Results 21 to 30 of about 2,677 (178)

Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency [PDF]

Molecular Genetics & Genomic Medicine, 2021
Background Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene.
Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li   +4 more
doaj   +3 more sources

Spatial metabolomics highlights metabolic reprogramming in acute myeloid leukemia mice through creatine pathway [PDF]

Acta Pharmaceutica Sinica B
Acute myeloid leukemia (AML) is recognized as an aggressive cancer that is characterized by significant metabolic reprogramming. Here, we applied spatial metabolomics to achieve high-throughput, in situ identification of metabolites within the liver ...
Yucheng Bao, Jing Qiao, Wenjie Gong, Ruihong Zhang, Yanting Zhou, Yinyin Xie, Yuan Xie, Jiuming He, Tong Yin   +8 more
doaj   +2 more sources

Regulation of the Na+,Cl- Coupled Creatine Transporter CreaT (SLC6A8) by the Janus Kinase JAK3

Neurosignals, 2015
Background: The creatine transporter CreaT (SLC6A8), a Na+,Cl- coupled transporter is expressed in diverse tissues including the brain. Genetic defects of SLC6A8 result in mental retardation with seizures.
Myriam Fezai, Jamshed Warsi, Florian Lang   +2 more
doaj   +3 more sources

Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial Ca2+ homeostasis, and severe muscle atrophy [PDF]

Cell Death and Disease
Creatine (Cr) is essential for cellular energy homeostasis, particularly in muscle and brain tissues. Creatine Transporter Deficiency (CTD), an X-linked disorder caused by mutations in the SLC6A8 gene, disrupts Cr transport, leading to intellectual ...
Irene Pertici, Donato D’Angelo, Denis Vecellio Reane, Massimo Reconditi, Ilaria Morotti, Elena Putignano, Debora Napoli, Giorgia Rastelli, Gaia Gherardi, Agnese De Mario, Rosario Rizzuto, Simona Boncompagni, Laura Baroncelli, Marco Linari, Marco Caremani, Anna Raffaello   +15 more
doaj   +2 more sources

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   +3 more sources

Upregulation and epigenetic modification of the creatine transporter SLC6A8 in non-small cell lung cancer [PDF]

Histology and histopathology
Introduction. Lung cancer is a major cause of cancer-related death worldwide and effective therapies, besides surgery, are available only for a small proportion of patients.
Ammerpohl, Ole, Drömann, Daniel, Fischer, Rieke N., Goldmann, Torsten, Kuempers, Christiane, Marwitz, Sebastian, Perner, Sven, Scheel, Andreas H., Schnepf, Karoline, Watermann, Christian   +9 more
core   +4 more sources

Pan-Cancer Analysis of the Oncogenic and Immunological Role of Solute Carrier Family 6 Member 8 (SLC6A8)

Frontiers in Genetics, 2022
There is mounting evidence on the implication of SLC6A8 in the initiation and progression of human cancers. However, a comprehensive understanding of the role of SLC6A8 in pan-cancer remains elusive yet.
Xin Yang, Qiao Li
doaj   +1 more source

Long Non-Coding RNA AL513318.2 as ceRNA Binding to hsa-miR-26a-5p Upregulates SLC6A8 Expression and Predicts Poor Prognosis in Non-Small Lung Cancer

Frontiers in Oncology, 2022
BackgroundStudies have demonstrated that the regulatory role of competitive endogenous RNA (ceRNA) networks is closely related to tumorigenesis, which provides new targets for tumor therapy. In this study, the focus was to explore the ceRNA networks that
Yongfei Fan, Yong Zhou, Xinwei Li, Ming Lou, Zhaojia Gao, Zhaojia Gao, Kai Yuan, Kai Yuan, Jichun Tong, Jichun Tong   +9 more
doaj   +1 more source

Focal epilepsy with sensory seizures associated with arginine:glycine amidinotransferase deficiency: A clinical and advanced magnetic resonance imaging study. [PDF]

Epilepsia
Abstract We aim to determine whether epilepsy can be considered part of the arginine:glycine amidinotransferase (AGAT) deficiency syndrome phenotype and to identify its associated electroclinical signatures. We reviewed clinical data from our center, identifying individuals with AGAT deficiency. Each individual underwent a dedicated epilepsy assessment
Fortunato F, De Fiores R, Sammarra I, Bonacci MC, Caligiuri ME, Sturniolo M, Martino I, Gambardella A.   +7 more
europepmc   +2 more sources

SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress

Journal of Experimental & Clinical Cancer Research, 2021
Background Triple-negative breast cancer (TNBC) is the most aggressive subtype of breast cancer, with poor prognosis and limited treatment options. Hypoxia is a key hallmark of TNBC.
Qiao Li, Manran Liu, Yan Sun, Ting Jin, Pengpeng Zhu, Xueying Wan, Yixuan Hou, Gang Tu   +7 more
doaj   +1 more source