Literature DB >> 15060128

Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.

A Raas-Rothschild1, R Bargal, O Goldman, E Ben-Asher, J E M Groener, A Toutain, E Stemmer, Z Ben-Neriah, H Flusser, F A Beemer, M Penttinen, T Olender, A J J T Rein, G Bach, M Zeigler.   

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Year:  2004        PMID： 15060128      PMCID： PMC1735719          DOI： 10.1136/jmg.2003.015222

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  18 in total

1.  Comparative pathology of murine mucolipidosis types II and IIIC.

Authors:  P Vogel; B J Payne; R Read; W-S Lee; C M Gelfman; S Kornfeld
Journal:  Vet Pathol       Date:  2009-03       Impact factor: 2.221

2.  A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.

Authors:  Sven Müller-Loennies; Giovanna Galliciotti; Katrin Kollmann; Markus Glatzel; Thomas Braulke
Journal:  Am J Pathol       Date:  2010-05-14       Impact factor: 4.307

Review 3.  Molecular analysis of the GlcNac-1-phosphotransferase.

Authors:  T Braulke; S Pohl; S Storch
Journal:  J Inherit Metab Dis       Date:  2008-04-15       Impact factor: 4.982

4.  Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

Authors:  Changsoo Kang; Sheikh Riazuddin; Jennifer Mundorff; Donna Krasnewich; Penelope Friedman; James C Mullikin; Dennis Drayna
Journal:  N Engl J Med       Date:  2010-02-10       Impact factor: 91.245

5.  Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Authors:  Yu Wang; Jun Ye; Wen-Juan Qiu; Lian-Shu Han; Xiao-Lan Gao; Li-Li Liang; Xue-Fan Gu; Hui-Wen Zhang
Journal:  Acta Pharmacol Sin       Date:  2018-06-05       Impact factor: 6.150

6.  Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Authors:  S S Cathey; J G Leroy; T Wood; K Eaves; R J Simensen; M Kudo; R E Stevenson; M J Friez
Journal:  J Med Genet       Date:  2009-07-16       Impact factor: 6.318

7.  Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Authors:  Renata Voltolini Velho; Nataniel Floriano Ludwig; Taciane Alegra; Fernanda Sperb-Ludwig; Nicole Ruas Guarany; Ursula Matte; Ida V D Schwartz
Journal:  J Hum Genet       Date:  2016-03-03       Impact factor: 3.172

8.  Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.

Authors:  Eline van Meel; Stuart Kornfeld
Journal:  Hum Mutat       Date:  2016-04-22       Impact factor: 4.878

9.  Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.

Authors:  Giorgia Di Lorenzo; Renata Voltolini Velho; Dominic Winter; Melanie Thelen; Shiva Ahmadi; Michaela Schweizer; Raffaella De Pace; Kerstin Cornils; Timur Alexander Yorgan; Saskia Grüb; Irm Hermans-Borgmeyer; Thorsten Schinke; Sven Müller-Loennies; Thomas Braulke; Sandra Pohl
Journal:  Mol Cell Proteomics       Date:  2018-05-17       Impact factor: 5.911

10.  Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.

Authors:  Mariko Kudo; Michael S Brem; William M Canfield
Journal:  Am J Hum Genet       Date:  2006-01-24       Impact factor: 11.025
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