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

Neuronopathic GBA1L444P Mutation Accelerates Glucosylsphingosine Levels and Formation of Hippocampal Alpha-Synuclein Inclusions.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 18 Jan 2023

Mahoney-Crane Casey L, Viswanathan Megha, Russell Dreson, Curtiss Rachel A C, Freire Jennifer, Bobba Sai Sumedha, Coyle Sean D, Kandebo Monika, Yao Lihang, Wan Bang-Lin, Hatcher Nathan G, Smith Sean M, Marcus Jacob N, Volpicelli-Daley Laura A

Abstract excerpt

The most common genetic risk factor for Parkinson's disease (PD) is heterozygous mutations GBA1, which encodes for the lysosomal enzyme, glucocerebrosidase. Reduced glucocerebrosidase activity associates with an accumulation of abnormal α-synuclein (α-syn) called Lewy pathology, which characterizes PD. PD patients heterozygous for the neuronotypic GBA1L444P mutation (GBA1+/L444P) have a 5.6-fold increased risk of...

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 Glucosylceramidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hippocampus

Share to Lysosomal Storage Disorders Research

Share to Mutation

Share to Parkinson Disease

Share to Parkinson's Disease Mechanisms and Treatments

Source

Open in PubMed Open full text

Identifiers

PMID: 36639889
DOI: 10.1523/JNEUROSCI.0680-22.2022
PMCID: PMC9864632

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

Neuronopathic GBA1L444P Mutation Accelerates Glucosylsphingosine Levels and Formation of Hippocampal Alpha-Synuclein Inclusions.PMID 36639889Read ↗

Neuronopathic GBA1 L444P mutation accelerates Glucosylsphingosine levels and formation of hippocampal alpha-synuclein inclusionsSemantic proximity Read ↗

Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation.Semantic proximity Read ↗

Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease.Semantic proximity Read ↗

Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models.Semantic proximity Read ↗

GBA haploinsufficiency accelerates alpha-synuclein pathology with altered lipid metabolism in a prodromal model of Parkinson’s diseaseSemantic proximity Read ↗

Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models.Semantic proximity Read ↗

Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.Semantic proximity Read ↗

A human <i>GBA-L444P</i> transgene drives early and persistent dopamine neurotransmission deficits and alpha-synuclein pathology in a mouse model of early Parkinson’s diseaseSemantic proximity Read ↗

Glucocerebrosidase Activity Modulates Neuronal Susceptibility to Pathological α-Synuclein Insult.Semantic proximity Read ↗

A novel glucosylceramide synthase inhibitor attenuates alpha synuclein pathology and lysosomal dysfunction in preclinical models of synucleinopathySemantic proximity Read ↗

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.Semantic proximity Read ↗

A Comparative Biochemical and Pathological Evaluation of Brain Samples from Knock-in Murine Models of Gaucher DiseaseSemantic proximity Read ↗

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