Gene · 2548
Papers2,709
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
1 to 20 of 2,709
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Identification of novel and known variants in GAA, MYH6, NEXN, ATA3A, RHBDF1, and ACTA1 genes in coronary artery disease patients by Whole-exome sequencing. | Front Cardiovasc Med | 2026 | 42760933 | PubTator, text mining | PubMed |
| Screening for potential late-onset Pompe disease patients among individuals with suspected sleep apnea: A prospective, multicenter observational Cohort Study in Japan (PSSAP-J Study). | Sleep Breath | 2026 | 42745077 | PubTator, text mining | PubMed |
| Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease. | Neurol Genet | 2026 | 42701350 | PubTator, text mining | PubMed |
| Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina. | Mol Genet Metab | 2026 | 42691781 | PubTator, text mining | PubMed |
| Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay. | Mol Genet Metab | 2026 | 42679457 | PubTator, text mining | PubMed |
| Multi-omics analysis identifies GAA as an independent poor prognostic biomarker and candidate therapeutic target in angioimmunoblastic T-cell lymphoma. | Front Immunol | 2026 | 42643572 | PubTator, text mining | PubMed |
| AAV9-mediated GAA gene therapy following enzyme replacement therapy discontinuation in children with infantile-onset Pompe disease. | EClinicalMedicine | 2026 | 42541184 | PubTator, text mining | PubMed |
| Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement. | Orphanet J Rare Dis | 2026 | 42538546 | PubTator, text mining | PubMed |
| A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies. | Int J Mol Sci | 2026 | 42449999 | PubTator, text mining | PubMed |
| Phytochemical profiling, network pharmacology, and molecular dynamics simulations of Sinularia levi metabolites as potential α-glucosidase inhibitors in metabolic syndrome. | RSC Adv | 2026 | 42444678 | PubTator, text mining | PubMed |
| Circulating acidic α-glucosidase as a potential biomarker for lactate-related immunometabolism in ischemic stroke. | Brain Res | 2026 | 42323125 | PubTator, text mining | PubMed |
| High prevalence of GAA c.[752C > T;761C > T] haplotype complicates high-risk screening for Pompe disease in the Chinese population. | Mol Genet Metab | 2026 | 42320386 | PubTator, text mining | PubMed |
| Pathogenic variation distribution of ACMG 3.2 list genes in 11 ethnic groups in southwest China. | BMC Genomics | 2026 | 42288740 | PubTator, text mining | PubMed |
| TRPML1 agonists synergize with enzyme replacement therapy in fibroblasts from Pompe disease patients. | J Transl Med | 2026 | 42277847 | PubTator, text mining | PubMed |
| A young woman with dramatic pulmonary hypertension and respiratory failure: a case report. | Front Med (Lausanne) | 2026 | 42239966 | PubTator, text mining | PubMed |
| Expanding the Utility of Exome Sequencing in Preventive and Population Genetics. | Am J Med Genet A | 2026 | 42212615 | PubTator, text mining | PubMed |
| GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia. | Clin Genet | 2026 | 42204984 | PubTator, text mining | PubMed |
| Sensory neuronopathy secondary to gene therapy with AT845 for Pompe disease. | Neuromuscul Disord | 2026 | 42142433 | PubTator, text mining | PubMed |
| [Clinical and genetic characteristics of infantile-onset Pompe disease and long-term efficacy of enzyme replacement therapy]. | Zhonghua Er Ke Za Zhi | 2026 | 42135242 | PubTator, text mining | PubMed |
| Clinical, pathological and genetic features as well as follow-up of 68 patients with late-onset Pompe disease: a single-center retrospective study. | Front Nutr | 2026 | 42131243 | PubTator, text mining | PubMed |
gene-search-2026-11-11-0.2.0
Sources 12
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
- GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
- HGNCCC0
- NCBI GenePublic domain (US government)
- NIH's project files and grant-paper linksPublic domain
- Open TargetsCC0 1.0
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
- GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
- HGNCCC0: https://www.genenames.org/about/license/
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
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