Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 105

1.

Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency.

Kurosawa Y, Degrauw TJ, Lindquist DM, Blanco VM, Pyne-Geithman GJ, Daikoku T, Chambers JB, Benoit SC, Clark JF.

J Clin Invest. 2012 Aug;122(8):2837-46. doi: 10.1172/JCI59373. Epub 2012 Jul 2.

2.

Female mice heterozygous for creatine transporter deficiency show moderate cognitive deficits.

Hautman ER, Kokenge AN, Udobi KC, Williams MT, Vorhees CV, Skelton MR.

J Inherit Metab Dis. 2014 Jan;37(1):63-8. doi: 10.1007/s10545-013-9619-x. Epub 2013 May 29.

PMID:
23716276
3.

Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency.

Skelton MR, Schaefer TL, Graham DL, Degrauw TJ, Clark JF, Williams MT, Vorhees CV.

PLoS One. 2011 Jan 13;6(1):e16187. doi: 10.1371/journal.pone.0016187.

4.

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.

Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD.

Mol Genet Metab. 2014 Aug;112(4):259-74. doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29. Review.

PMID:
24953403
5.

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

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS.

Am J Med Genet A. 2005 Jan 30;132A(3):288-95.

PMID:
15690373
6.

High 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, Salomons GS.

Am J Hum Genet. 2004 Jul;75(1):97-105. Epub 2004 May 20.

7.

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.

Kleefstra T, Rosenberg EH, Salomons GS, Stroink H, van Bokhoven H, Hamel BC, de Vries BB.

Clin Genet. 2005 Oct;68(4):379-81. No abstract available.

PMID:
16143026
9.

Electrophysiology and biochemical analysis of cyclocreatine uptake and effect in hippocampal slices.

Enrico A, Patrizia G, Luisa P, Alessandro P, Gianluigi L, Carlo G, Maurizio B.

J Integr Neurosci. 2013 Jun;12(2):285-97. doi: 10.1142/S0219635213500155. Epub 2013 Jul 15.

PMID:
23869866
10.

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Nota B, Ndika JD, van de Kamp JM, Kanhai WA, van Dooren SJ, van de Wiel MA, Pals G, Salomons GS.

Hum Mutat. 2014 Sep;35(9):1128-35. doi: 10.1002/humu.22609. Epub 2014 Jul 15.

PMID:
24962355
11.

Functional insights into the creatine transporter.

Christie DL.

Subcell Biochem. 2007;46:99-118. Review.

PMID:
18652074
12.

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

Puusepp H, Kall K, Salomons GS, Talvik I, Männamaa M, Rein R, Jakobs C, Õunap K.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S5-11.

PMID:
24137762
13.

A mouse model for creatine transporter deficiency reveals early onset cognitive impairment and neuropathology associated with brain aging.

Baroncelli L, Molinaro A, Cacciante F, Alessandrì MG, Napoli D, Putignano E, Tola J, Leuzzi V, Cioni G, Pizzorusso T.

Hum Mol Genet. 2016 Oct 1;25(19):4186-4200. doi: 10.1093/hmg/ddw252. Epub 2016 Jul 27.

PMID:
27466184
14.
15.

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency.

Dezortova M, Jiru F, Petrasek J, Malinova V, Zeman J, Jirsa M, Hajek M.

MAGMA. 2008 Sep;21(5):327-32. doi: 10.1007/s10334-008-0137-z. Epub 2008 Aug 26.

PMID:
18726626
16.

Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.

Martínez-Muñoz C, Rosenberg EH, Jakobs C, Salomons GS.

Gene. 2008 Jul 15;418(1-2):53-9. doi: 10.1016/j.gene.2008.04.003. Epub 2008 Apr 15.

PMID:
18515020
17.

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.

Braissant O, Henry H.

J Inherit Metab Dis. 2008 Apr;31(2):230-9. doi: 10.1007/s10545-008-0826-9. Epub 2008 Apr 4. Review.

PMID:
18392746
18.

X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

van de Kamp JM, Mancini GM, Salomons GS.

J Inherit Metab Dis. 2014 Sep;37(5):715-33. doi: 10.1007/s10545-014-9713-8. Epub 2014 May 1. Review.

PMID:
24789340
19.

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.

Mercimek-Mahmutoglu S, Muehl A, Salomons GS, Neophytou B, Moeslinger D, Struys E, Bodamer OA, Jakobs C, Stockler-Ipsiroglu S.

Mol Genet Metab. 2009 Apr;96(4):273-5. doi: 10.1016/j.ymgme.2008.12.020. Epub 2009 Feb 1.

PMID:
19188083
20.

Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.

Ndika JD, Lusink V, Beaubrun C, Kanhai W, Martinez-Munoz C, Jakobs C, Salomons GS.

Gene. 2014 Jan 10;533(2):488-93. doi: 10.1016/j.gene.2013.10.008. Epub 2013 Oct 18.

PMID:
24144841

Supplemental Content

Support Center