scholarly journals X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28

2002 ◽  
Vol 70 (5) ◽  
pp. 1349-1356 ◽  
Author(s):  
Kimberly A. Hahn ◽  
Gajja S. Salomons ◽  
Darci Tackels-Horne ◽  
Tim C. Wood ◽  
Harold A. Taylor ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Transporter Gene ◽  
Creatine Transporter

Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening

2007 ◽  
Vol 40 (16-17) ◽  
pp. 1328-1331 ◽  
Author(s):  
Angela Arias ◽  
Marc Corbella ◽  
Carmen Fons ◽  
Angela Sempere ◽  
Judit García-Villoria ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency ◽  
Metabolite Screening

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

2007 ◽  
Vol 28 (9) ◽  
pp. 890-896 ◽  
Author(s):  
Efraim H. Rosenberg ◽  
Cristina Martínez Muñoz ◽  
Ofir T. Betsalel ◽  
Silvy J.M. van Dooren ◽  
Matilde Fernandez ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Transporter Gene ◽  
Creatine Transporter ◽  
Diagnostic Application ◽  
Missense Variants

scholarly journals Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits

2019 ◽  
Vol 42 (5) ◽  
pp. 966-974 ◽  
Author(s):  
Kenea C. Udobi ◽  
Nicholas Delcimmuto ◽  
Amanda N. Kokenge ◽  
Zuhair I. Abdulla ◽  
Marla K. Perna ◽  
...  
Keyword(s):  
Cognitive Deficits ◽  
Transporter Gene ◽  
Creatine Transporter ◽  
Adult Mice

Skeletal Muscle Total Creatine Content and Creatine Transporter Gene Expression in Vegetarians Prior to and Following Creatine Supplementation

2004 ◽  
Vol 14 (5) ◽  
pp. 517-531 ◽  
Author(s):  
Kenneth K.O. Watt ◽  
Andrew P. Garnham ◽  
Rodney J. Snow
Keyword(s):  
Gene Expression ◽  
Skeletal Muscle ◽  
Alternative Treatment ◽  
Creatine Supplementation ◽  
Crossover Design ◽  
Transporter Gene ◽  
Double Blind ◽  
Creatine Transporter ◽  
Before And After ◽  
Total Creatine

This study examined the effect of vegetarianism on skeletal muscle total creatine (TCr) content and creatine transporter (CreaT) gene expression, prior to and during 5 d of Cr supplementation (CrS). In a double-blind, crossover design, 7 vegetarians (VEG) and nonvegetarians (NVEG) were assigned Cr or placebo supplements for 5 d and after 5 wk, received the alternative treatment. Muscle sampling occurred before, and after 1 and 5 d of treatment ingestion. Basal muscle TCr content was lower (P < 0.05) in VEG compared with NVEG. Muscle TCr increased (P < 0.05) throughout the Cr trial in both groups but was greater (P < 0.05) in VEG compared with NVEG, at days 1 and 5. CreaT gene expression was not different between VEG and NVEG. The results indicate that VEG have a lower muscle TCr content and an increased capacity to load Cr into muscle following CrS. Muscle CreaT gene expression does not appear to be affected by vegetarianism.

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

2006 ◽  
Vol 29 (1) ◽  
pp. 220-223 ◽  
Author(s):  
P. Póo-Argüelles ◽  
A. Arias ◽  
M. A. Vilaseca ◽  
A. Ribes ◽  
R. Artuch ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Severe Mental Retardation ◽  
Creatine Transporter ◽  
Creatine Transporter Deficiency ◽  
Transporter Deficiency

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

2007 ◽  
Vol 143A (15) ◽  
pp. 1771-1774 ◽  
Author(s):  
Roberta Battini ◽  
Anna Chilosi ◽  
Davide Mei ◽  
Manuela Casarano ◽  
M. Grazia Alessandrì ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Creatine Transporter

scholarly journals Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8

2017 ◽  
Author(s):  
Kenea C. Udobi ◽  
Amanda N. Kokenge ◽  
Emily R. Hautman ◽  
Gabriela Ullo ◽  
Julie Coene ◽  
...  
Keyword(s):  
Cognitive Deficits ◽  
Water Maze ◽  
Memory Deficits ◽  
Whole Body ◽  
Novel Object Recognition ◽  
Transporter Gene ◽  
Biochemical Phenotype ◽  
Creatine Transporter ◽  
Novel Object ◽  
Path Lengths

AbstractCreatine transporter (CrT; SLC6A8) deficiency (CTD) is an X-linked disorder characterized by severe cognitive deficits, impairments in language, and an absence of brain creatine (Cr). In a previous study, we generated floxed Slc6a8 (Slc6a8flox) mice to create ubiquitous Slc6a8 knockout (Slc6a8-/y) mice. Slc6a8-/y mice lacked whole body Cr and exhibited cognitive deficits. While Slc6a8-/y mice have a similar biochemical phenotype to CTD patients, they also showed a reduction in size and reductions in swim speed that may have contributed to the observed deficits. To address this, we created brain-specific Slc6a8 knockout (bKO) mice by crossing Slc6a8Flox mice with Nestin-cre mice. bKO mice had reduced cerebral Cr levels while maintaining normal Cr levels in peripheral tissue. Interestingly, brain concentrations of the Cr synthesis precursor guanidinoacetic acid were increased in bKO mice. bKO mice had longer latencies and path lengths in the Morris water maze, without reductions in swim speed. In accordance with data from Slc6a8-/y mice, bKO mice showed deficits in novel object recognition as well as contextual and cued fear conditioning. bKO mice were also hyperactive, in contrast with data from the Slc6a8-/ymice. The results demonstrate that the loss of cerebral Cr is responsible for the learning and memory deficits seen in ubiquitous Slc6a8-/y mice.

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