202 related articles for article (PubMed ID: 23716276)
1. 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. PubMed ID: 23716276
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Deletion of the creatine transporter gene in neonatal, but not adult, mice leads to cognitive deficits.
Udobi KC; Delcimmuto N; Kokenge AN; Abdulla ZI; Perna MK; Skelton MR
J Inherit Metab Dis; 2019 Sep; 42(5):966-974. PubMed ID: 31209903
[TBL] [Abstract][Full Text] [Related]
4. Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis.
Chen HR; Zhang-Brotzge X; Morozov YM; Li Y; Wang S; Zhang HH; Kuan IS; Fugate EM; Mao H; Sun YY; Rakic P; Lindquist DM; DeGrauw T; Kuan CY
JCI Insight; 2021 Sep; 6(17):. PubMed ID: 34324436
[TBL] [Abstract][Full Text] [Related]
5. Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice.
Abdulla ZI; Pahlevani B; Lundgren KH; Pennington JL; Udobi KC; Seroogy KB; Skelton MR
J Mol Neurosci; 2020 Jan; 70(1):102-111. PubMed ID: 31520365
[TBL] [Abstract][Full Text] [Related]
6. 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; 25(19):4186-4200. PubMed ID: 27466184
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 24789340
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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; 6(1):e16187. PubMed ID: 21249153
[TBL] [Abstract][Full Text] [Related]
10. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.
Thurm A; Himelstein D; DʼSouza P; Rennert O; Jiang S; Olatunji D; Longo N; Pasquali M; Swedo S; Salomons GS; Carrillo N
J Dev Behav Pediatr; 2016 May; 37(4):322-6. PubMed ID: 27096572
[TBL] [Abstract][Full Text] [Related]
11. Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency.
Ullio-Gamboa G; Udobi KC; Dezard S; Perna MK; Miles KN; Costa N; Taran F; Pruvost A; Benoit JP; Skelton MR; Lonlay P; Mabondzo A
Nanomedicine (Lond); 2019 Jun; 14(12):1579-1593. PubMed ID: 31038003
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report.
Wang Q; Yang J; Liu Y; Li X; Luo F; Xie J
BMC Med Genet; 2018 Nov; 19(1):193. PubMed ID: 30400883
[TBL] [Abstract][Full Text] [Related]
14. Creatine transport and pathological changes in creatine transporter deficient mice.
Wawro AM; Gajera CR; Baker SA; Nirschl JJ; Vogel H; Montine TJ
J Inherit Metab Dis; 2021 Jul; 44(4):939-948. PubMed ID: 33389772
[TBL] [Abstract][Full Text] [Related]
15. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM; Betsalel OT; Mercimek-Mahmutoglu S; Abulhoul L; Grünewald S; Anselm I; Azzouz H; Bratkovic D; de Brouwer A; Hamel B; Kleefstra T; Yntema H; Campistol J; Vilaseca MA; Cheillan D; D'Hooghe M; Diogo L; Garcia P; Valongo C; Fonseca M; Frints S; Wilcken B; von der Haar S; Meijers-Heijboer HE; Hofstede F; Johnson D; Kant SG; Lion-Francois L; Pitelet G; Longo N; Maat-Kievit JA; Monteiro JP; Munnich A; Muntau AC; Nassogne MC; Osaka H; Ounap K; Pinard JM; Quijano-Roy S; Poggenburg I; Poplawski N; Abdul-Rahman O; Ribes A; Arias A; Yaplito-Lee J; Schulze A; Schwartz CE; Schwenger S; Soares G; Sznajer Y; Valayannopoulos V; Van Esch H; Waltz S; Wamelink MM; Pouwels PJ; Errami A; van der Knaap MS; Jakobs C; Mancini GM; Salomons GS
J Med Genet; 2013 Jul; 50(7):463-72. PubMed ID: 23644449
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Is low serum creatine kinase a nonspecific screening marker for creatine deficiency syndromes?
Mercimek-Mahmutoglu S; Al-Thihli K; Roland E
Mol Genet Metab; 2012 Jun; 106(2):251-2. PubMed ID: 22551696
[No Abstract] [Full Text] [Related]
18. 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. PubMed ID: 22751104
[TBL] [Abstract][Full Text] [Related]
19. SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Sanders K; Peck D; Bentz Pino G; Studinski Jones A; White A; Gavrilov D; Matern D; Oglesbee D; Schultz M; Tortorelli S; Hall PL
Mol Genet Metab; 2024 May; 142(1):108455. PubMed ID: 38531184
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 24137762
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]