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Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis

✍ Scribed by Michele Sbaragli; Lucia Bibi; Maria Gabriela Pittis; Chiara Balducci; Pirkko Heikinheimo; Roberta Ricci; Daniela Antuzzi; Rossella Parini; Luigina Spaccini; Bruno Bembi; Tommaso Beccari

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 109 KB
Volume: 25
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9310

No coin nor oath required. For personal study only.

✦ Synopsis

Mutation analysis performed on six

Italian families with alpha-mannosidosis type II, allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D). Protein residues G801 and H200 are conserved among the four mammalian alphamannosidases cloned to date, human, cattle, cat and mouse. In vitro expression studies demonstrated that both missense mutations expressed no residual alpha-mannosidase activity indicating that they are disease-causing mutations. Modelling into the threedimensional structure revealed that the p.H200L could involved the catalytic mechanism, whereas p.G801D would affect the correct folding of the enzyme.

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