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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.

TitleJournalYearPMIDFound bySource
l-NBDNJ allosteric chaperone for multiple defective enzymes involved in lysosomal storage disorders (LSDs).Bioorg Chem202642107261PubTator, text miningPubMed
Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.Int J Mol Sci202642074341PubTator, text miningPubMed
Increased Glycogenin-Exposed Residual Glycogen in Lysosomes Is the Early Pathological Finding in Asymptomatic Pompe Disease.Muscle Nerve202641923452PubTator, text miningPubMed
Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review.Front Allergy202641918960PubTator, text miningPubMed
Sex-Specific Plasma Metabolomic Signatures in COPD Reveal Creatine, Purine/Urate, and Bile-Acid Axes.Metabolites202641893329PubTator, text miningPubMed
Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases.Mol Genet Metab Rep202641890542PubTator, text miningPubMed
A screening pipeline for human proteins interacting with dyes and toxins applied to the melanin virulence determinant 1,8-dihydroxynaphthalene of Aspergillus fumigatus.Comput Biol Med202641886923PubTator, text miningPubMed
Identification of tofersen PD-response biomarkers in VALOR clinical trial CSF via multiplexed quantitative proteomics.Cell Rep Med202641850233PubTator, text miningPubMed
Identification of alterations of immunometabolism associated with Pompe disease.Cell Mol Life Sci202641840212PubTator, text miningPubMed
Synthesis of Some Novel Chalcone and 3,5-Disubstituted Pyrazoline Derivatives: Evaluation of Their α-Amylase and α-Glucosidase Inhibitory Activities In Vitro and In Silico.Arch Pharm (Weinheim)202641793102PubTator, text miningPubMed
Decreased Glucose Metabolism and Declined Chaperones Are Unique Features Required for the Survival of Senescent Fibroblasts and Pyruvate Dehydrogenase Is a Potent Senolytic Target.Aging Cell202641786630PubTator, text miningPubMed
Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.Front Neurol202641783848PubTator, text miningPubMed
Design of multivalent pharmacological chaperones against Pompe disease via metal-free ligation.Org Biomol Chem202641778785PubTator, text miningPubMed
Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias.Cerebellum202641775907PubTator, text miningPubMed
Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.J Clin Neurol202641775371PubTator, text miningPubMed
Genetic Biomarkers for Moyamoya Disease Beyond Angiography.J Clin Neurol202641775368PubTator, text miningPubMed
Decoding genetic complexity in glycogen storage diseases: three novel variants in SLC37A4, GAA, and PHKG2 identified in an Iranian cohort.Neuromuscul Disord202641771245PubTator, text miningPubMed
Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease.Ther Adv Rare Dis202641769220PubTator, text miningPubMed
Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate data.J Comp Eff Res202641757410PubTator, text miningPubMed
N1MΨU-modified mRNA vaccines break the mold in fish by enhancing innate immune activation.Mol Ther Nucleic Acids202641757374PubTator, text miningPubMed

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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