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Neuroscience, 2006 Hereditary creatine transporter deficiency causes brain damage, despite the brain having the enzymes to synthesize creatine. Such damage occurring despite an endogenous synthesis is not easily explained. This condition is incurable, because creatine may not be delivered to the brain without its transporter.
Tullio Florio, A Cupello, S V Burov
exaly +6 more sources
Creatine transporter and mitochondrial creatine kinase protein content in myopathies
Muscle & Nerve, 2001 AbstractTotal creatine or phosphocreatine, or both, are reduced in the skeletal muscle of patients with inflammatory myopathy, mitochondrial myopathy, and muscular dystrophy/congenital myopathy. We used Western blotting techniques to measure skeletal muscle creatine transporter protein and sarcomeric mitochondrial creatine kinase (mtCK) protein content
Tarnopolsky, M. A. +4 more
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Congenital Creatine Transporter Deficiency
Neuropediatrics, 2002Two inborn errors of metabolism of creatine synthesis as well as the X-linked creatine transporter (SLC6A8) deficiency have been recognized. This report describes the features of five identified male patients and their female relatives who are carriers of the X-linked creatine transporter deficiency syndrome.Proton MR spectroscopy was used to recognize
G S Salomons, Kim M Cecil, M B Schapiro
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Creatine transporter deficiency in two half‐brothers
American Journal of Medical Genetics, Part A, 2010AbstractX‐linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene. Here, we report two half‐brothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with delays in development and slow progress since then with no ...
Orly Ardon +2 more
exaly +5 more sources
Neuroscience Letters, 2018 Creatine is pivotal in energy metabolism of the brain. In primary creatine deficiency syndromes, creatine is missing from the brain. Two of them (AGAT and GAMT deficiency) are due to impaired creatine synthesis, and can be treated by creatine ...
Enrico Adriano +2 more
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Creatine transport and pathological changes in creatine transporter deficient mice
Journal of Inherited Metabolic Disease, 2021AbstractThe severe impact on brain function and lack of effective therapy for patients with creatine (Cr) transporter deficiency motivated the generation of three ubiquitous Slc6a8 deficient mice (−/y). While each mouse knock‐out line has similar behavioral effects at 2 to 3 months of age, other features critical to the efficient use of these mice in ...
Adam M. Wawro +5 more
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Biochimica et Biophysica Acta (BBA) - Biomembranes, 2022
Creatine (Cr) is needed to maintain high energy levels in cells. Since Cr plays reportedly a critical role in neurodevelopment and the immune system, Cr dynamics should be strictly regulated to control these physiological events. This review focuses on the role of transporters that recognize Cr and/or Cr precursors.
Ryuta, Jomura +3 more
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Creatine (Cr) is needed to maintain high energy levels in cells. Since Cr plays reportedly a critical role in neurodevelopment and the immune system, Cr dynamics should be strictly regulated to control these physiological events. This review focuses on the role of transporters that recognize Cr and/or Cr precursors.
Ryuta, Jomura +3 more
openaire +2 more sources
Dodecyl Creatine Ester-Loaded Nanoemulsion as a Promising Therapy for Creatine Transporter Deficiency [PDF]
Nanomedicine, 2019 Creatine transporter (CrT) deficiency is an X-linked intellectual disability caused by mutations of CrT. This work focus on the preclinical development of a new therapeutic approach based on a microemulsion (ME) as drug delivery system for dodecyl ...
Kenea C Udobi +2 more
exaly +2 more sources