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

The Enigmatic Role of GBA2 in Controlling Locomotor Function

27 Nov 2017

Abstract excerpt

The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP) and autosomal-recessive cerebellar ataxia (ARCA). Patients suffering from these disorders exhibit impaired locomotion and neurological...

Read the complete abstract on PubMed

Topics

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

Share to Cellular transport and secretion
Share to Erythrocyte Function and Pathophysiology
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29234271
DOI: 10.3389/fnmol.2017.00386

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Enigmatic Role of GBA2 in Controlling Locomotor FunctionPMID 29234271Read ↗

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.Semantic proximity Read ↗

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.Semantic proximity Read ↗

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).Semantic proximity Read ↗

Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation.Semantic proximity Read ↗

A Common PD-Risk <i>GBA1</i> Variant Disrupts LIMP2 Interaction, Impairs Glucocerebrosidase Function, and Drives Lysosomal and Mitochondrial DysfunctionSemantic proximity Read ↗

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.Semantic proximity Read ↗

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.Semantic proximity Read ↗

Functional Analysis of Human GBA1 Missense Mutations in Drosophila: Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences.Semantic proximity Read ↗

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.Semantic proximity Read ↗

Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.Semantic proximity Read ↗

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.Semantic proximity Read ↗

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.Semantic proximity Read ↗

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