Results 41 to 50 of about 15,296 (267)

Clinical Manifestation in Females with X-linked Metabolic Disorders: Genetic and Pathophysiological Considerations

Journal of Inborn Errors of Metabolism and Screening, 2021
Inborn errors of metabolism are predominantly autosomal-recessive disorders, but several follow an X-linked pattern of inheritance. They are called X-linked recessive, if the female carriers are asymptomatic, and are called X-linked dominant disorders ...
Michael Beck
doaj   +1 more source

A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism

Frontiers in Physiology, 2018
Creatine serves as fast energy buffer in organs of high-energy demand such as brain and skeletal muscle. L-Arginine:glycine amidinotransferase (AGAT) and guanidinoacetate N-methyltransferase are responsible for endogenous creatine synthesis.
Malte Stockebrand, Malte Stockebrand, Ali Sasani, Ali Sasani, Devashish Das, Sönke Hornig, Irm Hermans-Borgmeyer, Hannah A. Lake, Hannah A. Lake, Dirk Isbrandt, Craig A. Lygate, Craig A. Lygate, Arend Heerschap, Axel Neu, Chi-Un Choe   +14 more
doaj   +1 more source

Determination of Intrinsic Creatine Transporter (Slc6a8) Activity and Creatine Transport Function of Leukocytes in Rats

Biological and Pharmaceutical Bulletin, 2020
Creatine transporter (CRT) deficiency (CRT-D) results in a significant reduction of brain creatine levels, which causes various neurological symptoms in early childhood, and diagnosis of the severity of CRT-D based on the residual CRT transport activity in liquid biopsy samples would be beneficial for early intervention.
Taii, Ayaka, Tachikawa, Masanori, Ohta, Yusuke, Hosoya, Ken-ichi, Terasaki, Tetsuya   +4 more
openaire   +3 more sources

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

BMC Medical Genetics, 2018
Background X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems.
Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie   +5 more
doaj   +1 more source

Creatine supplementation enhances anti-tumor immunity by promoting adenosine triphosphate production in macrophages

Frontiers in Immunology, 2023
Creatine is an indispensable organic compound utilized in physiological environments; however, its role in immunity is still poorly understood. Here, we show that creatine supplementation enhances anti-tumor immunity through the functional upregulation ...
Zhenzi Peng, Suguru Saito, Suguru Saito
doaj   +1 more source

Effects of Creatine Treatment on Jejunal Phenotypes in a Rat Model of Acidosis

Antioxidants, 2019
We investigated the effects of creatine treatment on jejunal phenotypes in a rat model of oxidative stress induced by acidosis. In particular, the activities of some antioxidant enzymes (superoxide dismutase, glutathione peroxidase, catalase, and ...
Chiara Sironi, Francesca Bodega, Luciano Zocchi, Cristina Porta   +3 more
doaj   +1 more source

Dietary guanidinoacetic acid increases the longissimus dorsi muscle depth of finishing pigs without requiring a higher standardised ileal digestible methionine + cysteine concentration

Italian Journal of Animal Science, 2022
The objective of this study was to evaluate the interaction of guanidinoacetic acid (GAA) with standardised ileal digestible methionine + cysteine (SID Met + Cys) levels in finishing pig diets on the performance, carcase characteristics, pork quality ...
Natália Yoko Sitanaka, Alice Eiko Murakami, Lucas Antônio Costa Esteves, Paula Carina de Oliveira, Eliane Gasparino, Angélica de Souza Khatlab, Paulo Cesar Pozza   +6 more
doaj   +1 more source

Creatine salts provide neuroprotection even after partial impairment of the creatine transporter

, 2017
Creatine, a compound that is critical for energy metabolism of nervous cells, crosses the blood-brain barrier (BBB) and the neuronal plasma membrane with difficulty, and only using its specific transporter.
Salis, A., Garbati, P., Damonte, G., GARBATI, PATRIZIA, BALESTRINO, MAURIZIO, Adriano, E., Millo, E., ADRIANO, ENRICO GIOVANNI, SALIS, ANNALISA, DAMONTE, GIANLUCA, MILLO, ENRICO, Balestrino, M.   +11 more
core   +1 more source

The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter [PDF]

, 2013
Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and ...
Munier, Francis L, Zuercher, Jurian, Verrey, François, Munier, F.L., Berger, Wolfgang, Camargo, S.M., Kloeckener-Gruissem, Barbara, Neidhardt, J., Zuercher, J., Verrey, F., Camargo, Simone M R, Abplanalp, J., Philp, N.J., Laczko, Endre, Abplanalp, Jeannette, Schorderet, D.F., Neidhardt, John, Laczko, E., Philp, Nancy J, Braun, Philipp, Braun, P., Philp, Nancy J., Schorderet, Daniel F., Munier, Francis L., Kloeckener-Gruissem, B., Schorderet, Daniel F, Camargo, Simone M. R., Berger, W., Abplanalp, Jeanette   +28 more
core   +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