Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene-Reference-Cited by-同舟云学术

Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene

Published:2013-07 Issue:1 Volume:524 Page:59-64
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Cury G.K.,Matte U.,Artigalás O.,Alegra T.,Velho R.V.,Sperb F.,Burin M.G.,Ribeiro E.M.,Lourenço C.M.,Kim C.A.,Valadares E.R.,Galera M.F.,Acosta A.X.,Schwartz I.V.D.

Funder

Brazilian National Council for Scientific and Technological Development (CNPq)

Rio Grande do Sul Research Foundation (FAPERGS)

CNPq

Hospital de Clínicas de Porto Alegre Research and Event Incentive Fund (FIPE)

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference21 articles.

1. Bovine UDP-N-acetylglucosamine: lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. II Enzymatic characterization and identification of the catalytic subunit;Bao;J. Biol. Chem.,1996

2. When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients;Bargal;Mol. Genet. Metab.,2006

3. Molecular analysis of the GlcNac-1-phosphotransferase;Braulke;J. Inherit. Metab. Dis.,2008

4. I-cell disease;Brooks,2007

5. Molecular order in mucolipidosis II and III nomenclature;Cathey;Am. J. Med. Genet.,2008

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Structure of a truncated human GlcNAc-1-phosphotransferase variant reveals the basis for its hyperactivity;Journal of Biological Chemistry;2024-09

2. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III;Genetics in Medicine;2021-12

3. Mucolipidosis type II and type III: a systematic review of 843 published cases;Genetics in Medicine;2021-11

4. Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene;Journal of Genetic Engineering and Biotechnology;2021-08-03

5. A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients;Journal of Inborn Errors of Metabolism and Screening;2021