Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.

Journal of neurochemistry - 1 Sept 2024

Onal G, Yalçın-Çakmaklı G, Özçelik C E, Boussaad I, Şeker U Ö Ş, Fernandes Hugo J R, Demir H, Krüger R, Elibol B, Dökmeci S, Salman M M

Abstract excerpt

Glucocerebrosidase 1 (GBA1) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g., p.N370S) and severe (e.g., p.L444P and p.D409H) GBA1 mutations have different PD phenotypes, with differences in age at disease onset, progression, and the severity of motor and non-motor symptoms. We hypothesize that GBA1 mutations cause the accumulation of α-synuclein by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to alpha-Synuclein
Share to Autophagy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dopaminergic Neurons

Share to Endoplasmic Reticulum Stress

Share to Glucosylceramidase

Share to Induced Pluripotent Stem Cells

Share to Parkinson Disease

Share to Proteostasis

Source

Identifiers

PMID: 38641924
DOI: 10.1111/jnc.16114

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variant-specific effects of GBA1 mutations on dopaminergic neuron proteostasis.PMID 38641924Read ↗

GBA1-associated parkinsonism: new insights and therapeutic opportunitiesSemantic proximity Read ↗

The relationship between glucocerebrosidase mutations and Parkinson disease.Semantic proximity Read ↗

Multi-omics insights into GBA1-associated Parkinson's disease: interplay of genomics, transcriptomics, proteomics, and lipidomics.Semantic proximity Read ↗

GBA Variants and Parkinson Disease: Mechanisms and Treatments.Semantic proximity Read ↗

The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.Semantic proximity Read ↗

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine NeuronsSemantic proximity Read ↗

GBA1-Associated Parkinson's Disease Is a Distinct Entity.Semantic proximity Read ↗

Molecular mechanisms of α-synuclein and GBA1 in Parkinson's disease.Semantic proximity Read ↗

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

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance.Semantic proximity Read ↗

Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.Semantic proximity Read ↗

Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.