Plasma Glucosylsphingosine in <scp> <i>GBA1</i> E365K </scp> , <scp>N409S,</scp> and <scp>L483P</scp> Heterozygous Mutation Carriers
Elevated plasma glucosylsphingosine confirms reduced glucocerebrosidase function in E365K carriers. © 2026 Merck &Co. Inc. and The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Shalini Padmanabhan
- A. Haimovich
- Nathan G. Hatcher (ORCID: https://orcid.org/0000-0002-0928-0649)
- Lihang Yao
- Roy N. Alcalay
- Rachel Griep
- Julian Agin‐Liebes
Institutions
- Merck & Co., Inc., Rahway, NJ, USA (United States) (US)
- Tel Aviv University (IL)
- Columbia University Irving Medical Center (US)
- Tel Aviv Sourasky Medical Center (IL)
- Michael J. Fox Foundation (US)
Publication Details
- Journal
- Movement Disorders
- Published
- 2026-01-19
- DOI
- https://doi.org/10.1002/mds.70205
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Michael J. Fox Foundation for Parkinson's Research
- Parkinson's Foundation
- National Institutes of Health