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

Journal of medical genetics - 1 Apr 2004

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

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Child, Preschool
DNA Mutational Analysis
Exons
Genome, Human
Introns
Mucolipidoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein Subunits

Transferases (Other Substituted Phosphate Groups)

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Identifiers

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

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Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.PMID 15060128Read ↗

Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.Semantic proximity Read ↗

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.Semantic proximity Read ↗

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.Semantic proximity Read ↗

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update onGNPTABandGNPTGmutationsSemantic proximity Read ↗

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.Semantic proximity Read ↗

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.Semantic proximity Read ↗

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.Semantic proximity Read ↗

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

A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.Semantic proximity Read ↗

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.Semantic proximity Read ↗

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)Semantic proximity Read ↗

Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.Semantic proximity Read ↗

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