ArticleHuman genetics2003
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.Molecular genetics and metabolism · 2020Pooled it
- Infantile GM1 Gangliosidosis with Epilepsy Associated with a Same-Codon GLB1 Variant (c.808T>G/c.808T>C).Genes · 2026Article
- Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors.PloS one · 2023Article
- Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?JIMD reports · 2021Article
- Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an UnbiasedCells · 2021Article
- GM1 Gangliosidosis: Mechanisms and Management.The application of clinical genetics · 2021Review
- The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.Metabolic brain disease · 2017Article
- Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.BMC medical genetics · 2017Article
- Epidemiology of mucopolysaccharidoses.Molecular genetics and metabolism · 2017Article
- Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.Human mutation · 2014Review
- Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Molecular genetics and metabolism · 2014Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.Biochimica et biophysica acta · 2011Article
- Lysosomal storage disorders: molecular basis and laboratory testing.Human genomics · 2011Review
- Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.The American journal of pathology · 2005Article
- A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.Human genetics · 2005Article
- Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis.Journal of cellular and molecular medicineArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration. Sequencing analysis and familial restriction studies revealed that the maternal allele of this patient carried the L436F polymorphism in cis with the known R201C mutation. The new mutation R68W was identified in his paternal allele. Since the GLB1 activity of the patient's leukocytes was very low and compatible with both the type-I and the type-II form of the disease, the potential impact of each mutation was investigated by expression studies in COS1 cells, and Western blots. Expression study of the R68W mutated allele resulted in no GLB1 activity. Transfection with a vector carrying the R201C mutation gave rise to a residual GLB1 activity, which, interestingly, was severely reduced in transfection with the L436F/R201C allele. These expression studies, together with co-transfection experiments, suggest that the R201C/L436F GLB1 "complex allele" leads to this patient's clinical and biochemical findings. The type-II phenotype of the disease is subdivided into late infantile and juvenile forms. The clinical and molecular characterization of this patient as late-infantile GM1 gangliosidosis is in keeping with a clear-cut division between the two sub forms of the type-II phenotype. The modulating role of the L436F polymorphism should be stressed as a cause of this patient's condition. This model suggests that the combination of missense mutations or polymorphisms should be evaluated when diagnosing inherited genetic disorders.
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Registered trials
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