Gene · 2581
Papers1,700
Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.
41 to 60 of 1,700
Download this page as JSON| Title | Journal | Year | PMID | Found by | Source |
|---|---|---|---|---|---|
| Molecular Characterization of the GALC Mutation Thr112Ala Causing Krabbe Disease. | Int J Mol Sci | 2025 | 40943566 | PubTator, text mining | PubMed |
| Restoration of Lysosomal Hydrolase Activities by LRRK2 Inhibition in GBA1- and LRRK2-Associated Parkinson's Disease Patient-Derived Cells. | J Neurochem | 2025 | 40899651 | PubTator, text mining | PubMed |
| A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report. | J Med Case Rep | 2025 | 40898267 | PubTator, text mining | PubMed |
| Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome. | BMJ Case Rep | 2025 | 40854718 | PubTator, text mining | PubMed |
| Bezafibrate treatment rescues neurodevelopmental and neurodegenerative defects in 3D cortical organoid model of MAPT frontotemporal dementia. | Alzheimers Dement | 2025 | 40810332 | PubTator, text mining | PubMed |
| Proteomic insights into the biology of dopaminergic neurons. | Front Mol Neurosci | 2025 | 40808910 | PubTator, text mining | PubMed |
| Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature. | Mol Genet Metab Rep | 2025 | 40727947 | PubTator, text mining | PubMed |
| Self-Assembly of Accumulated Sphingolipids into Cytotoxic Fibrils in Globoid Cell Leukodystrophy and Their Inhibition by Small Molecules In Vitro. | ACS Nano | 2025 | 40603002 | PubTator, text mining | PubMed |
| Investigating the Cellular Effects of GALC Dosing in Enzyme Replacement Therapy for Krabbe Disease Supports the Role of Nanomedicine. | Adv Biol (Weinh) | 2025 | 40590240 | PubTator, text mining | PubMed |
| [Genetic screening and follow-up results in 3 001 newborns in the Yunnan region]. | Zhongguo Dang Dai Er Ke Za Zhi | 2025 | 40583703 | PubTator, text mining | PubMed |
| Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing. | J Peripher Nerv Syst | 2025 | 40560063 | PubTator, text mining | PubMed |
| How do different cell populations orchestrate myelin regeneration? | Biochem Soc Trans | 2025 | 40552465 | PubTator, text mining | PubMed |
| High-rate mechano-stimulation alters proliferation- and maturation-related signaling of oligodendrocyte precursor cells in a 3D hydrogel. | Mechanobiol Med | 2025 | 40519865 | PubTator, text mining | PubMed |
| Neuroglial Pathophysiology of Leukodystrophies. | Adv Neurobiol | 2025 | 40500501 | PubTator, text mining | PubMed |
| Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants. | J Biol Chem | 2025 | 40449593 | PubTator, text mining | PubMed |
| Pelizaeus-Merzbacher Disease as a Cause of Early-Onset Developmental Delay: A Case Report. | Cureus | 2025 | 40376385 | PubTator, text mining | PubMed |
| Direct microglia replacement reveals pathologic and therapeutic contributions of brain macrophages to a monogenic neurological disease. | Immunity | 2025 | 40311614 | PubTator, text mining | PubMed |
| Exploring lipid metabolism-associated gene biomarkers and their regulatory mechanisms in nasopharyngeal carcinoma. | Cancer Biomark | 2025 | 40294966 | PubTator, text mining | PubMed |
| Oral and Poster Abstracts of the 13th ISNS European Regional Meeting. | Int J Neonatal Screen | 2025 | 40136636 | PubTator, text mining | PubMed |
| Evidence and Recommendation for Infantile Krabbe Disease Newborn Screening. | Pediatrics | 2025 | 40074005 | 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.
For software
Read this list from software.
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GET https://conductscience.org/api/genes/v1/2581/papers?page=3