficient information available
John B. Vincent +2 more
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Orphanet Journal of Rare Diseases, 2012 A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD).
Cheillan David +30 more
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Journal of Extracellular Vesicles, 2021 Acute myeloid leukaemia (AML) carrying nucleophosmin (NPM1) mutations has been defined as a distinct entity of acute leukaemia. Despite remarkable improvements in diagnosis and treatment, the long‐term outcomes for this entity remain unsatisfactory ...
Meixi Peng +15 more
doaj +1 more source
A Gad2 specific Slc6a8 deletion recapitulates the contextual and cued freezing deficits seen in Slc6a8<sup>-/y</sup> mice. [PDF]
Brain ResThe creatine (Cr)-phosphocreatine shuttle is essential for ATP homeostasis. In humans, the absence of brain Cr causes significant intellectual disability, epilepsy, and language delay. Mutations of the creatine transporter (SLC6A8) are the most common cause of Cr deficiency.
Sugimoto C +8 more
europepmc +3 more sources
Molecular characteristics of circulating tumor cells resemble the liver metastasis more closely than the primary tumor in metastatic colorectal cancer [PDF]
, 2016 Background: CTCs are a promising alternative for metastatic tissue biopsies for use in precision medicine approaches.
Biermann, K. (Katharina) +18 more
core +1 more source
Slc6a8-Mediated Creatine Uptake and Accumulation Reprogram Macrophage Polarization via Regulating Cytokine Responses [PDF]
Immunity, 2019 Macrophage polarization is accompanied by drastic changes in L-arginine metabolism. Two L-arginine catalytic enzymes, iNOS and arginase 1, are well-characterized hallmark molecules of classically and alternatively activated macrophages, respectively.
Liangliang Ji +8 more
openaire +2 more sources
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease [PDF]
Molecular Genetics and Metabolism, 2023 Creatine transporter deficiency (CTD), caused by pathogenic variants in SLC6A8, is the second most common cause of X-linked intellectual disability. Symptoms include intellectual disability, epilepsy, and behavioral disorders and are caused by reduced cerebral creatine levels.
Mejdahl Nielsen, Malene +9 more
openaire +4 more sources