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Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling

  • Published:2019-09 Issue: Volume:20 Page:100495
  • ISSN:2214-4269
  • Container-title:Molecular Genetics and Metabolism Reports
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Ou Li,Kim Sarah,Whitley Chester B.,Jarnes-Utz Jeanine R.

Funder

NIH

Lysosomal Disease Network

NCATS

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference82 articles.

1. Pediatric Endocrinology and Inborn Errors of Metabolism;Sarafoglou,2009

2. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein;Callahan;Biochim. Biophys. Acta,1999

3. Infantile gangliosidoses: mapping a timeline of clinical changes;Jarnes Utz;Mol. Genet. Metab.,2017

4. The GM1 and GM2 gangliosidoses: natural history and Progress toward therapy;Regier;Pediatr. Endocrinol. Rev.,2016

5. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis;Maegawa;J. Biol. Chem.,2007

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