These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
241 related articles for article (PubMed ID: 22566635)
1. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Celestino-Soper PB; Violante S; Crawford EL; Luo R; Lionel AC; Delaby E; Cai G; Sadikovic B; Lee K; Lo C; Gao K; Person RE; Moss TJ; German JR; Huang N; Shinawi M; Treadwell-Deering D; Szatmari P; Roberts W; Fernandez B; Schroer RJ; Stevenson RE; Buxbaum JD; Betancur C; Scherer SW; Sanders SJ; Geschwind DH; Sutcliffe JS; Hurles ME; Wanders RJ; Shaw CA; Leal SM; Cook EH; Goin-Kochel RP; Vaz FM; Beaudet AL Proc Natl Acad Sci U S A; 2012 May; 109(21):7974-81. PubMed ID: 22566635 [TBL] [Abstract][Full Text] [Related]
2. Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels. Liepinsh E; Svalbe B; Stelfa G; Grinberga S; Zvejniece L; Schiöth HB; Dambrova M Mol Autism; 2023 Aug; 14(1):29. PubMed ID: 37553674 [TBL] [Abstract][Full Text] [Related]
3. Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis. Beaudet AL Bioessays; 2017 Aug; 39(8):. PubMed ID: 28703319 [TBL] [Abstract][Full Text] [Related]
4. Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. Nava C; Lamari F; Héron D; Mignot C; Rastetter A; Keren B; Cohen D; Faudet A; Bouteiller D; Gilleron M; Jacquette A; Whalen S; Afenjar A; Périsse D; Laurent C; Dupuits C; Gautier C; Gérard M; Huguet G; Caillet S; Leheup B; Leboyer M; Gillberg C; Delorme R; Bourgeron T; Brice A; Depienne C Transl Psychiatry; 2012 Oct; 2(10):e179. PubMed ID: 23092983 [TBL] [Abstract][Full Text] [Related]
5. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Celestino-Soper PB; Shaw CA; Sanders SJ; Li J; Murtha MT; Ercan-Sencicek AG; Davis L; Thomson S; Gambin T; Chinault AC; Ou Z; German JR; Milosavljevic A; Sutcliffe JS; Cook EH; Stankiewicz P; State MW; Beaudet AL Hum Mol Genet; 2011 Nov; 20(22):4360-70. PubMed ID: 21865298 [TBL] [Abstract][Full Text] [Related]
6. Carnitine Inborn Errors of Metabolism. Almannai M; Alfadhel M; El-Hattab AW Molecules; 2019 Sep; 24(18):. PubMed ID: 31500110 [TBL] [Abstract][Full Text] [Related]
7. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. Ziats MN; Comeaux MS; Yang Y; Scaglia F; Elsea SH; Sun Q; Beaudet AL; Schaaf CP Am J Med Genet A; 2015 Sep; 167A(9):2162-7. PubMed ID: 25943046 [TBL] [Abstract][Full Text] [Related]
8. Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region. Ning Z; McLellan AS; Ball M; Wynne F; O'Neill C; Mills W; Quinn JP; Kleinjan DA; Anney RJ; Carmody RJ; O'Keeffe G; Moore T Hum Mol Genet; 2015 Sep; 24(18):5126-41. PubMed ID: 26089202 [TBL] [Abstract][Full Text] [Related]
9. Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle. Longo N Ann Nutr Metab; 2016; 68 Suppl 3():5-9. PubMed ID: 27931018 [TBL] [Abstract][Full Text] [Related]
10. Sites and regulation of carnitine biosynthesis in mammals. Rebouche CJ Fed Proc; 1982 Oct; 41(12):2848-52. PubMed ID: 6813146 [TBL] [Abstract][Full Text] [Related]
11. Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis. van Vlies N; Ofman R; Wanders RJ; Vaz FM FEBS J; 2007 Nov; 274(22):5845-51. PubMed ID: 17944936 [TBL] [Abstract][Full Text] [Related]
12. Investigating the active site of human trimethyllysine hydroxylase. Wang Y; Reddy YV; Al Temimi AHK; Venselaar H; Nelissen FHT; Lenstra DC; Mecinović J Biochem J; 2019 Apr; 476(7):1109-1119. PubMed ID: 30898847 [TBL] [Abstract][Full Text] [Related]
13. Ascorbic acid and carnitine biosynthesis. Rebouche CJ Am J Clin Nutr; 1991 Dec; 54(6 Suppl):1147S-1152S. PubMed ID: 1962562 [TBL] [Abstract][Full Text] [Related]
14. Expression and purification of active, stabilized trimethyllysine hydroxylase. Kazaks A; Makrecka-Kuka M; Kuka J; Voronkova T; Akopjana I; Grinberga S; Pugovics O; Tars K Protein Expr Purif; 2014 Dec; 104():1-6. PubMed ID: 25220864 [TBL] [Abstract][Full Text] [Related]
15. Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis. Vaz FM; Ofman R; Westinga K; Back JW; Wanders RJ J Biol Chem; 2001 Sep; 276(36):33512-7. PubMed ID: 11431483 [TBL] [Abstract][Full Text] [Related]
16. gamma-Butyrobetaine hydroxylase activity is not rate limiting for carnitine biosynthesis in the human infant. Olson AL; Rebouche CJ J Nutr; 1987 Jun; 117(6):1024-31. PubMed ID: 3110383 [TBL] [Abstract][Full Text] [Related]
17. Human carnitine biosynthesis proceeds via (2S,3S)-3-hydroxy-N Leśniak RK; Markolovic S; Tars K; Schofield CJ Chem Commun (Camb); 2016 Dec; 53(2):440-442. PubMed ID: 27965989 [TBL] [Abstract][Full Text] [Related]
18. epsilon-N-trimethyllysine availability regulates the rate of carnitine biosynthesis in the growing rat. Rebouche CJ; Lehman LJ; Olson L J Nutr; 1986 May; 116(5):751-9. PubMed ID: 3084726 [TBL] [Abstract][Full Text] [Related]
19. Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae. Swiegers JH; Vaz FM; Pretorius IS; Wanders RJ; Bauer FF FEMS Microbiol Lett; 2002 Apr; 210(1):19-23. PubMed ID: 12023072 [TBL] [Abstract][Full Text] [Related]
20. Low cardiac content of long-chain acylcarnitines in TMLHE knockout mice prevents ischaemia-reperfusion-induced mitochondrial and cardiac damage. Liepinsh E; Kuka J; Vilks K; Svalbe B; Stelfa G; Vilskersts R; Sevostjanovs E; Goldins NR; Groma V; Grinberga S; Plaas M; Makrecka-Kuka M; Dambrova M Free Radic Biol Med; 2021 Dec; 177():370-380. PubMed ID: 34728372 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]