The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease

2012146 citationsJournal Articlehybrid Open Access

Authors

Raquel Durán · Krankenhaus Düren

Niccolò E. Mencacci · University of Milan

Aikaterini V. Angeli · Sobell House

Maryam Shoai · University College London

Emma Deas · University College London

Henry Houlden · University College London

Atul Mehta ·

Abstract

Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease.

Topics & Keywords

Lysosomal Storage Disorders Research Cellular transport and secretion Parkinson's Disease Mechanisms and Treatments

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Movement Disorders

Volume 28, Issue 2, pp. 232-236

DOI: 10.1002/mds.25248

Field-Weighted Citation Impact: 4.38