About
Contact & Profiles
A5114600415
Research Areas
- Lysosomal Storage Disorders Research
- Renal Diseases and Glomerulopathies
- Cellular transport and secretion
- Pluripotent Stem Cells Research
- Endoplasmic Reticulum Stress and Disease
- Pancreatic function and diabetes
Bar-Ilan University
2024
Key Points The clinical significance of a number missense variants α -galactosidase A is often ambiguous. Defective proteostasis some induced chronic endoplasmic reticulum stress and the unfolded protein response. Endoplasmic response may explain manifestations non-classic Fabry disease. Background Classic disease caused by GLA mutations that result in loss enzymatic activity A, lysosomal storage globotriaosylceramide, resulting multisystemic In disease, patients have preserved milder...
10.1681/asn.0000000535
article
EN
cc-by
Journal of the American Society of Nephrology
2024-11-12
The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel Correspondence: Dr. Moran Dvela-Levitt, email: [email protected]
10.1681/asn.0000000616
article
EN
Journal of the American Society of Nephrology
2024-12-30
Coming Soon ...