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

Identification and molecular characteriz

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma

✍ Emanuele Persichetti; Nadia A. Chuzhanova; Andrea Dardis; Barbara Tappino; Sandr 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 333 KB 👁 1 views

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