β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded by HEXA and HEXB genes, respectively. Mutations in these genes lead to Tay Sachs or Sandhoff diseases, which are neurodegenerative disorders c...

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Autores:

Espejo Mojica, Angela Johana; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia
Mosquera, Angela Rocío; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia
Rodríguez-López, Edwin Alexander; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia Chemistry Department, School of Science, Pontificia Universidad Javeriana, Bogotá, Colombia
Díaz, Dennis Johana; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia
Betrán, Laura Milena; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia
Hernández, Francy Liliana; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia
Alméciga Díaz, Carlos Javier; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia
Barrera, Luis Alejandro; Institute for the Study of Inborn Errors of Metabolism, School of Sciences, Pontificia Universidad Javeriana. Bogotá, Colombia Clínica de Errores Innatos del Metabolismo. Hospital Universitario San Ignacio. Bogotá, Colombia.

Tipo de recurso:

Article of journal

Fecha de publicación:

2016

Institución:

Pontificia Universidad Javeriana

Repositorio:

Repositorio Universidad Javeriana

Idioma:

eng

OAI Identifier:

oai:repository.javeriana.edu.co:10554/31211

Acceso en línea:

http://revistas.javeriana.edu.co/index.php/scientarium/article/view/15736
http://hdl.handle.net/10554/31211

Palabra clave:

Biotechnology
β-N-acetylhexosaminidases; characterization; Pichia pastoris; recombinant hexosaminidases; Sandhoff disease; Tay Sachs disease.

Rights

openAccess

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