Mucolipidosis type III (MLIII) is an autosomal recessive disorder affecting lysosomal hydrolase trafficking. In a study of 10 patients from seven families with a clinical phenotype and enzymatic diagnosis of MLIII, six novel GNPTG gene mutations were identified. These included missense (p.T286M) and
Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III
✍ Scribed by Maryam Zarghooni; Sarma S.R. Dittakavi
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 183 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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Mutational analysis of the GNPTAB gene was performed in 46 apparently unrelated patients with mucolipidosis IIα/β or IIIα/β, characterized by the mistargeting of multiple lysosomal enzymes as a consequence of a UDP-GlcNAc-1-phosphotransferase defect. The GNPTAB mutational spectrum comprised 25 disti
## Mucolipidosis type II (ML II; I-cell disease) and mucolipidosis III (ML III; pseudo Hurler polydystrophy) are autosomal recessively inherited disorders caused by a defective Nacetylglucosamine 1-phosphotransferase (phosphotransferase). The formation of mannose 6phosphate markers in soluble lysos
## Communicated by Mark H. Paalman Mucolipidosis types II and III are autosomal recessive inherited diseases caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1 phosphotransferase (GlcNAc-phosphotransferase), which adds phosphate to function as a recognition marker for the uptake
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