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Most relevant scientific articles
• pérez-GarriGues H, siVera r, VílcHez JJ, espinós c, palau F, seVilla t . Vestibular impairment is a relevant feature in SH3TC2 Charcot Marie Tooth disease (CMT4C) . J Neurol Neurosurg Psychiatr 2014; 85: 824-827
• calpena el, martínez-rubio D, sanz i, montaner D, riVolta c, García-peñas JJ, arpa J, Dopazo J, palau F, espinós c . Characterization of a new clinical form of hereditary recurrent neuropathy . Neuromusc Dis 2014; 24:660-665
• bolincHes-amorós a, mollá b, pla-martin D, palau F, González-cabo p . Mitochondrial dysfunction indu- ced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism . Front Cell Neurosci 2014;8:124
• yubero D, o callaGHan m, montero r, ormazabal a, armstronG J, espinos c, roDríGuez ma, Jou c, cas- teJon e, aracil ma, cascaJo mV, GaVilan a, briones p, Jiménez-mallebrera c, pineDa m, naVas p, artucH r . Association between coenzyme Q 10 and glucose transporter (GLUT1) deficiency . BMC Pediatr 2014;14:284
• Ministerio de Sanidad, Servicios Sociales e Igualdad . Palau F (coordinador científico) et al . Estrategia en Enfermedades Raras del Sistema Nacional de Salud - Actualización aprobada por el Consejo Interterri- torial del Sistema Nacional de Salud el 11 de junio de 2014 .
http://www .msssi .gob .es/organizacion/sns/planCalidadSNS/pdf/Estrategia_Enfermedades_Raras_ SNS_2014 .pdf
Highlights
Institution: Fundación Centro de Investigación Príncipe Felipe Contact: Centro de Investigación Príncipe Felipe · C/ Eduardo Primo Yúfera, 3 . 46013 Valencia Phone: (+34) 96 328 96 81 Ext 1205
The group has achieved several scientific milestones in 2014, although some of them were published in early 2015 . These accomplishments are summarized: 1) We have shown that frataxin depletion associated with Friedreich’s ataxia presents a bioenergetic deficit and a defect in the mitochondrial calcium handling with induction of cellular senescence; 2) we have shown that lack of GDAP1 in a murine KO model of recessive Charcot-Marie-Tooth disease type 2K disease affects mitochondrial alterations with depleted cytosolic calcium and that this may lead to axonal neuropathy (Barneo-Muñoz et al . PLoS Genet 2015); 3) we have shown by genetic and functional studies that JPH1 gene encoding the juntophilin-1 is a modifier gene in the clinical expression and severity of CMT2K dominant forms of neuropathy Charcot-Marie-Tooth disease due to R120W mutation in the GDAP1 gene (Pla-Martin et al . Hum Mol Genet 2015) .
Under the EUCERD Joint Action No . 20112201, we have organized the Workshop on the preliminary results of the survey on expert centres in Europe, part of WP7 aimed at studying these centers as actions healthcare quality for rare diseases in the European context of the coming European Reference Networks (March 31-April 1, 2014, Madrid) .
Along with CIBERER Unit 762 we have organized the International Symposium on ‘Peripheral inherited neuropathies: from biology to therapy’ at the Ramon Areces Foundation in Madrid .
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