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.
161 to 180 of 2,709
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| First-in-Human Evaluation of Safety, Pharmacokinetics and Muscle Glycogen Lowering of a Novel Glycogen Synthase 1 Inhibitor for the Treatment of Pompe Disease. | Clin Pharmacol Ther | 2024 | 39439155 | PubTator, text mining | PubMed |
| Lanthanide conjugate Pr-MPO elicits anti-cancer activity by targeting lysosomal machinery and inducing zinc-dependent cataplerosis. | Cell Commun Signal | 2024 | 39427179 | PubTator, text mining | PubMed |
| Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report. | J Med Case Rep | 2024 | 39375771 | PubTator, text mining | PubMed |
| Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation. | Mol Genet Metab Rep | 2024 | 39314994 | PubTator, text mining | PubMed |
| Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study. | Int J Mol Sci | 2024 | 39273088 | PubTator, text mining | PubMed |
| Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports. | Medicine (Baltimore) | 2024 | 39213226 | PubTator, text mining | PubMed |
| Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy. | Mol Genet Metab Rep | 2024 | 39161458 | PubTator, text mining | PubMed |
| Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy. | Mol Diagn Ther | 2024 | 39134822 | PubTator, text mining | PubMed |
| [Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo]. | Rev Med Inst Mex Seguro Soc | 2024 | 39110956 | PubTator, text mining | PubMed |
| Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. | Neurogenetics | 2024 | 38976084 | PubTator, text mining | PubMed |
| Renshen Yangrong decoction for secondary malaise and fatigue: network pharmacology and Mendelian randomization study. | Front Nutr | 2024 | 38966421 | PubTator, text mining | PubMed |
| Real-world data of in-hospital administration of alglucosidase alfa in French patients with Pompe disease: results from the National Claims Database. | J Neurol | 2024 | 38963441 | PubTator, text mining | PubMed |
| Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease. | Mol Genet Genomic Med | 2024 | 38958145 | PubTator, text mining | PubMed |
| Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells. | Mol Ther Nucleic Acids | 2024 | 38948331 | PubTator, text mining | PubMed |
| Generation of two induced pluripotent stem cell lines (HIMRi006-A and HIMRi007-A) from Pompe patients with infantile and late disease onset. | Stem Cell Res | 2024 | 38896971 | PubTator, text mining | PubMed |
| Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia. | J Hum Genet | 2024 | 38866925 | PubTator, text mining | PubMed |
| Compartmentalization proteomics revealed endolysosomal protein network changes in a goat model of atrial fibrillation. | iScience | 2024 | 38827406 | PubTator, text mining | PubMed |
| Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese. | J Neurol Neurosurg Psychiatry | 2024 | 38816190 | PubTator, text mining | PubMed |
| Response to Comments on "Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice". | J Pharmacol Exp Ther | 2024 | 38772716 | PubTator, text mining | PubMed |
| Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy. | Front Immunol | 2024 | 38715621 | 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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