Gene · 3073
Papers1,522
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 1,522
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Modeling Tay-Sachs Disease in Astrocyte-like Cells Reveals Significant Changes in the Transcriptomic Profile. | Int J Mol Sci | 2026 | 42511849 | PubTator, text mining | PubMed |
| Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype. | J Peripher Nerv Syst | 2026 | 42466981 | PubTator, text mining | PubMed |
| Clinical Utility of Rapid Whole-Genome Sequencing in Hospitalized Adults With Unexplained Neurologic Presentations. | Neurology | 2026 | 42302220 | PubTator, text mining | PubMed |
| Rare-Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease. | Mov Disord | 2026 | 42272075 | PubTator, text mining | PubMed |
An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis. | Hum Genomics | 2026 | 42271533 | PubTator, text mining | PubMed |
| C4BP occludes the non-opsonic interaction of Neisseria gonorrhoeae with human neutrophil CEACAMs. | Infect Immun | 2026 | 42267928 | PubTator, text mining | PubMed |
| An Enzyme-Responsive Gd(III) MRI Probe for Visualizing β-Hexosaminidase A Activity. | ACS Sens | 2026 | 42247632 | PubTator, text mining | PubMed |
| The competition between splicing and 3' processing shapes the human transcriptome. | Genes Dev | 2026 | 42140670 | PubTator, text mining | PubMed |
| Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. | Clin Case Rep | 2026 | 42022979 | PubTator, text mining | PubMed |
| The EGR1/ZFP36 axis governs glycosphingolipid metabolic reprogramming in monocyte-derived macrophages in guillain-barré syndrome. | Neurotherapeutics | 2026 | 41916145 | PubTator, text mining | PubMed |
| Tay-Sachs disease models: From cellular and animal models to treatment perspectives. | Mol Genet Metab | 2026 | 41880697 | PubTator, text mining | PubMed |
| B4Galnt1 Deficiency Reverses Severe Neurological Symptoms in a Mouse Model of Tay-Sachs Disease. | Neuromolecular Med | 2026 | 41803330 | PubTator, text mining | PubMed |
| Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease. | Stem Cell Res | 2026 | 41795546 | PubTator, text mining | PubMed |
| Demonstration of the Role of Both a Ttr and a Psr Homologue Enzymes in the Respiration of Tetrathionate by an Environmental Bacterium Shewanella sp. ANA-3. | Environ Microbiol | 2026 | 41761654 | PubTator, text mining | PubMed |
| Rare-variant burden across lysosomal genes implicates sialylation and ganglioside metabolism in Parkinson's disease. | medRxiv | 2026 | 41757160 | PubTator, text mining | PubMed |
| Prime Editing Driven Functional Genomics: Bridging Genotype to Phenotype in the Post-Genomic Era. | Int J Mol Sci | 2026 | 41751840 | PubTator, text mining | PubMed |
| Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis. | J Biomol Struct Dyn | 2026 | 41719140 | PubTator, text mining | PubMed |
| C4BP occludes the non-opsonic interaction of Neisseria gonorrhoeae with human neutrophil CEACAMs. | bioRxiv | 2026 | 41648161 | PubTator, text mining | PubMed |
| A multi-ancestry genetic reference for the Quebec population. | Nat Commun | 2026 | 41634041 | PubTator, text mining | PubMed |
| Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine. | Orphanet J Rare Dis | 2026 | 41593770 | 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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