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Most relevant • Pla-Martín d, rueda cb, estela a, sánchez-Piris M, González-sánchez P, traba J, de la
Fuente s, scorrano l, renau-Piqueras J, alVarez J, satrústeGui J, Palau F. Silencing of the
scientific
Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochon-
articles
drial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+

entry. Neurobiol Dis 2013; 55: 140-51. doi: 10.1016/j.nbd.2013.03.010. Epub 2013
Mar 28. PMID: 23542510.

• G ea, l V, c e, b l, s F, M JJ, M F, b
outtenoireuPoalPenaartesaGhichüPFerédardaurereckMann
Js, senderek J, Palau F, esPinós c, chrast r. Sh3tc2 deficiency affects neuregulin-1/
ErbB signaling. Glia 2013l ;61: 1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2.

PMID: 23553667.

• González-cabo P, Palau F. Mitochondrial pathophysiology in Friedreich’s ataxia. J Neuro-

chem 2013; 126 (Suppl. 1): 53-64. doi: 10.1111/jnc.12303. Review. PMID: 23859341.

• siVera r, seVilla t, Vílchez JJ, Martínez-rubio d, chuMillas MJ, Vázquez JF, Muelas n, bata-
ller l, Millán JM, Palau F, esPinós c. Charcot-Marie-Tooth disease: genetic and clinical

spectrum in a Spanish clinical series. Neurology 2013; 81: 1617-25. doi: 10.1212/ ó
WNL.0b013e3182a9f56a. Epub 2013 Sep 27. PMID: 24078732.

• s t, M-r d, M c, P c, c J, J t, M JM, P F,
eVillaartínezubioárquezaradasoloMeraiJoillánalau
esPins c. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy popula-
tion: the hereditary motor and sensory neuropathy-Russe in depth. Clin Genet 2013;

83: 565-70. doi: 10.1111/cge.12015. Epub 2012 Oct 10. PMID: 22978647.

The group is funded by international competitive projects (FP7 ; IRDiRC/ISCIII), National
Highlights
(R+D + i National Plan, AES) , regional (Prometeo GV) and private foundations (Marató

TV3 Foundation, A. Koplowitz Foundation and I. Gemio Foundation). Moreover we main- á
tain a high degree of collaboration with other CIBERER groups through competitive pro-

jects (IRDiRC / ISCIII - JM Milln, J. Satrústegui , F. and JM Pallardó Cuezva ; Prometeo

GV - P. Sanz and V. Rubio).
Milestones of the group are:

• Genetics and pathophysiology of Charcot- Marie -Tooth (CMT) – The genetic causes

of these hereditary neuropathies by searching new CMT genes and mutations (Sivera

et al. Neurology 2013) and the underlying pathogenesis of CMT forms associated
with mitochondrial genes (GDAP1 and MFN2) and the demyelinating gene SH3TC2.

We have found two new genes that currently are in functional validation study, and á

we have described the pathogenic mechanisms and cellular pathophysiology of forms
AR-CMT2K/CMT4A (GDAP1) and CMT4C (SH3TC2) . The major achievements should

be noted: a) confirmation of the participation of GDAP1 on mitochondrial dynamics
and distribution; b) demonstration of the role of GDAP1 in the mitochondria-endo-

plasmic reticulum and interaction with the SOCE mechanism of calcium homeostasis ó

in the pathogenesis of GD AP1 deficiency (Pla -Martin et al. Neurobiol Dis 2013).
13
• Neurobiology and cellular pathophysiology of Friedreich’s ataxia (FRDA) – The study 20
of FRDA pathophysiology in a model of FXN gene silencing in the neuroblastoma line T
OR
SH-SY5Y, and in the transgenic mice YG8R (Gonzlez -Cabo and Palau, J Neurochem P
RE
2013). The most important result has been the establishment of the relationship of L
frataxin deficiency and cellular senescence (Bolinches-Amors et al., Front Cell Neu- A
NU
rosci, in press).
N
A
In summary, the milestones of the group can be summarized as: (i) competitive scientific R /
E
level in the field of neuromuscular diseases, (ii) cooperation with other CIBERER groups ER
(Spanish CMT Consortium), (iii) fostering clinical translation (Genomics and Translational B
CI
Genetics Service at CIPF), and (iv) international leadership in the field of rare diseases
with participation in the EUCERD committee and European projects (EFACTS, EUCERD
131
Joint Action, Orphanet).