This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Email citation

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

. 2004 Apr;41(4):e52.

doi: 10.1136/jmg.2003.015222.

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

Affiliations

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

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

A Raas-Rothschild et al. J Med Genet. 2004 Apr.

. 2004 Apr;41(4):e52.

doi: 10.1136/jmg.2003.015222.

Authors

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

Affiliation

¹ Department of Human Genetics, Hadassah University Medical Center, Jerusalem, Israel. annick@md.huji.ac.il

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

No abstract available

PubMed Disclaimer

Similar articles

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T. Tiede S, et al. Am J Med Genet A. 2005 Sep 1;137A(3):235-40. doi: 10.1002/ajmg.a.30868. Am J Med Genet A. 2005. PMID: 16094673
A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
Tiede S, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T. Tiede S, et al. Hum Mutat. 2004 Dec;24(6):535. doi: 10.1002/humu.9293. Hum Mutat. 2004. PMID: 15532026
Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
Liu S, Zhang W, Shi H, Meng Y, Qiu Z. Liu S, et al. Gene. 2014 Feb 10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6. Gene. 2014. PMID: 24316125
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review].
Liu N, Feng Y, Jiang M, Kong XD. Liu N, et al. Zhonghua Er Ke Za Zhi. 2019 Dec 2;57(12):950-954. doi: 10.3760/cma.j.issn.0578-1310.2019.12.010. Zhonghua Er Ke Za Zhi. 2019. PMID: 31795562 Review. Chinese.
Site-1 protease and lysosomal homeostasis.
Velho RV, De Pace R, Klünder S, Di Lorenzo G, Schweizer M, Braulke T, Pohl S. Velho RV, et al. Biochim Biophys Acta Mol Cell Res. 2017 Nov;1864(11 Pt B):2162-2168. doi: 10.1016/j.bbamcr.2017.06.023. Epub 2017 Jul 8. Biochim Biophys Acta Mol Cell Res. 2017. PMID: 28693924 Review.

See all similar articles

Cited by

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.
Kudo M, Brem MS, Canfield WM. Kudo M, et al. Am J Hum Genet. 2006 Mar;78(3):451-63. doi: 10.1086/500849. Epub 2006 Jan 24. Am J Hum Genet. 2006. PMID: 16465621 Free PMC article.
Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells.
Ho CY, Tang NL, Yeung AK, Lau AK, Hui J, Lo AW. Ho CY, et al. J Mol Med (Berl). 2007 Apr;85(4):351-60. doi: 10.1007/s00109-006-0128-3. Epub 2006 Dec 8. J Mol Med (Berl). 2007. PMID: 17160405
Molecular analysis of the GlcNac-1-phosphotransferase.
Braulke T, Pohl S, Storch S. Braulke T, et al. J Inherit Metab Dis. 2008 Apr;31(2):253-7. doi: 10.1007/s10545-008-0862-5. Epub 2008 Apr 15. J Inherit Metab Dis. 2008. PMID: 18425436 Review.
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II.
Petrey AC, Flanagan-Steet H, Johnson S, Fan X, De la Rosa M, Haskins ME, Nairn AV, Moremen KW, Steet R. Petrey AC, et al. Dis Model Mech. 2012 Mar;5(2):177-90. doi: 10.1242/dmm.008219. Epub 2011 Nov 1. Dis Model Mech. 2012. PMID: 22046029 Free PMC article.
Mucolipidosis type III, a series of adult patients.
Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M. Oussoren E, et al. J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27. J Inherit Metab Dis. 2018. PMID: 29704188 Free PMC article.

See all "Cited by" articles

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
Medical
- MedlinePlus Health Information
Molecular Biology Databases
- GlyGen glycoinformatics resource
Miscellaneous
- NCI CPTAC Assay Portal