Results 91 to 100 of about 1,836 (142)

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

Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency. [PDF]

Mol Ther Methods Clin Dev
Creatine de fi ciency syndromes (CDS), caused by mutations in GATM (AGAT), GAMT , and SLC6A8 , mainly affect the central nervous system (CNS). CDS show brain creatine (Cr) de fi ciency, intellectual disability with severe speech delay, behavioral ...
Fernandes-Pires G, Azevedo MD, Lanzillo M, Roux-Petronelli C, Binz PA, Cudalbu C, Sandi C, Tenenbaum L, Braissant O.   +8 more
europepmc   +2 more sources

A MODEL OF CREATINE DEFICIENCY SYNDROMES IN 3D BRAIN CELL CULTURES BY KNOCKDOWN OF GAMT AND SLC6A8 GENES

, 2012
La créatine joue un rôle essentiel dans le métabolisme cellulaire par sa conversion, par la creatine kinase, en phosphocreatine permettant la régénération de l'ATP.
Béard, E.
core  

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families

, 2005
Four Dutch male patients, two brothers from unrelated families were referred for investigation of psychomotor and severe language/speech delay. All four patients showed growth deficiency over the years.
Mancini, G. M.S., Salomons, G. S., Duran, M., Mancini, G. M. S., Catsman-Berrevoets, C. E., Kamphoven, J. H.J., Jakobs, C., De Coo, I. F.M., Kamphoven, J. H. J., de Coo, I. F. M., Aarsen, F. K., van der Knaap, M. S., Huijmans, J. G.   +12 more
core   +1 more source

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts

, 2018
International audienceCreatine transporter is currently the focus of renewed interest with emerging roles in brain neurotransmission and physiology, and the bioenergetics of cancer metastases.
Huet, Guillemette, Vamecq, Joseph, Joncquel-Chevalier Curt, Marie, Kim, Isabelle, Monique Fontaine, David Cheillan, Stéphanie Moortgat, Fontaine, Monique, Marie-Adélaïde Bout, Jean-Marie Cuisset, Marie Joncquel-Chevalier Curt, Bout, Marie-Adélaïde, Morin, Gilles, Bekri, Soumeya, Isabelle Kim, Moerman, Alexandre, Gilles Morin, Moortgat, Stéphanie, Cuisset, Jean-Marie, Soumeya Bekri, Joseph Vamecq, Guillemette Huet, Alexandre Moerman, Cheillan, David   +23 more
core   +1 more source

Reverse phenotyping after ngs panel of x-linked intellectual disability unravels creatine transporter (SLC6A8) deficiency [PDF]

X-linked intellectual disability (XLID) is characterized by extensive genetic heterogeneity. Next-generation sequencing (NGS) have been used in these cases as a cost-effective diagnosis approach.
Padeira, Gonçalo, Venâncio, Margarida, Marcão, Ana, Ferreira, Ana Cristina, Conceição, Carla, Jacinto, Sandra   +5 more
core  

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

, 2011
X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified.
van der Haar, Sigrun, Haar, S. van der, Raynaud, Martine, Lipkowitz, B., Sigrun van der Haar, Wei, C., Gecz, J., Hilde van Esch, Anna Hackett, de Brouwer, A.P., de Brouwer, Arjan P.M., Henn, Wolfram, Ropers, H.H., Bettina Lipkowitz, Martine Raynaud, Jamel Chelly, Chelly, J., Reinhardt, Richard, Jensen, L.R., Jensen, Lars R., Lipkowitz, Bettina, Van Esch, Hilde, Musante, Luciana, Kalscheuer, Vera M., Tzschach, A., van der Haar, S., Moser, B., Raynaud, M., Gecz, Jozef, Vera M Kalscheuer, Musante, L., Luciana Musante, de Brouwer, A., Bettina Moser, Kuss, A.W., Meloni, Ilaria, Jensen, L., Hackett, A., Kuss, A., et al., Christopher Schroeder, Moser, Bettina, Jozef Gecz, Riess, O., Van Esch, H., Henn, W., Kalscheuer, V.M., Andreas Tzschach, Kalscheuer, V., Michael Bonin, Ropers, H., Esch, H. van, Meloni, I., Riess, Olaf, Kuss, Andreas W., Wei Chen, Andreas W Kuss, Wolfram Henn, Tzschach, Andreas, Kalscheuer, V.M.M., Schroeder, Christopher, Hackett, Anna, Reinhardt, R., Bonin, Michael, Chen, W., Lars R Jensen, Richard Reinhardt, Chen, Wei, Schroeder, C., Hans-Hilger Ropers, Chelly, Jamel, Ropers, Hans-Hilger, Ilaria Meloni, Olaf Riess, Brouwer, A.P.M. de, Bonin, M., Arjan P M de Brouwer   +76 more
core   +1 more source

Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial Ca2+ homeostasis, and severe muscle atrophy

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   +1 more source

Fuelled by creatine: exploring two copies of the creatine transporter SLC6A8 gene in rainbow trout. [PDF]

Fish Physiol Biochem
Borchel A, Müller-Eigner A, Görs S, Rebl H, Rebl A, Metges CC, Goldammer T, Verleih M.   +7 more
europepmc   +1 more source

Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy. [PDF]

Brain
Montani C, Iovino L, Di Vetta F, Pasquin Mariani JR, De Guzman AE, Gini S, Galbusera A, D'Epifanio B, Ghirardini E, Cornuti S, Dadà L, Putignano E, Alessandrì MG, Vasirani G, Bertozzi SM, Armirotti A, Baroncelli L, Gozzi A.   +17 more
europepmc   +1 more source