About
Contact & Profiles
A5002070326
Research Areas
- Endoplasmic Reticulum Stress and Disease
- Pancreatic function and diabetes
- Metabolism, Diabetes, and Cancer
Rede de Química e Tecnologia
2024
Universidade do Porto
2024
Abstract Developmental diseases are challenging to investigate due their clinical heterogeneity and relatively low prevalence. The Wolcott-Rallison Syndrome (WRS) is a rare developmental disease characterized by skeletal dysplasia permanent neonatal diabetes loss-of-function mutations in the endoplasmic reticulum stress kinase PERK (EIF2AK3). lack of efficient less invasive therapies for WRS highlights need new animal models that replicate complex pathological phenotypes, while preserving...
10.1101/2024.04.16.589737
preprint
EN
bioRxiv (Cold Spring Harbor Laboratory)
2024-04-20
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