1 | ALG1, ALG3, ALG6, CDG1C, CDG1D, CDG1K, CDG1U, DPM2
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| Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
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| Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J.
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| JIMD Rep IMD Rep. 2015 Oct 10. [Epub ahead of print]
2015
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2 | ALG1, ALG3, ALG6, ALG8, ALG9, B4GALT1, CDG1C, CDG1D, CDG1H, CDG1K, CDG1L, CDG1U, CDG2E, CDG2F, CDG2G, CDG2H, CDG2I, CDG2M, COG1, COG5, COG7, COG8, DPM2, SLC35A2
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| Congenital disorders of glycosylation with emphasis on cerebellar involvement.
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| Barone R, Fiumara A, Jaeken J.
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| Semin Neurol 34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Review. 2014
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3 | CDG1U, DPM2
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| DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
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| Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ.
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| Ann Neurol 72(4):550-8. doi: 10.1002/ana.23632.
2012
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4 | DPM1, DPM2, DPM3
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| DPM1, the catalytic subunit of dolichol-phosphate mannose synthase, is tethered to and stabilized on the endoplasmic reticulum membrane by DPM3.
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| Ashida H, Maeda Y, Kinoshita T.
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| J Biol Chem 281(2):896-904. Epub 2005 Nov 9.
2006
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5 | DPM2
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| The divergent 5' ends of DPM2 mRNAs originate from the alternative splicing of two adjacent introns: characterization of the hamster DPM2 gene.
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| Pu L, Scocca JR, Walker BK, Krag SS.
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| Biochem Biophys Res Commun 312(3):817-24.
2003
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6 | DPM1, DPM2, DPM3
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| Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.
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| Maeda Y, Tanaka S, Hino J, Kangawa K, Kinoshita T.
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| EMBO J 19(11):2475-82. 2000
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7 | DPM2
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| Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2.
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| Watanabe R, Murakami Y, Marmor MD, Inoue N, Maeda Y, Hino J, Kangawa K, Julius M, Kinoshita T.
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| EMBO J 19(16):4402-11. 2000
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8 | DPM2
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| DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells:correct subcellular localization and stabilization of DPM1, and binding ofdolichol phosphate.
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| Maeda Y, Tomita S, Watanabe R, Ohishi K, Kinoshita T.
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| EMBO J 17(17):4920-9. 1998
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9 | DPM2, SLC35A1
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| The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and theirexpression.
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| Lennon G, Auffray C, Polymeropoulos M, Soares MB.
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| Genomics 33(1):151-2. No abstract available. 1996
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