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

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

BALDUCCI, CHIARA;BECCARI, Tommaso
2005

Abstract

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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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11391/24150
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