Literature DB >> 31775018

Defining a new immune deficiency syndrome: MAN2B2-CDG.

Jan Verheijen1, Sunnie Y Wong2, Jared H Rowe3, Kimiyo Raymond4, Jennifer Stoddard5, Ottavia M Delmonte6, Marita Bosticardo6, Kerry Dobbs6, Julie Niemela5, Enrica Calzoni6, Sung-Yun Pai7, Uimook Choi6, Yasuhiro Yamazaki6, Anne Marie Comeau8, Erin Janssen3, Lauren Henderson3, Melissa Hazen3, Gerard Berry9, Sergio D Rosenzweig5, Hasan Hamdan Aldhekri10, Miao He11, Luigi D Notarangelo12, Eva Morava13.   

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Year:  2019        PMID： 31775018      PMCID： PMC7062559          DOI： 10.1016/j.jaci.2019.11.016

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  9 in total

1.  Characterization of a human core-specific lysosomal {alpha}1,6-mannosidase involved in N-glycan catabolism.

Authors:  Chaeho Park; Lu Meng; Leslie H Stanton; Robert E Collins; Steven W Mast; Xiaobing Yi; Heather Strachan; Kelley W Moremen
Journal:  J Biol Chem       Date:  2005-08-22       Impact factor: 5.157

Review 2.  Recognizable phenotypes in CDG.

Authors:  Carlos R Ferreira; Ruqaia Altassan; Dorinda Marques-Da-Silva; Rita Francisco; Jaak Jaeken; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2018-04-13       Impact factor: 4.982

3.  Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.

Authors:  Elina Kuokkanen; Hilde Monica Frostad Riise Stensland; Wesley Smith; Elisabeth Kjeldsen Buvang; Lam Van Nguyen; Øivind Nilssen; Pirkko Heikinheimo
Journal:  Hum Mol Genet       Date:  2011-04-19       Impact factor: 6.150

4.  Human beta-mannosidase deficiency.

Authors:  D A Wenger; E Sujansky; P V Fennessey; J N Thompson
Journal:  N Engl J Med       Date:  1986-11-06       Impact factor: 91.245

Review 5.  Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes.

Authors:  Tadashi Suzuki
Journal:  Mol Aspects Med       Date:  2016-05-26

Review 6.  CDG and immune response: From bedside to bench and back.

Authors:  Carlota Pascoal; Rita Francisco; Tiago Ferro; Vanessa Dos Reis Ferreira; Jaak Jaeken; Paula A Videira
Journal:  J Inherit Metab Dis       Date:  2019-06-25       Impact factor: 4.982

Review 7.  Lysosomal metabolism of glycoproteins.

Authors:  Bryan Winchester
Journal:  Glycobiology       Date:  2005-01-12       Impact factor: 4.313

8.  amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.

Authors:  Hilde Monica Frostad Riise Stensland; Gabrio Frantzen; Elina Kuokkanen; Elisabeth Kjeldsen Buvang; Helle Bagterp Klenow; Pirkko Heikinheimo; Dag Malm; Øivind Nilssen
Journal:  Hum Mutat       Date:  2015-04-09       Impact factor: 4.878

Review 9.  Characterizing glycosylation pathways.

Authors:  K J Yarema; C R Bertozzi
Journal:  Genome Biol       Date:  2001-05-01       Impact factor: 13.583
  9 in total
  3 in total

1.  Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Authors:  Stuart G Tangye; Waleed Al-Herz; Aziz Bousfiha; Charlotte Cunningham-Rundles; Jose Luis Franco; Steven M Holland; Christoph Klein; Tomohiro Morio; Eric Oksenhendler; Capucine Picard; Anne Puel; Jennifer Puck; Mikko R J Seppänen; Raz Somech; Helen C Su; Kathleen E Sullivan; Troy R Torgerson; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2022-06-24       Impact factor: 8.542

2.  The immunologic features of patients with early-onset and polyautoimmunity.

Authors:  Kacie J Hoyt; Talal A Chatila; Luigi D Notarangelo; Melissa M Hazen; Erin Janssen; Lauren A Henderson
Journal:  Clin Immunol       Date:  2019-12-12       Impact factor: 3.969

3.  Divergence in alternative polyadenylation contributes to gene regulatory differences between humans and chimpanzees.

Authors:  Briana E Mittleman; Sebastian Pott; Shane Warland; Kenneth Barr; Claudia Cuevas; Yoav Gilad
Journal:  Elife       Date:  2021-02-17       Impact factor: 8.140
  3 in total

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