Results 11 to 20 of about 1,441 (115)

Multiple machine learning algorithms identified SLC6A8 as a diagnostic biomarker of the late stage of Hepatocellular carcinoma [PDF]

Discover Oncology
Hepatocellular carcinoma (HCC) is a chronic liver disease characterized by persistent tumor growth, contributing significantly to mortality rates worldwide.
Linlin Song, Hongli Zhang, Wang Yang
doaj   +2 more sources

SLC6A8 Knockdown Suppresses the Invasion and Migration of Human Hepatocellular Carcinoma Huh-7 and Hep3B Cells

Technology in Cancer Research and Treatment, 2020
Liver cancer is considered the sixth most commonly diagnosed cancer and the fourth leading cause of cancer-related deaths worldwide. Currently, there is no specific and effective therapy for hepatocellular carcinoma.
Chenyi Zhuo, Zuoming Xu, Chuan Tan
exaly   +2 more sources

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

Advanced Science, Volume 13, Issue 3, 14 January 2026.
This study identifies CARD9 as a key mediator linking sympathetic β2‐adrenergic receptor signaling to macrophage creatine metabolism, inflammatory polarization, and neuronal integrity. Loss of β2‐AR‐PKA‐CREB1‐CARD9 signaling in macrophages reduces creatine uptake, promotes pro‐inflammatory macrophage activation, and drives sympathetic axon ferroptosis.
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
wiley   +2 more sources

Intratesticular creatine maintains spermatogenesis by defining tight junctions [PDF]

Scientific Reports
One in five couples who wish to conceive is infertile, and half of these couples have male infertility. However, the causes of male infertility are still largely unknown.
Sohei Kuribayashi, Shinichiro Fukuhara, Hiroaki Kitakaze, Go Tsujimura, Takahiro Imanaka, Norichika Ueda, Kentaro Takezawa, Masahito Ikawa, Norio Nonomura   +8 more
doaj   +2 more sources

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

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, Huimin Zhao
exaly   +2 more sources

Expanding the phenotypic spectrum of Xq28 duplication involving MECP2: a familial case report [PDF]

Frontiers in Psychiatry
X-linked intellectual disability (XLID) is a well-recognized group of neurodevelopmental disorders, with pathogenic variants in X-chromosomal genes accounting for approximately 16% of intellectual disability cases in males. Clinical expression in females
Katerina Gaberova, Iliyana Hristova Pacheva, Ralitsa Yordanova, Tihomir Todorov, Albena Todorova, Liliyana Grozdanova, Margarita Panova, Mariyana Georgieva, Ivan Stefanov Ivanov   +8 more
doaj   +2 more sources

Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort [PDF]

Orphanet Journal of Rare Diseases
Background Creatine Transporter Deficiency (CTD) is a rare X-linked disorder caused by pathogenic or likely pathogenic variants in the SLC6A8 gene, leading to a deficiency of cerebral Creatine.
Maria Grazia Alessandrì, Chiara Bosetti, Elena Scaffei, Claudia Casalini, Simona Balestrini, Luciana Tramacere, Pierfrancesco Ambrosi, Michela Tosetti, Renzo Guerrini, Roberta Battini   +9 more
doaj   +2 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   +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

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