228 related articles for article (PubMed ID: 23578822)
21. Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8.
Udobi KC; Kokenge AN; Hautman ER; Ullio G; Coene J; Williams MT; Vorhees CV; Mabondzo A; Skelton MR
Genes Brain Behav; 2018 Jul; 17(6):e12461. PubMed ID: 29384270
[TBL] [Abstract][Full Text] [Related]
22. A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism.
Duran-Trio L; Fernandes-Pires G; Simicic D; Grosse J; Roux-Petronelli C; Bruce SJ; Binz PA; Sandi C; Cudalbu C; Braissant O
Sci Rep; 2021 Jan; 11(1):1636. PubMed ID: 33452333
[TBL] [Abstract][Full Text] [Related]
23. Classification of the Molecular Defects Associated with Pathogenic Variants of the
Salazar MD; Zelt NB; Saldivar R; Kuntz CP; Chen S; Penn WD; Bonneau R; Koehler Leman J; Schlebach JP
Biochemistry; 2020 Apr; 59(13):1367-1377. PubMed ID: 32207963
[TBL] [Abstract][Full Text] [Related]
24. Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Joncquel-Chevalier Curt M; Bout MA; Fontaine M; Kim I; Huet G; Bekri S; Morin G; Moortgat S; Moerman A; Cuisset JM; Cheillan D; Vamecq J
Mol Genet Metab; 2018 Apr; 123(4):463-471. PubMed ID: 29478817
[TBL] [Abstract][Full Text] [Related]
25. Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3.
Shojaiefard M; Christie DL; Lang F
Biochem Biophys Res Commun; 2005 Sep; 334(3):742-6. PubMed ID: 16036218
[TBL] [Abstract][Full Text] [Related]
26. Determination of Intrinsic Creatine Transporter (Slc6a8) Activity and Creatine Transport Function of Leukocytes in Rats.
Taii A; Tachikawa M; Ohta Y; Hosoya KI; Terasaki T
Biol Pharm Bull; 2020; 43(3):474-479. PubMed ID: 32115505
[TBL] [Abstract][Full Text] [Related]
27. X-linked creatine transporter defect: an overview.
Salomons GS; van Dooren SJ; Verhoeven NM; Marsden D; Schwartz C; Cecil KM; DeGrauw TJ; Jakobs C
J Inherit Metab Dis; 2003; 26(2-3):309-18. PubMed ID: 12889669
[TBL] [Abstract][Full Text] [Related]
28. Structural correlates of the creatine transporter function regulation: the undiscovered country.
Santacruz L; Jacobs DO
Amino Acids; 2016 Aug; 48(8):2049-55. PubMed ID: 26951207
[TBL] [Abstract][Full Text] [Related]
29. 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. PubMed ID: 24962355
[TBL] [Abstract][Full Text] [Related]
30. Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Valayannopoulos V; Boddaert N; Chabli A; Barbier V; Desguerre I; Philippe A; Afenjar A; Mazzuca M; Cheillan D; Munnich A; de Keyzer Y; Jakobs C; Salomons GS; de Lonlay P
J Inherit Metab Dis; 2012 Jan; 35(1):151-7. PubMed ID: 21660517
[TBL] [Abstract][Full Text] [Related]
31. Intestinal Epithelial Creatine Transporter SLC6A8 Dysregulation in Inflammation and in Response to Adherent Invasive
Sawant H; Selvaraj R; Manogaran P; Borthakur A
Int J Mol Sci; 2024 Jun; 25(12):. PubMed ID: 38928243
[TBL] [Abstract][Full Text] [Related]
32. Fenugreek increases insulin-stimulated creatine content in L6C11 muscle myotubes.
Tomcik KA; Smiles WJ; Camera DM; Hügel HM; Hawley JA; Watts R
Eur J Nutr; 2017 Apr; 56(3):973-979. PubMed ID: 26732502
[TBL] [Abstract][Full Text] [Related]
33. Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
van de Kamp JM; Mancini GM; Pouwels PJ; Betsalel OT; van Dooren SJ; de Koning I; Steenweg ME; Jakobs C; van der Knaap MS; Salomons GS
Clin Genet; 2011 Mar; 79(3):264-72. PubMed ID: 20528887
[TBL] [Abstract][Full Text] [Related]
34. Regulation of the Na+,Cl- Coupled Creatine Transporter CreaT (SLC6A8) by the Janus Kinase JAK3.
Fezai M; Warsi J; Lang F
Neurosignals; 2015; 23(1):11-9. PubMed ID: 26666525
[TBL] [Abstract][Full Text] [Related]
35. 'Choline/orphan V8-2-1/creatine transporter' mRNA is expressed in nervous, renal and gastrointestinal systems.
Gonzalez AM; Uhl GR
Brain Res Mol Brain Res; 1994 May; 23(3):266-70. PubMed ID: 8057783
[TBL] [Abstract][Full Text] [Related]
36. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Comeaux MS; Wang J; Wang G; Kleppe S; Zhang VW; Schmitt ES; Craigen WJ; Renaud D; Sun Q; Wong LJ
Mol Genet Metab; 2013 Jul; 109(3):260-8. PubMed ID: 23660394
[TBL] [Abstract][Full Text] [Related]
37. Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?
Hanna-El-Daher L; Braissant O
Amino Acids; 2016 Aug; 48(8):1877-95. PubMed ID: 26861125
[TBL] [Abstract][Full Text] [Related]
38. X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.
Schiaffino MC; Bellini C; Costabello L; Caruso U; Jakobs C; Salomons GS; Bonioli E
Neurogenetics; 2005 Sep; 6(3):165-8. PubMed ID: 16086185
[TBL] [Abstract][Full Text] [Related]
39. X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.
Póo-Argüelles P; Arias A; Vilaseca MA; Ribes A; Artuch R; Sans-Fito A; Moreno A; Jakobs C; Salomons G
J Inherit Metab Dis; 2006 Feb; 29(1):220-3. PubMed ID: 16601898
[TBL] [Abstract][Full Text] [Related]
40. Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
DesRoches CL; Patel J; Wang P; Minassian B; Salomons GS; Marshall CR; Mercimek-Mahmutoglu S
Gene; 2015 Jul; 565(2):187-91. PubMed ID: 25861866
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]