ArticleBiochimica et biophysica acta2011
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Article in Biochimica et biophysica acta, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04624789 (Eight At One Stroke), which is not on this map. Cited by 66 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses
Who cites it
66 citing papers in PubMed, 1 synthesis or guideline pooled it, 156 citations in OpenAlex.
- The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.Molecular genetics and metabolism · 2020Pooled it
- Impact of Sinbaglustat on Neurons of the Medial Nucleus of the Trapezoid Body in a Murine Model of Human GJournal of clinical medicine · 2026Article
- Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?JIMD reports · 2026Article
- Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Targeted proteomics reveals immune protein patterns in serum from patients with calcific aortic stenosis.iScience · 2025Article
- Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine.Current issues in molecular biology · 2025Review
- Synthesis of an N-Galactosyl Norbornane Aziridine and its Potent Mixed Inhibition of Aspergillus oryzae β-Galactosidase.Chembiochem : a European journal of chemical biology · 2025Article
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- The Critical Role of Vitamin D Supplementation for Skeletal and Neurodevelopmental Outcomes in Preterm Neonates.Nutrients · 2025Review
- Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.Molecular genetics and metabolism reports · 2025Article
- Editorial: Role of neuroimaging in the diagnosis and treatment of rare diseases.Frontiers in neuroimaging · 2025Article
- 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
- Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.Children (Basel, Switzerland) · 2024Review
- Congenital Heart Malformations Masked by Infantile Gangliosidosis-Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies.Diagnostics (Basel, Switzerland) · 2024Article
- GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.medRxiv : the preprint server for health sciences · 2024Article
- From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis.Free neuropathology · 2023Article
- Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.Journal of personalized medicine · 2022Review
- β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy.JIMD reports · 2022Article
- Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.Biomedicines · 2022Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 14 institutions in 3 countries.
Funding
Abstract
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. Clinical features of the patients were collected and compared with those in literature. In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models. The analysed cohort includes remarkable cases. One patient with GM1 gangliosidosis had a triple X syndrome. One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. Molecular analysis showed 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation. We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses. Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations. Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.