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Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

✍ Scribed by Yuji Okamoto; Hiroshi Takashima; Itsuro Higuchi; Wataru Matsuyama; Masahito Suehara; Yasushi Nishihira; Akihiro Hashiguchi; Ryuki Hirano; Arlene R. Ng; Masanori Nakagawa; Shuji Izumo; Mitsuhiro Osame; Kimiyoshi Arimura

Publisher
Springer
Year
2006
Tongue
English
Weight
487 KB
Volume
7
Category
Article
ISSN
1364-6745

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Molecular characterization of 22 novel U
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients
✍ Barbara Tappino; Nadia A. Chuzhanova; Stefano Regis; Andrea Dardis; Fabio Corsol 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB

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