Page 103 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
Pla-martín d, calPena e, luPo V, márqueZ c, riVas e, siVera r, seVilla t, Palau F*, esPinós c*. Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. Hum Mol Genet 2015; 24: 213-229 (portada del número 1, vol 24)
Barneo-muñoZ m, JuáreZ P, ciVera-tregón a, Yndriago l, Pla-martin d, ZenKer J, cueVas-martín c, estela a, sáncheZ-aragó m, ForteZa-Vila J, cueZVa Jm, chrast r, Palau F. Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of Charcot-Marie-Tooth neuropathy. PLoS Genet 2015; 11: e1005115.
oliVares m, neeF a, castilleJo g, Palma gd, Varea V, ca- Pilla a, Palau F, noVa e, marcos a, Polanco i, riBes-Kon-
Highlights
CURRENT RESEARCH GRANTS
Translational Research, Experimental Medicine And Therapeutics on Charcot-Marie-Tooth Disease – Spanish CMT Consortium TREAT-CMT. IR11, funded by the Instituto de Salud Carlos III and the Interna- tional Rare Diseases Research Consortium (IRDiRC), 2012 – 2015. PI: Francesc Palau (coordinator), Centro de Investigación Príncipe Felipe (CIPF), Valencia.
Dissecting mitocondrial pathophysiology Char- cot-Marie-Tooth neuropathy. SAF2012-32425, funding by the Ministry of Economy and Compet- itiveness, R+D National Plan, 2013-2015. PI: Franc- esc Palau, Centro de Investigación Príncipe Felipe (CIPF), Valencia.
Genes, proteins and signalling pathways in rare diseasess (BioMeder). PROMETEOII/2014/029 (re- search groups of excellence), funded by the Generali- tat Valenciana, 2014-15. PI: Francesc Palau, Centro de Investigación Príncipe Felipe (CIPF), Valencia.
The landscape between phenotype and genotype in neurological diseases development: validation of a clinical model of functional biology. Cooperative and Complementary Intramural Actions (ACCI), funded by the CIBER on Rare Diseases (CIBERER), 2015-2016. PI: Francesc Palau, Institut de Recerca Pediàtrica-HS- JD/CIBERER, Barcelona.
incKx c, ortigosa l, iZquierdo l, sanZ Y. The HLA-DQ2 genotype selects for early intestinal microbiota composi- tion in infants at high risk of developing coeliac disease. Gut 2015; 64:406-417
hoenicKa J, garcía-ruiZ P, Ponce g, herranZ a, martín- eZ-ruBio d, PéreZ-santamarina e, Palau F. The addic- tion-related gene ANKK1 in parkinsonian patients with impulse control disorder. Neurotox Res 2015; 7:205-208
seVilla t, siVera r, martíneZ-ruBio d, luPo V, chumillas mJ, calPena e, doPaZo J, VílcheZ JJ, Palau F, esPinós c. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. Eur J Neurol 2015, 22: 1548–1555
The landscape of axonal biology and mitochondri- al-associated membranes in neurogenetic diseases. SAF2015-66625-R, applied and funded the Ministry of Economy and Competitiveness, R+D National Plan, 2016-2019. IP1: Francesc Palau; IP2: Pilar González Cabo, Institut de Recerca Pediàtrica-HSJD, /CIBERER, Barcelona y Valencia.
SCIENTIFIC HALLMARKS
1. Demonstration that the GDAP1 deficiency produc- es axonal neuropathy and defects in the mitochon- dria-endoplasmic reticulum interaction and cellular calcium homeostasis in the knockout mouse model.
2. Demonstration that juntophilin-1 (JPH1) is a genetic modifier of the clinical expression of the Charcot-Ma- rie-Tooth disease caused by mutations in GDAP1.
TEACHING
F. Palau, Adjunct Profesor of Human Genetics, Fac- ulty of Medicine at Ciudad Real, University of Castil- la-La Mancha, and Visiting Professor of Pediatrics, Faculty of Medicine, University of Barcelona.
Institution: Fundación para la Investigación y Docencia Sant Joan de Déu
Contact: Hospital Sant Joan de Deu. C/ Santa Rosa, 39-57. 08950 Esplugues de Llobregat Tel.: 93 253 21 00 ext. 71080 - 81080 · E.mail: [email protected]
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