1 | ALG14, ALG2, CMSAL14, CMSAL2
|
| Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
|
| Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium, Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D.
|
| Brain 136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11.
2013
|
2 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1
|
| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
|
| Haeuptle MA, Hennet T.
|
| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009
|
3 | ALG2, PDCD6, PDCD6IP, TSG101
|
| Penta-EF-hand protein ALG-2 functions as a Ca2+-dependent adaptor that bridges Alix and TSG101.
|
| Okumura M, Ichioka F, Kobayashi R, Suzuki H, Yoshida H, Shibata H, Maki M.
|
| Biochem Biophys Res Commun 386(1):237-41. Epub 2009 Jun 9. 2009
|
4 | ALG2
|
| ALG-2 knockdown in HeLa cells results in G2/M cell cycle phase accumulation and cell death.
|
| Hĝj BR, la Cour JM, Mollerup J, Berchtold MW.
|
| Biochem Biophys Res Commun 378(1):145-8. Epub 2008 Nov 14.
2009
|
5 | ALG2, PDCD6, PDCD6IP
|
| Alix and ALG-2 are involved in tumor necrosis factor receptor 1-induced cell death.
|
| Mahul-Mellier AL, Strappazzon F, Petiot A, Chatellard-Causse C, Torch S, Blot B, Freeman K, Kuhn L, Garin J, Verna JM, Fraboulet S, Sadoul R.
|
| J Biol Chem 283(50):34954-65. Epub 2008 Oct 20. 2008
|
6 | ALG2
|
| The apoptosis linked gene ALG-2 is dysregulated in tumors of various origin and contributes to cancer cell viability.
|
| la Cour JM, Hĝj BR, Mollerup J, Simon R, Sauter G, Berchtold MW.
|
| Mol Oncol 1(4):431-9. Epub 2007 Aug 19.
2008
|
7 | ALG2, SHISA5
|
| The calcium binding protein ALG-2 binds and stabilizes Scotin, a p53-inducible gene product localized at the endoplasmic reticulum membrane.
|
| Draeby I, Woods YL, la Cour JM, Mollerup J, Bourdon JC, Berchtold MW.
|
| Arch Biochem Biophys 467(1):87-94. Epub 2007 Aug 21.
2007
|
8 | ALG2, SEC31A
|
| ALG-2 directly binds Sec31A and localizes at endoplasmic reticulum exit sites in a Ca2+-dependent manner.
|
| Shibata H, Suzuki H, Yoshida H, Maki M.
|
| Biochem Biophys Res Commun 353(3):756-63. Epub 2006 Dec 22.
2007
|
9 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG2A, CDG2B, CDG2E, CDG2G, CDG2H, COG1, COG7, COG8, DPAGT1, DPM1, MGAT2, MOGS, MPDU1, MPI, PMM2
|
| Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
|
| Leroy JG.
|
| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
|
10 | ALG2, SEC31A
|
| The Ca2+-binding protein ALG-2 is recruited to endoplasmic reticulum exit sites by Sec31A and stabilizes the localization of Sec31A.
|
| Yamasaki A, Tani K, Yamamoto A, Kitamura N, Komada M.
|
| Mol Biol Cell 17(11):4876-87. Epub 2006 Sep 6.
2006
|
11 | ALG1, ALG11, ALG2
|
| Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum.
|
| Gao XD, Nishikawa A, Dean N.
|
| Glycobiology 14(6):559-70. Epub 2004 Mar 24.
2004
|
12 | ALG2, CDG1I
|
| A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.
|
| Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, KohlschutterA, von Figura K, Lehle L, Korner C.
|
| J Biol Chem 278(25):22498-505. Epub 2003 Apr 08. 2003
|
13 | ALG2, GCA, PEF1, SRI
|
| Both ALG-2 and peflin, penta-EF-hand (PEF) proteins, are stabilized by dimerization through their fifth EF-hand regions.
|
| Kitaura Y, Satoh H, Takahashi H, Shibata H, Maki M.
|
| Arch Biochem Biophys 399(1):12-8.
2002
|