Lista de obras -

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

artículo científico publicado en 2003

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

artículo científico publicado en 2010

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

artículo científico publicado en 2010

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

artículo científico publicado en 2011

Biochemical characterization and membrane topology of Alg2 from Saccharomyces cerevisiae as a bifunctional alpha1,3- and 1,6-mannosyltransferase involved in lipid-linked oligosaccharide biosynthesis

artículo científico publicado en 2009

Biochemical characterization, membrane association and identification of amino acids essential for the function of Alg11 from Saccharomyces cerevisiae, an alpha1,2-mannosyltransferase catalysing two sequential glycosylation steps in the formation of

artículo científico

Biosynthesis of lipid-linked oligosaccharides in Saccharomyces cerevisiae: Alg13p and Alg14p form a complex required for the formation of GlcNAc(2)-PP-dolichol

artículo científico publicado en 2005

Defects in N-glycosylation induce apoptosis in yeast

artículo científico publicado en 2006

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

artículo científico publicado en 2009

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

artículo científico publicado en 2004

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig

artículo científico publicado en 2002

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

artículo científico publicado en 2012

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

artículo científico publicado en 2012

Kex1 protease is involved in yeast cell death induced by defective N-glycosylation, acetic acid, and chronological aging

artículo científico publicado en 2008

Overexpression of GDP-mannose pyrophosphorylase in Saccharomyces cerevisiae corrects defects in dolichol-linked saccharide formation and protein glycosylation

artículo científico publicado en 2003

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

artículo científico publicado en 2010

The essential endoplasmic reticulum chaperone Rot1 is required for protein N- and O-glycosylation in yeast

artículo científico publicado en 2012

Lista de obras de

A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

Biochemical characterization and membrane topology of Alg2 from Saccharomyces cerevisiae as a bifunctional alpha1,3- and 1,6-mannosyltransferase involved in lipid-linked oligosaccharide biosynthesis

Biochemical characterization, membrane association and identification of amino acids essential for the function of Alg11 from Saccharomyces cerevisiae, an alpha1,2-mannosyltransferase catalysing two sequential glycosylation steps in the formation of

Biosynthesis of lipid-linked oligosaccharides in Saccharomyces cerevisiae: Alg13p and Alg14p form a complex required for the formation of GlcNAc(2)-PP-dolichol

Defects in N-glycosylation induce apoptosis in yeast

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.

Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Kex1 protease is involved in yeast cell death induced by defective N-glycosylation, acetic acid, and chronological aging

Overexpression of GDP-mannose pyrophosphorylase in Saccharomyces cerevisiae corrects defects in dolichol-linked saccharide formation and protein glycosylation

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

The essential endoplasmic reticulum chaperone Rot1 is required for protein N- and O-glycosylation in yeast