243 related articles for article (PubMed ID: 22644605)
21. 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]
22. Molecular Mechanism of SLC6A8 Dysfunction with c.1699T > C (p.S567P) Mutation in Cerebral Creatine Deficiency Syndromes.
Jomura R; Sawada M; Tega Y; Akanuma SI; Tachikawa M; Hosoya KI
Biol Pharm Bull; 2024; 47(1):187-191. PubMed ID: 38233148
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.
Fezai M; Elvira B; Borras J; Ben-Attia M; Hoseinzadeh Z; Lang F
Kidney Blood Press Res; 2014; 39(6):546-54. PubMed ID: 25531585
[TBL] [Abstract][Full Text] [Related]
25. 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; 67():45-52. PubMed ID: 28065824
[TBL] [Abstract][Full Text] [Related]
26. 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. PubMed ID: 15154114
[TBL] [Abstract][Full Text] [Related]
27. Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8.
Ferrada E; Wiedmer T; Wang WA; Frommelt F; Steurer B; Klimek C; Lindinger S; Osthushenrich T; Garofoli A; Brocchetti S; Bradberry S; Huang J; MacNamara A; Scarabottolo L; Ecker GF; Malarstig A; Superti-Furga G
J Mol Biol; 2024 Jan; 436(2):168383. PubMed ID: 38070861
[TBL] [Abstract][Full Text] [Related]
28. Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability.
Jangid N; Surana P; Salmonos G; Jain V
BMJ Case Rep; 2020 Dec; 13(12):. PubMed ID: 33334757
[TBL] [Abstract][Full Text] [Related]
29. Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
van de Kamp JM; Errami A; Howidi M; Anselm I; Winter S; Phalin-Roque J; Osaka H; van Dooren SJ; Mancini GM; Steinberg SJ; Salomons GS
Clin Genet; 2015 Feb; 87(2):141-7. PubMed ID: 24597975
[TBL] [Abstract][Full Text] [Related]
30. [Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].
Sun WH; Zhuang DY; Wang Y; Xiao FF; Wu MY; Dong XR; Zhang P; Wang HJ; Zhou WH; Wu BB
Zhongguo Dang Dai Er Ke Za Zhi; 2020 May; 22(5):482-487. PubMed ID: 32434645
[TBL] [Abstract][Full Text] [Related]
31. Upregulation of the creatine transporter Slc6A8 by Klotho.
Almilaji A; Sopjani M; Elvira B; Borras J; Dërmaku-Sopjani M; Munoz C; Warsi J; Lang UE; Lang F
Kidney Blood Press Res; 2014; 39(6):516-25. PubMed ID: 25531216
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8.
Kato H; Miyake F; Shimbo H; Ohya M; Sugawara H; Aida N; Anzai R; Takagi M; Okuda M; Takano K; Wada T; Iai M; Yamashita S; Osaka H
Brain Dev; 2014 Aug; 36(7):630-3. PubMed ID: 24045174
[TBL] [Abstract][Full Text] [Related]
35. Downregulation of the creatine transporter SLC6A8 by JAK2.
Shojaiefard M; Hosseinzadeh Z; Bhavsar SK; Lang F
J Membr Biol; 2012 Mar; 245(3):157-63. PubMed ID: 22407360
[TBL] [Abstract][Full Text] [Related]
36. Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.
Mencarelli MA; Tassini M; Pollazzon M; Vivi A; Calderisi M; Falco M; Fichera M; Monti L; Buoni S; Mari F; Engelke U; Wevers RA; Hayek J; Renieri A
Am J Med Genet A; 2011 Oct; 155A(10):2446-52. PubMed ID: 21910234
[TBL] [Abstract][Full Text] [Related]
37. Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.
Betsalel OT; Pop A; Rosenberg EH; Fernandez-Ojeda M; ; Jakobs C; Salomons GS
Mol Genet Metab; 2012 Apr; 105(4):596-601. PubMed ID: 22281021
[TBL] [Abstract][Full Text] [Related]
38. Defining the pathogenicity of creatine deficiency syndrome.
Alcaide P; Merinero B; Ruiz-Sala P; Richard E; Navarrete R; Arias A; Ribes A; Artuch R; Campistol J; Ugarte M; Rodríguez-Pombo P
Hum Mutat; 2011 Mar; 32(3):282-91. PubMed ID: 21140503
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.
El-Kasaby A; Kasture A; Koban F; Hotka M; Asjad HMM; Kubista H; Freissmuth M; Sucic S
Neuropharmacology; 2019 Dec; 161():107572. PubMed ID: 30885608
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]