ArticleMetabolic brain disease2018
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.
Article in Metabolic brain disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.Molecular genetics and metabolism · 2020Pooled it
- AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.The New England journal of medicine · 2026Trial
- Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene.Frontiers in pediatrics · 2025Article
- GM1 gangliosidosis type II: Results of a 10-year prospective study.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Observational
- GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.medRxiv : the preprint server for health sciences · 2024Article
- Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.Children (Basel, Switzerland) · 2023Article
- Facial features of lysosomal storage disorders.Expert review of endocrinology & metabolism · 2022Article
- Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.Journal of pediatric genetics · 2022Article
- A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy.Experimental biology and medicine (Maywood, N.J.) · 2021Article
- Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?JIMD reports · 2021Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by the deficiency of β-galactosidase activity, precisely due to mutations in the GLB1 gene. To explore the clinical and molecular characteristics of GM1 gangliosidosis patients from China, GLB1 gene were analyzed in 11 probands with GM1 gangliosidosis by exploiting direct Sanger-sequencing. Among them, five patients were classified as the infantile type and the remaining six as the late-infantile or juvenile type. In these probands, eight novel mutations p.Y50N, p.Y237C, p.S267F, p.G453R, p.K578 N, c.618delC, c.475_478delGACA and c.1979_1980insG have been identified. Among them, three novel missense mutations p.Y50N, p.S267F and p.G453R were transiently transfected in COS-7 cells by plasmid system for functional verification. In vitro GLB1 activities carrying the aforesaid missense mutants p.Y50N, p.S267F and p.G453R were 0.11%, 0 and 0.55% of wild-type, respectively. Mutation c.495_497delTCT and p.S149F accounted for 22.7 and 13.6% of the mutant alleles, respectively. Our results expand the spectrum of GLB1 gene, provide new insights into the clinical and molecular characteristics of GM1 gangliosidosis in China.
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