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Journal Abstract Search

248 related items for PubMed ID: 33452333

  • 1. 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 15; 11(1):1636. PubMed ID: 33452333
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  • 2. 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 15; 48(8):1877-95. PubMed ID: 26861125
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  • 3. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
    Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S.
    Mol Genet Metab; 2024 May 15; 142(1):108362. PubMed ID: 38452609
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  • 4. Creatine biosynthesis and transport in health and disease.
    Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J.
    Biochimie; 2015 Dec 15; 119():146-65. PubMed ID: 26542286
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  • 5. Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.
    Salazar MD, Zelt NB, Saldivar R, Kuntz CP, Chen S, Penn WD, Bonneau R, Koehler Leman J, Schlebach JP.
    Biochemistry; 2020 Apr 07; 59(13):1367-1377. PubMed ID: 32207963
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  • 10. 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 07; 17(6):e12461. PubMed ID: 29384270
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  • 11. 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 10; 565(2):187-91. PubMed ID: 25861866
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  • 12. 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 10; 70(1):102-111. PubMed ID: 31520365
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  • 13. Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity.
    Heussinger N, Saake M, Mennecke A, Dörr HG, Trollmann R.
    Pediatr Neurol; 2017 Feb 10; 67():45-52. PubMed ID: 28065824
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  • 14. 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 10; 123(4):463-471. PubMed ID: 29478817
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  • 19. 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 10; 37(4):322-6. PubMed ID: 27096572
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