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Gene · 6683

Papers1,637

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
Selective Dorsal Rhizotomy in Children with Hereditary Spastic Paraplegia.Pediatr Neurosurg202641961756PubTator, text miningPubMed
Lipid droplets in neurodegenerative diseases: pathological drivers and therapeutic vulnerabilities.Cell Death Discov202641956992PubTator, text miningPubMed
SPG4 and Dementia: Expanding the Clinical Spectrum.Ann Clin Transl Neurol202641885189PubTator, text miningPubMed
An MSA-P patient presenting with preserved glucose metabolism in the putamen, cerebellar hypometabolism and pronounced loss of presynaptic dopamine transporter in the striatum.EJNMMI Rep202641857168PubTator, text miningPubMed
Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches.Front Neurol202641835067PubTator, text miningPubMed
Spastin Is Required to Prevent SPAST-Related Demyelination.J Neurochem202641797006PubTator, text miningPubMed
Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia.Metab Brain Dis202641774218PubTator, text miningPubMed
Expression of recombinant human glutamylating TTLLs in human cells leads to differential tubulin glutamylation patterns, with only TTLL6 disrupting microtubule dynamics.PLoS One202641770829PubTator, text miningPubMed
Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report.Cell Mol Neurobiol202641758270PubTator, text miningPubMed
A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.Mov Disord202641748310PubTator, text miningPubMed
Modeling spastic paraplegia 4 with corticospinal motor neuron-enriched cortical organoids reveals genotype-phenotype and HDAC6-targetable pathology.Cell Rep202641739645PubTator, text miningPubMed
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights.Mov Disord Clin Pract202641734945PubTator, text miningPubMed
Katanin-mediated severing generates microtubules during neurite outgrowth.Res Sq202641727619PubTator, text miningPubMed
Microtubule lattice defects facilitate spastin-mediated severing.J Cell Sci202641725575PubTator, text miningPubMed
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review.Front Genet202641716259PubTator, text miningPubMed
Two pathogenetic intronic variants in SPG4/SPAST and expansion of the clinical presentation.Gene202641692186PubTator, text miningPubMed
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.Nat Commun202641690933PubTator, text miningPubMed
Cognitive impairment in hereditary spastic paraparesis: An overlooked aspect of a motor disorder.Neurol Sci202641586951PubTator, text miningPubMed
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.J Neurol202641586880PubTator, text miningPubMed
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.Eur J Neurol202641560358PubTator, 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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