Article

Acid Sphingomyelinase Deficiency Normalizes Neuronal Function in GCase Deficiency - Unexpected Biological Rescue Effect of Combined Genetic Risk Factors for Parkinson’s Disease

2020-08-20

Abstract excerpt

<h4>Background: </h4> The additive mechanistic effect of genetic risk variants for Parkinson’s disease (PD) is a plausible but largely unproven hypothesis. We investigated the mechanistic interaction between the two lysosomal PD risk genes glucocerebrosidase 1 ( GBA1 ) and sphingomyelinase 1 ( SMPD1 ) in complementing model systems. <h4>Methods: </h4> Using CRISPR/Cas gene editing, smpd1 mutant ( smpd1 -/- ) zebra...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b016330e-e523-572c-9515-ead43b897b70
DOI: 10.21203/rs.3.rs-58079/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Acid Sphingomyelinase Deficiency Normalizes Neuronal Function in GCase Deficiency - Unexpected Biological Rescue Effect of Combined Genetic Risk Factors for Parkinson’s DiseaseDOI 10.21203/rs.3.rs-58079/v1Read

Unexpected opposing biological effect of genetic risk factors for Parkinson’s diseaseSemantic proximity Read

Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency.Semantic proximity Read

Glucocerebrosidase-associated Parkinson disease: Pathogenic mechanisms and potential drug treatments.Semantic proximity Read

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

Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.Semantic proximity Read

Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregationSemantic proximity Read

Glucocerebrosidase 1 deficientDanio reriomirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell deathSemantic proximity Read

An <i>N</i> -acylphosphatidylethanolamine-LRRK2 axis controls lysosomal homeostasis in Parkinson’s diseaseSemantic proximity Read

Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation.Semantic proximity Read

Exome sequencing in Asian populations identifies rare deficient<i>SMPD1</i>alleles that increase risk of Parkinson’s diseaseSemantic proximity Read

The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolismSemantic proximity Read

Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues.Semantic proximity Read