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PubMed (GeneRIF) for id: 79796

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Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature.
Himmelreich N, Dimitrov B, Zielonka M, Hüllen A, Hoffmann GF, Juenger H, Müller H, Lorenz I, Busse B, Marschall C, Schlüter G, Thiel C. Himmelreich N, et al. Mol Genet Metab. 2022 Aug;136(4):274-281. doi: 10.1016/j.ymgme.2022.06.005. Epub 2022 Jun 26. Mol Genet Metab. 2022. PMID: 35839600 Review.
ALG9 Mutation Carriers Develop Kidney and Liver Cysts.
Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S; Regeneron Genetics Center; Torres VE, Somlo S, Mirshahi T. Besse W, et al. J Am Soc Nephrol. 2019 Nov;30(11):2091-2102. doi: 10.1681/ASN.2019030298. Epub 2019 Aug 8. J Am Soc Nephrol. 2019. PMID: 31395617 Free PMC article.
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.
Maratha A, Stockmann H, Coss KP, Estela Rubio-Gozalbo M, Knerr I, Fitzgibbon M, McVeigh TP, Foley P, Moss C, Colhoun HO, van Erven B, Stephens K, Doran P, Rudd P, Treacy E. Maratha A, et al. Eur J Hum Genet. 2016 Jul;24(7):976-84. doi: 10.1038/ejhg.2015.254. Epub 2016 Jan 6. Eur J Hum Genet. 2016. PMID: 26733289 Free PMC article.
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G. Tham E, et al. Eur J Hum Genet. 2016 Feb;24(2):198-207. doi: 10.1038/ejhg.2015.91. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966638 Free PMC article.