Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II

BACKGROUND: Beta‐galactosidase‐1 ( GLB1) is a lysosomal hydrolase that is responsible for breaking down specific glycoconjugates, particularly GM1 (monosialotetrahexosylganglioside). Pathogenic variants in GLB1 cause two different lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharid...

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Detalles Bibliográficos
Autores principales: Richter, John E., Zimmermann, Michael T., Blackburn, Patrick R., Mohammad, Ahmed N., Klee, Eric W., Pollard, Laura M., Macmurdo, Colleen F., Atwal, Paldeep S., Caulfield, Thomas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305665/
https://www.ncbi.nlm.nih.gov/pubmed/30187681
http://dx.doi.org/10.1002/mgg3.454

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305665/
https://www.ncbi.nlm.nih.gov/pubmed/30187681
http://dx.doi.org/10.1002/mgg3.454

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