Results 21 to 30 of about 1,836 (142)

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

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

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

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   +2 more sources

The Role of CAF‐derived Vitronectin in Promoting Colorectal Cancer Progression and Immunosuppression [PDF]

Advanced Science
Cancer‐associated fibroblasts (CAFs) dominate the tumor stroma in colorectal cancer (CRC), fostering an immunosuppressive microenvironment that supports tumor growth, metastasis, and therapy resistance.
Jiahua Yu, Mengxi Xiu, Shijun Yu, Zhiqin Chen, Yandong Li, Yong Gao   +5 more
doaj   +2 more sources

Genetic Determinants of Creatine Bioavailability and Responsiveness: Emphasis on Common Low-Impact Variants

Lifestyle Genomics
Background: Creatine is a central regulator of cellular energy homeostasis and one of the most extensively studied dietary supplements in human nutrition.
Sergej M. Ostojic, Ivana Kavecan
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

SLC6A8-mediated creatine uptake suppresses ERK2-FSP1 signaling and induces ferroptosis in colorectal cancer

Cell Reports
Summary: Tumor metabolic reprogramming is critical for providing energy to support proliferation and resistance to stress-induced cell death. However, the regulatory mechanisms linking these processes remain incompletely understood.
Xiaojun Zhou, Genxin Wang, Yuhang Wu, Mingzhi Wu, Xiang Zhai, Chenhui Tian, Edward V. Prochownik, Congqing Jiang, Youjun Li   +8 more
doaj   +2 more sources

High prevalence of SLC6A8 deficiency in X-linked mental retardation. [PDF]

, 2004
Contains fulltext : 58306.pdf (Publisher’s version ) (Closed access)A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine ...
Kleefstra, T, Ligia S. Almeida, Rose S. deGrauw, Salomons, GS, Rosenberg, EH, Salomons, Gajja S., Fryns, Jean-Pierre, deGrauw, Ton J., Nadia Bahi, Ropers, H.H., Gajja S. Salomons, Salomons, G.S., Moraine, C, Helger G. Yntema, Yntema, HG, Jakobs, Cornelis, Almeida, LS, Jakobs, C, Rosenberg, E.H., Moraine, Claude, Ton J. deGrauw, Kleefstra, Tjitske, Fryns, JP, Grauw, T.J. de, Yntema, Helger G., Bahi, N., Bahi, Nadia, Bahi, N, Tjitske Kleefstra, Hans-Hilger Ropers, deGrauw, TJ, Jakobs, C., deGrauw, Rose S., Fryns, J.P., Ropers, Hans-Hilger, Claude Moraine, Rosenberg, Efraim H., Efraim H. Rosenberg, Cornelis Jakobs, Kleefstra, T., deGrauw, RS, Jean-Pierre Fryns, Moraine, C., Almeida, L.S., Ropers, HH, Grauw, R.S. de, Almeida, Ligia S., Yntema, H.G.   +47 more
core   +5 more sources