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Items: 8

1.

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen Ø, Dali CI, Lund AM.

Orphanet J Rare Dis. 2015 Jun 6;10:70. doi: 10.1186/s13023-015-0286-x.

2.

Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.

Yu P, Cui Y, Cai W, Wu H, Xiao X, Shao Q, Ma L, Guo S, Wu N, Jin ZB, Wang Y, Cai T, Sun ZS, Qu J.

Genet Med. 2015 Dec;17(12):971-9. doi: 10.1038/gim.2015.10. Epub 2015 Mar 5.

PMID:
25741867
3.

Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.

Wu X, Pan J, Guo Y, Guo C, Jiang W, Li R, Tang J, Ai Y.

J Pediatr Endocrinol Metab. 2014 May;27(5-6):491-5. doi: 10.1515/jpem-2013-0307.

PMID:
24353136
4.

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.

International Multiple Sclerosis Genetics Consortium, Lill CM, Schjeide BM, Graetz C, Ban M, Alcina A, Ortiz MA, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen JT, Fernández Ó, Gerdes LA, Guillot-Noël L, Hartung HP, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li SC, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes LF, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl UK, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F.

Brain. 2013 Jun;136(Pt 6):1778-82. doi: 10.1093/brain/awt101.

5.

Traffic of human α-mannosidase in plant cells suggests the presence of a new endoplasmic reticulum-to-vacuole pathway without involving the Golgi complex.

De Marchis F, Bellucci M, Pompa A.

Plant Physiol. 2013 Apr;161(4):1769-82. doi: 10.1104/pp.113.214536. Epub 2013 Feb 28.

6.

Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A.

Mutat Res. 2010 Dec 10;694(1-2):13-9. doi: 10.1016/j.mrfmmm.2010.08.006. Epub 2010 Aug 26.

PMID:
20800603
7.

Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties.

Venkatesan M, Kuntz DA, Rose DR.

Protein Sci. 2009 Nov;18(11):2242-51. doi: 10.1002/pro.235.

8.

Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T.

Hum Mutat. 2005 Mar;25(3):320.

PMID:
15712269

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