Results 11 to 20 of about 2,677 (178)

CARD9 Conveys Pancreatic Islet Sympathetic Nervous β2 Signals to Reshape Macrophage Creatine Metabolism in Type 1 Diabetes [PDF]

Advanced Science
Type 1 diabetes (T1D) is an autoimmune disorder marked by the injury of pancreatic β cells, during which sympathetic neurons in the endocrine region of pancreas are lost, whereas those in the exocrine regions surrounding islets remain intact.
Huimin Yuan, Senlin Li, Shuai Liu, Hong Zhou, Yue Xu, Wenhui Li, Mengxuan Wang, Mengheng Wang, Mengzhu Zheng, Wenxi Shi, Xin Li, Yiting Feng, Ming Xiang   +12 more
doaj   +3 more sources

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts [PDF]

Scientific Reports
Creatine transporter deficiency (CTD) caused by mutations in SLC6A8 encoding the creatine transporter (CRT), leads to cerebral creatine deficiency syndromes; however, the cellular impact of CRT loss remains unclear.
Shingo Ito, Tatsuki Uemura, Ayaka Miyano, Hiroko Shimbo, Takeshi Masuda, Tomohide Goto, Hitoshi Osaka, Takahito Wada, Sumio Ohtsuki   +8 more
doaj   +3 more sources

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency. [PDF]

ACS Chem Biol
Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need.
Gechijian LN, Muncipinto G, Rettenmaier TJ, Labenski MT, Rusu V, Rosskamp L, Conway L, van Kalken D, Gross L, Iantosca G, Crotty W, Mathis R, Park H, Rabin B, Westgate C, Lyons M, Deshusses C, Brandon N, Brown DG, Blanchette HS, Pullen N, Jones LH, Barrish JC.   +22 more
europepmc   +5 more sources

SLC6A8 is a Potential Biomarker for Poor Prognosis in Lung Adenocarcinoma

Frontiers in Genetics, 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
Yongfei Fan, Yong Zhou, Ming Lou, Zhaojia Gao, Zhaojia Gao, Xinwei Li, Kai Yuan, Kai Yuan   +7 more
doaj   +3 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   +4 more sources

Negative Regulation of the Creatine Transporter SLC6A8 by SPAK and OSR1 [PDF]

Kidney & Blood Pressure Research, 2014
Background/Aims: Transport regulation involves several kinases including SPAK (SPS1-related proline/alanine-rich kinase) and OSR1 (oxidative stress-responsive kinase 1), which are under control of WNK (with-no-K[Lys]) kinases.
Myriam Fezai, Bernat Elvira, Jose Borras, Mossadok Ben-Attia, Zohreh Hoseinzadeh, Florian Lang   +5 more
doaj   +4 more sources

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes [PDF]

Neurobiology of Disease, 2010
AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant, Elidie Béard, Céline Torrent, Hugues Henry   +3 more
doaj   +4 more sources

Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency. [PDF]

PLoS ONE, 2011
Mutations in the creatine (Cr) transporter (CrT; Slc6a8) gene lead to absence of brain Cr and intellectual disabilities, loss of speech, and behavioral abnormalities.
Matthew R Skelton, Tori L Schaefer, Devon L Graham, Ton J Degrauw, Joseph F Clark, Michael T Williams, Charles V Vorhees   +6 more
doaj   +4 more sources

Is creatine a CNS neurotransmitter? [PDF]

eLife, 2023
A range of experiments suggests that creatine, a molecule known for recycling ATP in muscle and brain tissue, may also function as a neurotransmitter in the central nervous system.
Bhagaban Mallik, C Andrew Frank
doaj   +2 more sources

Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes [PDF]

Frontiers in Neuroscience
Creatine (Cr) is an organic acid essential for recycling ATP, important in tissues with high energy demand such as muscle or brain. Cr is synthesized in a 2-step pathway by the enzymes AGAT and GAMT, and transported by SLC6A8 (also called CrT).
Lara Duran-Trio, Marc Lanzillo, Dunja Simicic, Clothilde Roux-Petronelli, Stephen J. Bruce, Carmen Sandi, Cristina Cudalbu, Cristina Cudalbu, Olivier Braissant   +8 more
doaj   +2 more sources