Francesc Palau Martínez
Jefe de Grupo Senior
Research group
Professional network profiles
Related websites
SJD Barcelona Children's Hospital Last Publications
- León M, Prieto J, Molina-Navarro MM, García-García F, Barneo-Muñoz M, Ponsoda X, Sáez R, Palau F, Dopazo J, Izpisua Belmonte JC and Torres J Rapid degeneration of iPSC-derived motor neurons lacking Gdap1 engages a mitochondrial-sustained innate immune response. Cell Death Discovery . 9(1): 217-217.
- Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy PEDIATRIC NEUROLOGY . 144: 11-15.
- Cantarero-Abad L, García-Vargas G, Hoenicka J and Palau F Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites BIOLOGY OPEN . 12(4): .
Projects
- Project name:
- The clinical brain of coffin-siris syndrome: comprehensive approach to a neurodevelopmental disorder
- Leader
- Francesc Palau Martínez
- Funding entities:
- ASOCIACIÓN ESPAÑOLA COFFIN-SIRIS
- Code
- PFNR0183
- Starting - finishing date:
- 2023 - 2024
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2024
- Project name:
- The Copper (less) program: Treating and Futures Perspectives for Menkes
- Leader
- Francesc Palau Martínez, Janet Hoenicka
- Funding entities:
- Menkes International Association
- Code
- PFNR0161
- Starting - finishing date:
- 2022 - 2023
News
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Mitochondria-lysosome contacts: a new cell phenotype in neurogenetic diseases
The Neurogenetics and Molecular Medicine research group of the Institut de Recerca Sant Joan de Déu (IRSJD), in collaboration with the Neuromuscular Pathology Unit of the SJD Barcelona Children's Hospital (HSJD), has studied the pathophysiology of mitochondrial dynamics and mitochondrial- lysosome contacts in cells from patients with neurogenetic diseases. The article has been published in the journal Frontiers in Neuroscience.
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First scientific conference on nanotechnology and rare diseases
The Spanish nanomedicine platform (Nanomed Spain), together with the Sant Joan de Déu Research Institute and the IBEC (Institute of Bioengineering of Catalonia), organised an event within the framework of the Rare Disease Day at which they presented the latest innovations in the field of nanomedicine for the treatment and diagnosis of these diseases.