ArticleHuman mutation2019
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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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.
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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.
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Who cites it
43 citing papers in PubMed, 63 citations in OpenAlex.
- 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).Journal of neurology · 2024Trial
- Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).Journal of neurology · 2024Trial
- Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.Neurology. Genetics · 2026Article
- Managing Pompe Disease and Enzyme Replacement Therapy During Pregnancy: Challenges and Considerations.European journal of neurology · 2026Article
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study.Frontiers in nutrition · 2026Article
- Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.Future science OA · 2025Article
- Article
- Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy.DNA and cell biology reports · 2025Article
- Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.Frontiers in molecular biosciences · 2025Article
- Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.Frontiers in genetics · 2025Article
- Article
- [Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo].Revista medica del Instituto Mexicano del Seguro Social · 2024Article
- Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.Human mutation · 2024Article
- Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.International journal of molecular sciences · 2023Article
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- Novel Mutation in the FelineAnimals : an open access journal from MDPI · 2023Article
- Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).Current issues in molecular biology · 2023Article
- Article
- CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions for effects on splicing and protein function and for cross reactive immunologic material (CRIM) status, minor allele frequencies, and molecular analyses. We analyzed 867 patients and 562 GAA variants. Based on their combination with a GAA null allele (i.e., complete deficiency of GAA enzyme activity), 49% of the 422 disease-associated variants could be linked to classic infantile, childhood, or adult phenotypes. Predictions and immunoblot analyses identified 131 CRIM negative and 216 CRIM positive variants. While disease-associated missense variants were found throughout the GAA protein, they were enriched up to seven-fold in the catalytic site. Fifteen percent of disease-associated missense variants were predicted to affect splicing. This should be confirmed using splicing assays. Inclusion of clinical severity rating in the Pompe mutation database provides an invaluable tool for diagnosis, prognosis of disease progression, treatment regimens, and the future development of personalized medicine for Pompe 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.