PMC Links for Gene (Select 4125) - PMC

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Select item 44653001.

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

Line Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, Flemming Wibrand, Helle Bagterp Klenow, Michael Beck, Yasmina Amraoui, Laila Arash, Jens Fogh, Øivind Nilssen, Christine I Dali, Allan Meldgaard Lund

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

PMCID:: PMC4465300

Abstract Article PDF–2.5M

Select item 36134542.

Traffic of Human α-Mannosidase in Plant Cells Suggests the Presence of a New Endoplasmic Reticulum-to-Vacuole Pathway without Involving the Golgi Complex

Francesca De Marchis, Michele Bellucci, Andrea Pompa

Plant Physiol. 2013 Apr; 161(4): 1769–1782. Published online 2013 Feb 28. doi: 10.1104/pp.113.214536

PMCID:: PMC3613454

Abstract Article PDF–1.1M

Select item 16852563.

Electrophoretic abnormalities of lysosomal enzymes in mucolipidosis fibroblast lines.

M J Champion, T B Shows

Am J Hum Genet. 1977 Mar; 29(2): 149–163.

PMCID:: PMC1685256

Summary Page Browse PDF–3.2M

Select item 13777054.

Spectrum of mutations in alpha-mannosidosis.

T Berg, H M Riise, G M Hansen, D Malm, L Tranebjaerg, O K Tollersrud, O Nilssen

Am J Hum Genet. 1999 Jan; 64(1): 77–88. doi: 10.1086/302183

PMCID:: PMC1377705

Summary PDF–257K

Select item 13774815.

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

Y Gotoda, N Wakamatsu, H Kawai, Y Nishida, T Matsumoto

Am J Hum Genet. 1998 Oct; 63(4): 1015–1024. doi: 10.1086/302048

PMCID:: PMC1377481

Abstract

Select item 11726256.

Characterization of human liver alpha-D-mannosidase purified by affinity chromatography.

N C Phillips, D Robinson, B G Winchester

Biochem J. 1976 Mar 1; 153(3): 579–587. doi: 10.1042/bj1530579

PMCID:: PMC1172625

Summary Page Browse PDF–1.3M

Select item 11363697.

Partial sequence of the purified protein confirms the identity of cDNA coding for human lysosomal alpha-mannosidase B.

C Emiliani, S Martino, J L Stirling, B Maras, A Orlacchio

Biochem J. 1995 Jan 15; 305(Pt 2): 363–366. doi: 10.1042/bj3050363

PMCID:: PMC1136369

Summary Page Browse PDF–722K

Select item 27882798.

Human lysosomal α-mannosidases exhibit different inhibition and metal binding properties

Meenakshi Venkatesan, Douglas A Kuntz, David R Rose

Protein Sci. 2009 Nov; 18(11): 2242–2251. Published online 2009 Aug 31. doi: 10.1002/pro.235

PMCID:: PMC2788279

Abstract Article PDF–345K

Select item 39777179.

Genome-Wide Study of Percent Emphysema on Computed Tomography in the General Population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study

Ani Manichaikul, Eric A. Hoffman, Joanna Smolonska, Wei Gao, Michael H. Cho, Heather Baumhauer, Matthew Budoff, John H. M. Austin, George R. Washko, J. Jeffrey Carr, Joel D. Kaufman, Tess Pottinger, Charles A. Powell, Cisca Wijmenga, Pieter Zanen, Harry J. M. Groen, Dirkje S. Postma, Adam Wanner, Farshid N. Rouhani, Mark L. Brantly, Rhea Powell, Benjamin M. Smith, Dan Rabinowitz, Leslie J. Raffel, Karen D. Hinckley Stukovsky, James D. Crapo, Terri H. Beaty, John E. Hokanson, Edwin K. Silverman, Josée Dupuis, George T. O’Connor, H. Marike Boezen, Stephen S. Rich, R. Graham Barr

Am J Respir Crit Care Med. 2014 Feb 15; 189(4): 408–418. Published online 2014 Feb 15. doi: 10.1164/rccm.201306-1061OC

PMCID:: PMC3977717

Abstract Article PDF–1.1M

Select item 367346310.

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

International Multiple Sclerosis Genetics Consortium, Christina M. Lill, Brit-Maren M. Schjeide, Christiane Graetz, Maria Ban, Antonio Alcina, Miguel A. Ortiz, Jennifer Pérez, Vincent Damotte, David Booth, Aitzkoa Lopez de Lapuente, Linda Broer, Marcel Schilling, Denis A. Akkad, Orhan Aktas, Iraide Alloza, Alfredo Antigüedad, Rafa Arroyo, Paul Blaschke, Mathias Buttmann, Andrew Chan, Alastair Compston, Isabelle Cournu-Rebeix, Thomas Dörner, Joerg T. Epplen, Óscar Fernández, Lisa-Ann Gerdes, Léna Guillot-Noël, Hans-Peter Hartung, Sabine Hoffjan, Guillermo Izquierdo, Anu Kemppinen, Antje Kroner, Christian Kubisch, Tania Kümpfel, Shu-Chen Li, Ulman Lindenberger, Peter Lohse, Catherine Lubetzki, Felix Luessi, Sunny Malhotra, Julia Mescheriakova, Xavier Montalban, Caroline Papeix, Lidia F. Paredes, Peter Rieckmann, Elisabeth Steinhagen-Thiessen, Alexander Winkelmann, Uwe K. Zettl, Rogier Hintzen, Koen Vandenbroeck, Graeme Stewart, Bertrand Fontaine, Manuel Comabella, Elena Urcelay, Fuencisla Matesanz, Stephen Sawcer, Lars Bertram, Frauke Zipp

Brain. 2013 Jun; 136(6): 1778–1782. Published online 2013 Jun 4. doi: 10.1093/brain/awt101

PMCID:: PMC3673463

Abstract Article PDF–227K

Select item 365847411.

Glycosylation Site-Specific Analysis of HIV Envelope Proteins (JR-FL and CON-S) Reveals Major Differences in Glycosylation Site Occupancy, Glycoform Profiles, and Antigenic Epitopes’ Accessibility

Eden P. Go, Janet Irungu, Ying Zhang, Dilusha S. Dalpathado, Hua-Xin Liao, Laura L. Sutherland, S. Munir Alam, Barton F. Haynes, Heather Desaire

J Proteome Res. Author manuscript; available in PMC 2013 May 20.

Published in final edited form as: J Proteome Res. 2008 Apr; 7(4): 1660–1674. Published online 2008 Mar 11. doi: 10.1021/pr7006957

PMCID:: PMC3658474

Abstract Article PDF–6.1M

Select item 244148212.

Env length and N-linked glycosylation following transmission of Human Immunodeficiency Virus Type 1 subtype B viruses

Yi Liu, Marcel E. Curlin, Kurt Diem, Hong Zhao, Ananta K. Ghosh, Haiying Zhu, Amanda S. Woodward, Janine Maenza, Claire Stevens, Joanne Stekler, Ann C. Collier, Indira Genowati, Wenjie Deng, Rafael Zioni, Lawrence Corey, Tuofu Zhu, James I. Mullins

Virology. Author manuscript; available in PMC 2009 May 10.

Published in final edited form as: Virology. 2008 May 10; 374(2): 229–233. Published online 2008 Mar 7. doi: 10.1016/j.virol.2008.01.029