Results 81 to 90 of about 1,836 (142)

Table3_SLC6A8 is a Potential Biomarker for Poor Prognosis in Lung Adenocarcinoma.xlsx

, 2022
Background: Recent studies have demonstrated that creatine can promote tumor metastasis and has implications for immune cell function. SLC6A8 encodes a membrane protein that can transport creatine inside and outside the cell. However, there are currently
Kai Yuan (289810), Yong Zhou (23772), Zhaojia Gao (11167492), Yongfei Fan (12099734), Ming Lou (11167495), Xinwei Li (430518)   +5 more
core   +1 more source

Table2_SLC6A8 is a Potential Biomarker for Poor Prognosis in Lung Adenocarcinoma.xlsx

, 2022
Background: Recent studies have demonstrated that creatine can promote tumor metastasis and has implications for immune cell function. SLC6A8 encodes a membrane protein that can transport creatine inside and outside the cell. However, there are currently
Kai Yuan (289810), Yong Zhou (23772), Zhaojia Gao (11167492), Yongfei Fan (12099734), Ming Lou (11167495), Xinwei Li (430518)   +5 more
core   +1 more source

Down-Regulation of the Na+,Cl- Coupled Creatine Transporter CreaT (SLC6A8) by Glycogen Synthase Kinase GSK3ß

Cellular Physiology and Biochemistry, 2016
Background: The Na+,Cl- coupled creatine transporter CreaT (SLC6A8) is expressed in a variety of tissues including the brain. Genetic defects of CreaT lead to mental retardation with seizures.
Myriam Fezai, Mohamed Jemaà, Hajar Fakhri, Hong Chen, Bhaeldin Elsir, Lisann Pelzl, Florian Lang   +6 more
doaj   +1 more source

Table1_SLC6A8 is a Potential Biomarker for Poor Prognosis in Lung Adenocarcinoma.xlsx

, 2022
Background: Recent studies have demonstrated that creatine can promote tumor metastasis and has implications for immune cell function. SLC6A8 encodes a membrane protein that can transport creatine inside and outside the cell. However, there are currently
Kai Yuan (289810), Yong Zhou (23772), Zhaojia Gao (11167492), Yongfei Fan (12099734), Ming Lou (11167495), Xinwei Li (430518)   +5 more
core   +1 more source

A novel mouse model of creatine transporter deficiency [v1; ref status: indexed, http://f1000r.es/4f8]

F1000Research, 2014
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral ...
Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso   +9 more
doaj   +1 more source

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model

Neurobiology of Disease
Creatine transporter deficiency (CTD) is an inborn error of creatine (Cr) metabolism in which Cr is not properly distributed to the brain due to a mutation in the Cr transporter (CrT) SLC6A8 gene.
Clémence Disdier, Amélie Soyer, Léa Broca-Brisson, Sébastien Goutal, Anne-Cécile Guyot, Nora Ziani, Louise Breuil, Alexandra Winkeler, Gaëlle Hugon, Thomas Joudinaud, Henri Bénech, Jean Armengaud, Matthew R. Skelton, Rania Harati, Rifat A. Hamoudi, Nicolas Tournier, Aloïse Mabondzo   +16 more
doaj   +1 more source

A novel mouse model of creatine transporter deficiency [v2; ref status: indexed, http://f1000r.es/4zb]

F1000Research, 2015
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral ...
Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Francesca Zonfrillo, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso   +10 more
doaj   +1 more source

Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter

, 2020
More than 80 loss-of-function (LOF) mutations in the SLC6A8 creatine transporter (hCRT1) are responsible for cerebral creatine deficiency syndrome (CCDS), which gives rise to a spectrum of neurological defects, including intellectual disability, epilepsy,
Richard Bonneau (4318), Sheng Chen, Charles P. Kuntz (8634990), Julia Koehler Leman (740751), Sheng Chen (21971), Wesley D. Penn, Wesley D. Penn (6157967), Martin D. Salazar, Jonathan P. Schlebach, Jonathan P. Schlebach (1326678), Nathan B. Zelt, Martin D. Salazar (8634981), Nathan B. Zelt (8634984), Robert Saldivar, Richard Bonneau, Robert Saldivar (8634987), Julia Koehler Leman, Charles P. Kuntz   +17 more
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Genomic architecture of carcass and pork traits and their association with immune capacity

Animal
Carcass and pork traits have traditionally been considered of prime importance in pig breeding programmes. However, the changing conditions in modern farming, coupled with antimicrobial resistance issues, are raising the importance of health and ...
T. Jové-Juncà, D. Crespo-Piazuelo, O. González-Rodríguez, M. Pascual, C. Hernández-Banqué, J. Reixach, R. Quintanilla, M. Ballester   +7 more
doaj   +1 more source

X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8

, 2002
Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently.
Bizzi, A., Alberto Bizzi, Graziella Uziel, Ugo Danesi, Bugiani, M., Salomons, G. S., Margherita Estienne, Hunneman, Donald H., Marianna Bugiani, Estienne, M., Donald H. Hunneman, Isabella Moroni, Gajja S. Salomons, Uziel, G., Danesi, U., Cornelis Jakobs, Jakobsen, Jannik E., Moroni, I.   +17 more
core   +1 more source