Results 101 to 110 of about 2,677 (178)

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

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

Identificazione di una variante missenso nel gene RBM10 in una famiglia sarda con disabilità intellettiva X-linked [PDF]

, 2016
X-linked intellectual disability (XLID) is a heterogeneous disorder, and mutations causing monogenic XLID have now been reported in over 100 genes. We report a five-generation Sardinian family in which seven affected male family members had intellectual ...
Meloni, Cristiana
core   +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

Creatine transporter (SLC6A8) knock out mice display an increased capacity for in vitro creatine biosynthesis in skeletal muscle

Frontiers in Physiology, 2014
The present study aimed to investigate whether skeletal muscle from whole body creatine transporter (CrT; SLC6A8) knockout mice (CrT-/y) actually contained creatine (Cr) and if so, whether this Cr could result from an up regulation of muscle Cr ...
Aaron Paul Russell, Lobna eGhobrial, Craig Robert Wright, Severine eLamon, Erin eBrown, Michihiro eKon, Matthew eSkelton, Rodney eSnow   +7 more
doaj   +1 more source

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

The Role of Adipocytes in the Tumor Microenvironment in Obesity-Driven Breast Cancer Progression [PDF]

, 2020
Obesity affects more than 1 in 3 adults in the United States and has been shown to increase the relative risk of death for women with breast cancer and to increase the risk of developing breast cancer in post-menopausal women.
Ackerman, Sarah
core   +1 more source

Comparative Frequency of Fragile-X (FMR1) and Creatine Transporter (SLC6A8) Mutations in X-Linked Mental Retardation [PDF]

The American Journal of Human Genetics, 2004
To the Editor:The study by Rosenberg et al. (2004xHigh prevalence of SLC6A8 deficiency in X-linked mental retardation. Rosenberg, EH, Almeida, LS, Kleefstra, T, deGrauw, RS, Yntema, HG, Bahi, N, Moraine, C, Ropers, HH, Fryns, JP, deGrauw, TJ, Jakobs, C, and Salomons, GS. Am J Hum Genet.
openaire   +2 more sources

Up-regulation of amino acid transporter SLC6A19 activity and surface protein abundance by PKB/Akt and PIKfyve

, 2015
Background: The amino acid transporter B0AT1 (SLC6A19) accomplishes concentrative cellular uptake of neutral amino acids. SLC6A19 is stimulated by serum- & glucocorticoid-inducible kinase (SGK) isoforms.
Alesutan, Ioana, Bogatikov, Evgenii, Bröer, Stefan, Böhmer, Christoph, Föller, Michael, Lang, Florian, Munoz, Carlos, Pakladok, Tatsiana, Palmada, Monica, Seebohm, Guiscard, Shojaiefard, Manzar   +10 more
core   +1 more source

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   +1 more source