Page 121 - MemoriaER-Eng

www.ciberer.es

• P-G, d., G-d, a., i, e., l-G, e., M, J., r-
Most relevant acheurauoMezuranGlesiasóPezallardoontoyauiz
Pesini, e. “Mitochondrial antibiograms in personalized medicine”. Hum Mol Genet.
scientific 22, 1132-1139, 2013.

articles
• llobet, l., GóMez-durán, a., iceta, r., iGlesias, e., Montoya, J., Martín-Martínez, J., ara, J.
r., ruiz-Pesini, e. ”Stressed cybrids model demyelinated axons in multiple sclerosis”.

Metabolic Brain Disease 28, 639–645, 2013.

• Montero, r., Grazina, M., lóPez-Gallardo, e., Montoya, J., briones, P., naVarro-sastre, a.,
l, J. M., h, i. P., a, r. “Coenzyme Q deficiency in mitochondrial DNA
andarGreaVesrtuch
depletion síndromes”. Mitochondrion 13, 337–341, 2013.

• lorente, l., iceta, r., Martín, M. M., lóPez-Gallardo, e., solé-Violán, J., blanquer, J.,
l, l., d, c., b-l, J. M., J, a., M, J., r-P, e. “Se-
abartaíazorreGueroeóniMénezontoyauizesini
vere septic patients from mitochondrial DNA haplogroup JT show higher survival ra-
tes: A multicenter, observational and prospective study”. PLoS ONE. 8 (9), e73320,

2013. (doi: 10.1371/journal.pone.0073320).

• Palacín, M., coto, e., llobet, l, Pacheu-Grau, d., Montoya, J., and ruiz-Pesini, e. “FK506

affects mitochondrial protein synthesis and oxygen consumption in human cells”. ó
Cell Biology and Toxicology. 29, 407-414, 2013.

ó
Molecular-Genetic diagnosis of mitochondrial DNA diseases. Construction of trans-
Highlights
mitochondrial cybrids that can differentiate into neurons for the study of the phys-
iopathogenic mechanism of newmutations. Study of the population mtDNA genetic

variants which cause sensitivity to multifactorial diseases. Characterisation of en-

vironmental and nuclear-genetic factors interacting with the genetic background ó
in the development of susceptibility to diseases. Search for drugs acting at the

OXPHOS system level. Chronic human pain and fatigue

RESEARCH GRANTS.

• Eduardo Ruiz Pesini. “Toxicogenomics of the oxidative phosphorylation system in

Parkinson disease”. Instituto de Salud Carlos III. Fondo de Investigación Sani- í
taria PI11/01301 Duracin: 2012-2014

• Julio Montoya Villarroya. “New mitochondrial DNA mutations associated to dis-

eases: Characterization in transmitochondrial cybrids built with immortalized
ó
cellular lines and human adult stem cells”. Instituto de Salud Carlos III. Fondo
de Investigacin SanitariaPI10/00662 Duracin: 2011-2014 (Intrasalud)

DEFENDED PHD THESIS.

“Mitochondrial DNA mutations associated to diseases: respiratory chain complex
• í
IV deficit and other alteratios” otras alteraciones”. Mara Dolores Herrero Martín,

Universidad de Zaragoza. July 12th, 2013. Qualification: Apto “cum laude”

CONFERENCIES.
13
20
• Son Espases Hospital. Palma de Mallorca. January 30, 2013. “Genetics of the T
OR
mitochondrial diseases”
P
RE
• Asociacin de Enfermos de Patologa Mitocondrial. Madrid. October 26, 2013. L
“Genetic therapy of hereditary mitochondrial DNA diseases”
A
NU
CREER (National centre for Rare Diseases. Burgos. Noviembre 13, 2013. “Cel- N
• A
lular models for the study of the patogeneicity of new mitochondrial DNA muta- R /
E
tions and of possible therapeutic compounds”
ER
B
CI

121