MUCOPOLYSACCHARIDOSES: FROM GENE DEFECT TO PROTEIN EXPRESSION

Pubblicazioni Scientifiche

• 2000 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

• 2000 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Expression of five iduronate-2-sulfatase site-directed mutations

• 2001 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II

• 2000 HUMAN GENETICS

  Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

• 1999 INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

  Bone marrow transplantation in a Hunter patient with P266H mutation

• 2006 HUMAN GENE THERAPY

  Limited transgene immune response and long-term expression of human alpha-L-iduronidase in young adult mice with mucopolysaccharidosis type I by liver-directed gene therapy

• 1999 PRENATAL DIAGNOSIS

  Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele

• 2001 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Heparan N-sulfatase: In vitro mutagenesis of potential N-glycosylation sites

• 1999 BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

  Maroteaux-Lamy syndrome: five novel mutations and their structural localization