An evolutionary and structure‐based docking model for glucocerebrosidase–saposin C and glucocerebrosidase–substrate interactions—Relevance for Gaucher disease

Author:

Atrian Sílvia12,López‐Viñas Eduardo3,Gómez‐Puertas Paulino3,Chabás Amparo45,Vilageliu Lluïsa125,Grinberg Daniel125

Affiliation:

1. Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain

2. Institut de Biomedicina de la Universitat de Barcelona (IBUB), 08028 Barcelona, Spain

3. Centro de Biología Molecular “Severo Ochoa” (CSIC‐UAM), Cantoblanco, 28049 Madrid, Spain

4. Institut de Bioquímica Clínica, Hospital Clinic, Corporació Sanitària Clínic, 08028 Barcelona, Spain

5. CIBERER, Instituto de Salud Carlos III, Barcelona, Spain

Publisher

Wiley

Subject

Molecular Biology,Biochemistry,Structural Biology

Reference60 articles.

1. Human Gene Mutation Database (HGMD®): 2003 update

2. Glucocerebrosidase mutations in Gaucher disease;Beutler E;Mol Med,1994

3. The metabolic and molecular bases of inherited disease;Beutler E,2001

4. Gaucher disease: molecular heterogeneity and phenotype‐genotype correlations;Theophilus B;Am J Hum Genet,1989

5. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

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