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Items: 1 to 20 of 98

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 Jr, Goin-Kochel RP, Vaz FM, Beaudet AL.

Proc Natl Acad Sci U S A. 2012 May 22;109(21):7974-81. doi: 10.1073/pnas.1120210109.

2.

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 23;2:e179. doi: 10.1038/tp.2012.102.

3.

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 Jr, Stankiewicz P, State MW, Beaudet AL.

Hum Mol Genet. 2011 Nov 15;20(22):4360-70. doi: 10.1093/hmg/ddr363.

4.

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. doi: 10.1002/ajmg.a.37144. Erratum in: Am J Med Genet A. 2015 Oct;167A(10):2496.

PMID:
25943046
5.

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 15;24(18):5126-41. doi: 10.1093/hmg/ddv231. Erratum in: Hum Mol Genet. 2015 Dec 20;24(25):7450.

PMID:
26089202
6.

Sites and regulation of carnitine biosynthesis in mammals.

Rebouche CJ.

Fed Proc. 1982 Oct;41(12):2848-52.

PMID:
6813146
7.

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.

8.

Ascorbic acid and carnitine biosynthesis.

Rebouche CJ.

Am J Clin Nutr. 1991 Dec;54(6 Suppl):1147S-1152S. Review.

PMID:
1962562
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13.

Development and characterization of an animal model of carnitine deficiency.

Spaniol M, Brooks H, Auer L, Zimmermann A, Solioz M, Stieger B, Krähenbühl S.

Eur J Biochem. 2001 Mar;268(6):1876-87.

15.

Biosynthesis of carnitine in Neurospora crassa.

Kaufman RA, Broquist HP.

J Biol Chem. 1977 Nov 10;252(21):7437-9.

16.

Peroxisome proliferator-activated receptor alpha and enzymes of carnitine biosynthesis in the liver are down-regulated during lactation in rats.

Gutgesell A, Ringseis R, Brandsch C, Stangl GI, Hirche F, Eder K.

Metabolism. 2009 Feb;58(2):226-32. doi: 10.1016/j.metabol.2008.09.018.

PMID:
19154956
17.

Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase.

Vaz FM, van Gool S, Ofman R, Ijlst L, Wanders RJ.

Biochem Biophys Res Commun. 1998 Sep 18;250(2):506-10.

PMID:
9753662
18.

A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families.

Allen-Brady K, Cannon D, Robison R, McMahon WM, Coon H.

Autism Res. 2010 Apr;3(2):47-52. doi: 10.1002/aur.119.

PMID:
20437600
19.

Decreased carnitine biosynthesis in rats with secondary biliary cirrhosis.

Krähenbühl S, Brass EP, Hoppel CL.

Hepatology. 2000 Jun;31(6):1217-23.

PMID:
10827145
20.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991

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