Page 71 - MemoriaER-Eng

www.ciberer.es

Most relevant • Melià MJ, kubota a, ortolano s, Vílchez JJ, GáMez J, tanJi k, bonilla e, Palenzuela l, Fer-
nández-cadenas i, PristouPiloVá a, García-aruMí e, andreu al, naVarro c, hirano M, Martí
scientific
r. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin
articles
3 gene. Brain 2013;136:1508-17. IF (2012): 9.915, Decil 1 (Neurosciences).

• c y, G-V e, s M, t-t J, M r. Feeding the
áMaraonzálezioquecarPelliorresorronterasartí
deoxyribonucleoside salvage pathway to rescue mitochondrial DNA. Drug Discov
Today 2013;18:950-7. IF (2012): 6.551, Decil 1 (Pharmacology & Pharmacy).

•
P t, M MJ, o n, M-V a, r-e a, G e, h-
inóseliàrtizartínezeaaVentósstelléallardoernán
dez-losa J, cáMara y, andreu al, García-aruMí e. Identification of the novel mutation
m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bila-

teral ptosis and ophthalmoparesis. Neuromuscul Disord 2013;23:330-6. IF (2012):

3.464, Cuartil 1 (Clinical Neurology).

•
blanco-Grau a, bonaVentura-ibars i, coll-cantí J, Melià MJ, Martínez r, Martínez-Gallo
M, andreu al, Pinós t, García-aruMí e. Identification and biochemical characterization

of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with
NARP syndrome. Genes Brain Behav 2013;12:812-20. IF (2012): 3.597, Cuartil 1

(Behavioral sciences).

•
Perier c, bender a, García-aruMí e, Melià MJ, boVé J, laub c, kloPstock t, elstner M,
M rb, t P, P t, a al, V M. Accumulation of mitochondrial
ounseyeisMannrollandreuila
DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms.
Brain 2013;136:2369-78. IF (2012): 9.915, Decil 1 (Neurosciences).

•
Highlights
We found the gene (TNPO3) whose mutations cause a form of dominant limb ó
girdle muscular dystrophy (LGMD1F) discovered and characterized genetica-

lly by our group some time ago (Melià et al, Brain 2013). This represents a
significant progress in the field of muscular dystrophies and opens interesting

possibilities for synergy, as transportin 3 (encoded by TNPO3) participates in

the process of HIV infection, and is currently a hot topic in this area. In fact,
we have already started a very productive collaboration with other researchers

working on HIV infection.

•
We have initiated the development of EUROMAC, a European project funded

by DG- SANCO (Directorate General for Health & Consumers, European Com-
mission), of which we are the coordinator group. EUROMAC has 20 partners

from 8 European countries and the U.S., and its main objective is to create an

international registry of patients with McArdle’s disease or other glycogenoses.
In addition to developing its specific objectives, this project has helped us to

expand our international collaborations and to increase our knowledge on the
important field of rare disease registries.

Besides these two major milestones, during 2013 we have also significantly pro- 13
gressed in the field of conventional and advanced therapies (gene therapy) for 20
T
mitochondrial DNA depletion syndromes, resulting in a publication in 2013 (Cá- OR
mara et al, Drug Discov Today, 2013) and two recently published papers (Cámara P
RE
et al, Hum Mol Genet 2014; Torres-Torronteras et al, Mol Ther 2014) . We have L
A
also contributed to expand the knowledge of disorders caused by primary muta- NU
tions in mitochondrial DNA, with the description and characterization of two novel N
A
pathogenic mutations (Pins et al, Neuromuscul Disord 2013; Blanco-Grau et al, R /
E
Genes Brain Behav 2013).
ER
B
CI

71