GBA1

Betegségek

• Parkinson disease22 vizsgálat
• Gaucher disease8 vizsgálat
• Lewy body dementia1 vizsgálat
• Multiple myeloma1 vizsgálat

Az elmúlt 24 hónap

Új vizsgálatok, publikációk, preprintek és pályázatok ezen a célponton, hónapról hónapra.

VizsgálatokPublikációkPreprintekPályázatok

• Vizsgálat

  A Phase 2 study of VQ-101 in participants with Parkinson’s disease and GBA1 mutation

  2026. nov. 13.· PHASE2 · NOT_YET_RECRUITING· CTIS

• Publikáció

  Integrative Evolutionary and Structural Analysis of GBA1 Provides Insights Into Mutation-Specific Effects Associated With Parkinson's Disease.

  2026. nov. 1.· The European journal of neuroscience· PUBMED

• Publikáció

  Longitudinal olfactory and neuropsychological trajectories across the GBA1 spectrum.

  2026. okt. 16.· Brain communications· PUBMED

• Publikáció

  Extended Deletion in the GBA1 Gene, Masked by Apparent p.Asn409Ser Homozygous: Diagnostic Implications and the Need for an Integrated Genetic Approach.

  2026. okt. 15.· International journal of molecular sciences· PUBMED

• Publikáció

  GBA1 Canada initiative (G-can), a pre-competitive, open science platform for GBA1 research.

  2026. okt. 15.· Journal of Parkinson's disease· PUBMED

• Publikáció

  Building Scalable Recruitment Models for Precision Medicine in Parkinson's Disease: Insights from GBA1 Trials.

  2026. okt. 8.· Movement disorders : official journal of the Movement Disorder Society· PUBMED

• Vizsgálat

  Prevent Cognitive Decline in GBA-associated Parkinson's Disease

  2026. okt. 1.· PHASE2 · RECRUITING· CTGOV

• Vizsgálat

  Parkinson's Disease in Type 1 Gaucher Disease

  2026. szept. 21.· NA · RECRUITING· CTGOV

• Publikáció

  GBA1 in Parkinson's disease: past, present and future.

  2026. szept. 18.· Brain : a journal of neurology· PUBMED

• Publikáció

  Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic GBA1 variants: a case report.

  2026. szept. 3.· Frontiers in neuroscience· PUBMED

• Publikáció

  The Effect of LRRK2 and GBA1 Mutations on Survival in Early- and Late-Onset Parkinson's Disease.

  2026. szept. 1.· Movement disorders : official journal of the Movement Disorder Society· PUBMED

• Publikáció

  Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

  2026. aug. 22.· Brain & development· PUBMED

• Publikáció

  Glucocerebrosidase dysfunction in GBA1 carriers: insights from blood and macrophage analyses.

  2026. aug. 21.· Molecular biology reports· PUBMED

• Publikáció

  Pathogenic GBA1 Variants and their Interaction with the Gut-Microbiota-Brain Axis in Parkinson's Disease.

  2026. aug. 20.· Movement disorders : official journal of the Movement Disorder Society· PUBMED

• Publikáció

  Genetic Architecture of Synaptic Failure in Dementia with Lewy Bodies: From α-Synuclein Proteoforms to GBA1-Mediated Plasticity Deficits.

  2026. aug. 18.· Genes· PUBMED

• Publikáció

  Early-Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant.

  2026. aug. 10.· Movement disorders clinical practice· PUBMED

• Publikáció

  GBA1 variants and mortality in Parkinson's disease: A systematic review and meta-analysis.

  2026. aug. 7.· Journal of Parkinson's disease· PUBMED

• Publikáció

  Cholesterol enhances lysosome-autophagosome fusion for better α-synuclein clearance in GBA L444P-mutated Parkinson disease.

  2026. aug. 6.· Cell reports· PUBMED

• Publikáció

  Altered synaptic and astrocytic proteins in Lewy body disorders associated with GBA mutations.

  2026. júl. 23.· Brain communications· PUBMED

• Publikáció

  E326K GBA polymorphism is associated with clinical and pathological features of synucleinopathy in the absence of overt Parkinson's disease or Lewy body dementia.

  2026. júl. 22.· Journal of Parkinson's disease· PUBMED

• Publikáció

  Establishment of a human induced pluripotent stem cell line (PNUSCRi003-A) from a patient with Gaucher disease carrying compound heterozygous p.Arg87Trp and p.Arg296Gln variants in the GBA1 gene.

  2026. júl. 22.· Stem cell research· PUBMED

• Publikáció

  Association of GBA1 status and sex with depression severity and progression in Parkinson's disease.

  2026. júl. 8.· NPJ Parkinson's disease· PUBMED

• Vizsgálat

  A Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of Intracerebral Injection of LY-N001 Injection for the Treatment of Moderate to Advanced Parkinson's Disease With GBA1 Mutations

  2026. júl. 7.· EARLY_PHASE1 · NOT_YET_RECRUITING· CTGOV

• Publikáció

  GBA1 variants and dopaminergic imaging in essential tremor with atypical features: A comparative study with Parkinson's disease.

  2026. júl. 6.· Parkinsonism & related disorders· PUBMED

• Publikáció

  GBA mutation exacerbates α-synuclein pathology with involvement of ROS and p38 MAPK signaling in Parkinson's disease.

  2026. jún. 30.· International immunopharmacology· PUBMED

• Publikáció

  Ferumoxytol enhances NF-κB-responsive GBA-targeted ferroptosis gene therapy in acute myeloid leukemia.

  2026. jún. 23.· Journal of nanobiotechnology· PUBMED

• Publikáció

  Recombinant GBA1 alleles presenting as exon-level deletions by short-read NGS in Parkinson disease: Implications for diagnostic approaches.

  2026. jún. 19.· Journal of human genetics· PUBMED

• Publikáció

  Targeting lysosomal pH restores mitochondrial quality control in GBA1-mutant Parkinson's disease.

  2026. jún. 17.· Translational neurodegeneration· PUBMED

• Publikáció

  Intra-CNS AAV9-GBA1 delivery yields species and route of administration differences in safety and transgene expression.

  2026. jún. 11.· Molecular therapy. Advances· PUBMED

• Publikáció

  Lysine acetyltransferase 8-mediated histone acetylation, regulated by GBA1, is associated with lysosomal function related to α-Synuclein pathology.

  2026. jún. 8.· Cell death & disease· PUBMED

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