Results 91 to 100 of about 2,677 (178)

Síndromes de Deficiência Cerebral de Creatina

Acta Médica Portuguesa, 2013
Introdução: As síndromes de deficiência cerebral de creatina (OMIM 300036) são um grupo de patologias recentemente descritas,caracterizadas por defeitos congénitos no metabolismo da creatina.
Rui Malheiro, Luísa Diogo, Paula Garcia, Isabel Fineza, Guiomar Oliveira   +4 more
doaj   +1 more source

Retinoid X receptor suppresses a metastasis-promoting transcriptional program in myeloid cells via a ligand-insensitive mechanism [PDF]

, 2018
K
Bieniasz-Krzywiec, Pawel, Botó, Pál, Czimmerer, Zsolt, Dániel, Bence, Ehling, Manuel, Horváth, Attila, Kiss, Máté, Kolostyák, Zsuzsanna, Mazzone, Massimiliano, Nagy, Gergely, Nagy, László, Pap, Attila, Póliska, Szilárd, Szatmári, István, Tzerpos, Petros   +14 more
core   +1 more source

Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report

Epilepsia Open, Volume 10, Issue 1, Page 342-347, February 2025.
Abstract Creatine transporter deficiency (CRTR‐D) is a rare X‐linked inherited disease belonging to the group of cerebral creatine deficiency disorders. Major clinical features include developmental delay and epilepsy. To date, fewer than 200 individuals with CRTR‐D have been reported.
Maria Borrell‐Pichot, Carmen Fons, Susana Boronat, Alba Sierra‐Marcos   +3 more
wiley   +1 more source

Ucp1 Ablation Improves Skeletal Muscle Glycolytic Function in Aging Mice

Advanced Science, Volume 12, Issue 2, January 13, 2025.
In aging UCP1‐/‐ mice, brown fat function declines, while beige fat‐specific creatine biosynthesis is increased to sustain its mitochondrial function. Besides, the enhanced secreted creatine from beige fat is taken up by skeletal muscle and compensatorily improves muscle glycolytic function, thereby increasing energy metabolism.
Jin Qiu, Yuhan Guo, Xiaozhen Guo, Ziqi Liu, Zixuan Li, Jun Zhang, Yutang Cao, Jiaqi Li, Shuwu Yu, Sainan Xu, Juntong Chen, Dongmei Wang, Jian Yu, Mingwei Guo, Wenhao Zhou, Sainan Wang, Yiwen Wang, Xinran Ma, Cen Xie, Lingyan Xu   +19 more
wiley   +1 more source

Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

Clinical Genetics, 2014
The BCAP31 gene is located between SLC6A8, associated with X‐linked creatine transporter deficiency, and ABCD1, associated with X‐linked adrenoleukodystrophy. Recently, loss‐of‐function mutations in BCAP31 were reported in association with severe developmental delay, deafness and dystonia.
van de Kamp, J.M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin-Roque, J., Osaka, H., van Dooren, S.J.M., Mancini, G.M., Steinberg, S.J., Salomons, G.   +10 more
openaire   +6 more sources

Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring

Frontiers in Neuroscience
Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the Slc6a8 gene. The impaired creatine uptake in the brain leads to developmental delays with intellectual disability.
Léa Broca-Brisson, Clémence Disdier, Rania Harati, Rania Harati, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Aloïse Mabondzo   +10 more
doaj   +1 more source

Dietary nitrate attenuates high-fat diet-induced obesity via mechanisms involving higher adipocyte respiration and alterations in inflammatory status

Redox Biology, 2020
Emerging evidence indicates that dietary nitrate can reverse several features of the metabolic syndrome, but the underlying molecular mechanisms still remain elusive.
M. Peleli, D.M.S. Ferreira, L. Tarnawski, S. McCann Haworth, L. Xuechen, Z. Zhuge, P.T. Newton, J. Massart, A.S. Chagin, P.S. Olofsson, J.L. Ruas, E. Weitzberg, J.O. Lundberg, M. Carlström   +13 more
doaj   +1 more source

Ontogeny regulates creatine metabolism in rat small and large intestine [PDF]

, 2009
The ontogeny of intestinal CRT, AGAT and GAMT was investigated in foetuses, newborn, suckling, weaning and adult rats. In the colon, CRT mediates creatine transport because it was Na+- and Cl—dependent and inhibited by creatine and GPA.
Calonge Castrillo, María Luisa, García Delgado, Marta, García Miranda, Pablo, Ilundáin Larrañeta, María Anunciación Ana, Peral Rubio, María José   +4 more
core  

Long‐Term Creatine Supplementation Improves Cognitive and Hippocampal Structural Plasticity Impairments in a D‐Gal‐Induced Aging Model via Increasing CK‐BB Activity in the Brain

Food Science &Nutrition, Volume 13, Issue 1, January 2025.
Supplementary Creatine could serve as a potent neuroprotective substance, preventing or delaying the course of age‐related cognitive deficits by regulatine CK‐BB. ABSTRACT Creatine (Cr) is recognized for its role in enhancing cognitive functions through the phosphocreatine (pCr)–creatine kinase system involved in brain energy homeostasis.
Zhu Zhu, Hantao Zhang, Qianlin Li, Xu Han, Tiantian Wang, Wenjing Zhang, Feiyan Chen, Ling Gu, Qi Yao, Lin Chen, Yunan Zhao   +10 more
wiley   +1 more source

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases. [PDF]

, 2016
Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants.
Greene, Daniel, NIHR BioResource, Richardson, Sylvia, Turro, Ernest   +3 more
core   +3 more sources