ArticleMolecular genetics and metabolism reports2019
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Advancing the frontier of rare disease modeling: a critical appraisal of in silico technologies.NPJ digital medicine · 2025Review
- A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.Orphanet journal of rare diseases · 2025Review
- Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.Molecular genetics and metabolism reports · 2025Article
- Late-infantile GM1 gangliosidosis: A case report.Medicine · 2022Article
- Chitotriosidase as a biomarker for gangliosidoses.Molecular genetics and metabolism reports · 2021Article
- A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.Metabolic brain disease · 2021Article
- A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.Gene therapy · 2020Article
- Article
- Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides. Phenotypes of gangliosidoses range from infantile, late-infantile, juvenile, and to the adult form. The genotype-phenotype correlation is essential for prognosis and clinical care planning for patients with a gangliosidosis condition. Previously, we have developed a method to establish the genotype-phenotype correlation of another lysosomal disease, mucopolysaccharidosis type I, with in silico tools. This same method was applied to analyze the genotype and phenotype of 38 patients diagnosed with a gangliosidosis disease in the United States. Out of 40 mutations identified, 3 were novel, including p.Tyr192His and p.Phe556Ser of the
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