Results 11 to 20 of about 15,296 (267)

Creatine Kinase and Creatine Transporter in Normal, Wounded, and Diseased Skin [PDF]

Journal of Investigative Dermatology, 2002
Skin comprises many cell types that are characterized by high biosynthetic activity and increased energy turnover. The creatine kinase system, consisting of creatine kinase isoenzymes and creatine transporter, is known to be important to support the high energy demands in such cells.
Uwe Schlattner, Oliver Speer, Sabine Werner   +2 more
exaly   +5 more sources

Upregulation of the Creatine Transporter Slc6A8 by Klotho [PDF]

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, Mentor Sopjani, Bernat Elvira, José Borras, Miribane Dërmaku-Sopjani, Carlos Munoz, Jamshed Warsi, Undine E. Lang, Florian Lang   +8 more
doaj   +5 more sources

Novel translational phenotypes and biomarkers for creatine transporter deficiency [PDF]

Brain Communications, 2020
Creatine transporter deficiency is a metabolic disorder characterized by intellectual disability, autistic-like behaviour and epilepsy. There is currently no cure for creatine transporter deficiency, and reliable biomarkers of translational value for ...
Raffaele Mazziotti, Giulia Sagona, Elena Putignano   +2 more
exaly   +4 more sources

Removal of Potential Phosphorylation Sites does not Alter Creatine Transporter Response to PKC or Substrate Availability

Cellular Physiology and Biochemistry, 2015
Background: Creatine, Phosphocreatine, and creatine kinases, constitute an energy shuttle that links ATP production in mitochondria with cellular consumption sites.
Lucia Santacruz, Marcus D. Darrabie, Rajashree Mishra, Danny O. Jacobs   +3 more
doaj   +2 more sources

Oxidative phosphorylation in creatine transporter deficiency. [PDF]

NMR Biomed, 2021
X‐linked creatine transporter deficiency (CTD) is one of the three types of cerebral creatine deficiency disorders. CTD arises from pathogenic variants in the X‐linked gene SLC6A8. We report the first phosphorus (31P) MRS study of patients with CTD, where both phosphocreatine and total creatine concentrations were found to be markedly reduced.
Li S, Bianconi S, van der Veen JW, Dang Do A, Stolinski J, Cecil KM, Hannah-Shmouni F, Porter FD, Shen J.   +8 more
europepmc   +4 more sources

Creatine transporter deficiency: Novel mutations and functional studies

Molecular Genetics and Metabolism Reports, 2016
X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel.
O. Ardon, M. Procter, R. Mao, N. Longo, Y.E. Landau, A. Shilon-Hadass, L.V. Gabis, C. Hoffmann, M. Tzadok, G. Heimer, S. Sada, B. Ben-Zeev, Y. Anikster   +12 more
doaj   +2 more sources

Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency [PDF]

eLife, 2023
Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the SLC6A8 gene. The impaired creatine uptake in the brain results in intellectual disability, behavioral disorders, language delay, and seizures.
Léa Broca-Brisson, Rania Harati, Clémence Disdier, Orsolya Mozner, Romane Gaston-Breton, Auriane Maïza, Narciso Costa, Anne-Cécile Guyot, Balazs Sarkadi, Agota Apati, Matthew R Skelton, Lucie Madrange, Frank Yates, Jean Armengaud, Rifat Hamoudi, Aloïse Mabondzo   +15 more
doaj   +2 more sources

Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review [PDF]

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   +2 more sources

[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation [PDF]

Scientific Reports
Pathogenic variants in the creatine transporter gene SLC6A8, reported to represent 2% of all intellectual disabilities in males, result in a spectrum of behavioral abnormalities including developmental delay, intellectual disability, and deficit in ...
Isabel Day, Mikayla Tamboline, Lindsay Lueptow, Irina Zhuravka, Taryn Diep, Ilona Tkachyova, Shili Xu, Andreas Schulze, Gerald S. Lipshutz   +8 more
doaj   +2 more sources

New creatine transporter assay and identification of distinct creatine transporter isoforms in muscle

American Journal of Physiology-Endocrinology and Metabolism, 2002
Despite the pivotal role of creatine (Cr) and phosphocreatine (PCr) in muscle metabolism, relatively little is known about sarcolemmal creatine transport, creatine transporter (CRT) isoforms, and subcellular localization of the CRT proteins. To be able to quantify creatine transport across the sarcolemma, we have developed a new in vitro assay using ...
Walzel, Bernd, Speer, Oliver, Boehm, Ernie, Kristiansen, Søren, Chan, Sharon, Clarke, Kierian, Magyar, Joseph P., Richter, Erik A., Wallimann, Theo   +8 more
openaire   +6 more sources