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• z a, G-c V, G Me, V r, G-F Ma, P
Most relevant aMbranoarcíaarPizoallardoillaMueraóMezerreríaascual
a, buisine n, sachs lM, Garesse r, aranda a. The thyroid hormone receptor BETA;
scientific induces DNA damage and premature senescence. J Cell Biol. (Figura del artículo

articles
seleccionada como portada de la revista). ISSN 0021-9525. 2014/ 204(1)/ 129-46.

D.O.I. 10.1083/jcb.201305084.

• Fernández-Moreno Ma, hernández r, adán c, roberti M, bruni F, Polosa Pl, cantatore P,
MatsushiMa y, kaGuni ls, Garesse r. Drosophila nuclear factor DREF regulates the ex-

pression of the mitochondrial DNA helicase and mitochondrial transcription factor B2
but not the mitochondrial translation factor B1. BBA-Gene Regul Mech. ISSN 1874-

9399. 2013/ 1829(10)/ 1136-46. D.O.I. 10.1016/j.bbagrm.2013.07.006.

• cleMente P, Peralta s, cruz-berMudez a, echeVarría l, Fontanesi F, barrientos a, Fernández-
M Ma, G r. hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and pro-
orenoaresse
motes cytochrome c oxidase assembly in human mitochondria. J Biol Chem ISSN
0021-9258. 2013/ 288(12)/ 8321-8331. D.O.I. 10.1074/jbc.M112.422220.
á

• Gallardo Me, García-PaVía P, chaMorro r, Vázquez Me, GóMez-bueno M, Millán i, alMoGue-
ra b, doMinGo V, seGoVia J, Vilches c, alonso-PulPón l, Garesse r, bornstein b. Mitochon-

drial haplogroups associated with end-stage heart failure and coronary allograft vas-
culopathy in heart transplant patients. Eur Heart J. ISSN 0195-668X. 2012/ 33(3)/

346-53 D.O.I. 10.1093/eurheartj/ehr280.

• Peralta s, cleMente P, sánchez-Martínez a, calleJa M, hernández-sierra r, MatsushiMa y,
a c, u c, F-M Má, k ls, G r. Coiled coil domain-
dnGaldeernándezorenoaGuniaresse
containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cyto-
chrome c oxidase function. J Biol Chem. ISSN: 0021-9258. 2012/ 287(29)/ 24174-

24185. D.O.I. 10.1074/jbc.M112.343764.

Highlights
The main aims of the CIBERER U717 unit have been focused on the study of different
aspects of the mitochondrial physiopathology. The most relevant results during 2013

are:

• The identification of new genes probably involved in mitochondrial diseases (MD)
(GatC and hCOA3). The results have been reported in 5 articles (2 in J Cell Science,

1 in JBC and 1 in BJ).

• The functional characterization of transmitochondrial cybrids obtained from patients
with LHON and evaluation of the potential tumorigenicity of mitochondrial DNA muta-

tions. With the results obtained we are now drafting two manuscripts.

• Analysis of the involvement of the thyroid hormone receptor beta in DNA damage
and premature senescence. This work has been recently published in the outstanding

journal (J. Cell Biol.).

• Molecular and functional characterization of mitochondrial and nuclear DNA muta-
tions in patients with mitochondrial cardiomyopathy and analysis of the mitochon-

drial DNA background in the development of end stage heart failure. This work has 13
been published in several journals. One in a first decile journal, Eur. Heart J., another 20
T
in Mitochondrion and one in Circ. J. All of them have been signed as first or corre- OR
sponding author by Dr. Gallardo (who is granted by CIBERER).
P
RE
• Generation of induced pluripotent stem cells (iPSC) as a disease model and as a L
A
future approach for the treatment of MD. To perform this task we have been funded NU
by an ACCI project during 2013 (13-717/132.05), another project that has finished N
A
in December 2013 (PI10/00703) and another one recently awarded (PI13/00556: R /
E
January 14- December 2016). At this moment, we have generated several iPSC from ER
patients with MD that are being characterized. This research line (supervised by B
CI
Dr. Gallardo) and another one whose main aim is the identification of new OXPHOS
genes will be the main research lines of our group in the next years.
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