| 1 | ALG13, EIEE36
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| Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
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| Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G.
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| Clin Genet 89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30.
2016
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| 2 | ALG13, MRX80
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| X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
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| Bissar-Tadmouri N, Donahue WL, Al-Gazali L, Nelson SF, Bayrak-Toydemir P, Kantarci S.
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| Am J Med Genet A 164A(1):164-9.
2014
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| 3 | ALG13, CDG1S, ECA5, GABRB3
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| De novo mutations in epileptic encephalopathies.
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| Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.
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| Nature 501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
2013
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| 4 | ALG13, CDG1S
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| Diagnostic exome sequencing in persons with severe intellectual disability.
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| de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE.
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| N Engl J Med 367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.
2012
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| 5 | ALG13, CDG1S
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| Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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| Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ.
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| Hum Mol Genet 21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5.
2012
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| 6 | ALG13, ALG14
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| Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis.
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| Lu J, Takahashi T, Ohoka A, Nakajima K, Hashimoto R, Miura N, Tachikawa H, Gao XD.
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| Glycobiology 22(4):504-16. doi: 10.1093/glycob/cwr162. Epub 2011 Nov 7.
2012
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| 7 | ALG13, ALG14
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| Interaction between the C termini of Alg13 and Alg14 mediates formation of the active UDP-N-acetylglucosamine transferase complex.
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| Gao XD, Moriyama S, Miura N, Dean N, Nishimura S.
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| J Biol Chem 283(47):32534-41. doi: 10.1074/jbc.M804060200. Epub 2008 Sep 22.
2008
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| 8 | ALG13, ALG14
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| Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.
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| Averbeck N, Keppler-Ross S, Dean N.
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| J Biol Chem 282(40):29081-8. Epub 2007 Aug 8.
2007
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| 9 | ALG13, ALG14
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| Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.
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| Gao XD, Tachikawa H, Sato T, Jigami Y, Dean N.
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| J Biol Chem 280(43):36254-62. Epub 2005 Aug 12. 2005
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