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Most relevant • launay n, ruiz M, Fourcade s, schlüter a, Guilera c, Ferrer i, knecht e and PuJol a*.
Oxidative stress regulates UPS and immunoproteasome functioning in a mouse
scientific
model of X-adrenoleukodystrophy. Brain, 2013 Mar;136(Pt 3):891-904. IF: 10.870
articles
(D1 Neurosciences 10/252).

• l-e J, G J, r M, c JM, F i, P r, F i, P-
óPezrauskinalinouizuezVaabreGataMPlonaerrerortero
otín M, Fourcade s, and PuJol a*. Impaired mitochondria oxidative phosphorylation
in the peroxisomal disease X-linked adrenoleukodystrophy. Human Mol Genet, 2013

Aug 15;22(16):3296-305 . IF: 7.692 (D1, Biochemistry and Molecular Biology
28/290). & Issue Cover August 15th. & Featured in MDLinx http://www.mdlinx.com/

• M l, G J, r M, c n, s aa, d M, n a, M JJ,
oratóalinouizalinGasantarkoVuMontaudíartínez
aubourG P, Portero-otín M, PaMPlona r, Galea e, beal F, Ferrer i, Fourcade s and PuJol a*.

Pioglitazone halts axonal degeneration in a mouse model of X-adrenoleukodystrophy.
Brain,2013Aug;136(Pt8):2432-43. IF:9.915(D1Neurosciences10/252).&Research
ó
Highlightss in Nature Rev Neurology, July 16 2013 doi:10.1038/nrneurol.2013.141. &
Scientific Commentary by Carlos Moraes, Brain. 2013 Aug;136(Pt 8):2339-41. & Press

release of the European Human Genetics Conference on 08 June 2013, Paris France.

• lPez-erauskin J, Ferrer i, Galea e and PuJol a*. Cyclophilin D as a target for antioxidants
in neurodegeneration: the X-ALD case. Biol Chem, 2013 May;394(5):621-9. Invited

Review. IF: 2.683 (Q3 Biochemistry and Molecular Biology 158/290).

• sinGh J, khan M, PuJol a, baarine M, sinGh i. Histone deacetylase inhibitor upregulates
peroxisomal fatty acid oxidation and inhibits apoptotic cell death in abcd1-deficient

glial cells. PLoS One. 2013 Jul 26;8(7):e70712. IF: 3.730 (Q1 Multidisciplinary

Sciences 7/56).

With our recent results obtained in 2013 we have managed: i) to increase the
Highlights
knowledge about the molecular basis and physiopathogenesis of X -ALD and,

consequently, propose the inclusion of X-ALD in the growing group of secondary
mitochondrial disorders; ii) to identify new therapeutic targets as cyclophilin D,

ATP-synthase or mitochondrial biogenesis drivers, the Sirt1/PGC-1/PPARγ axis;
iii) to identify drugs that reverse the axonal degeneration in the mouse model of

the disease, such as pioglitazone and a combination of antioxidants, both findings

and transferred to phase II clinical trials as well as a licensed patent and a request
of orphan drug for pioglitazone (designation obtained in January 2014 ); iv) to

develop a method for high-throughput screening of FDA approved compounds.

Among the most outstanding first decile publications we include 2 Brain and 1
Human Molecular Genetics, all as last and corresponding author and with the

participation of CIBERER hired researchers. Of those, 1 Brain deserved a scientific
commentary, along with an outline in Nature Reviews Neurology, and the Human

Molecular Genetics highlighted through a figure in the cover of the Journal on last

15 August. 2 of these publications are co-authored by other CIBERER groups and 13
are collaborative with other CIBER. The results of pioglitazone, presented orally at 20
T
the ESHG 2013 Conference, were widely reported by international media.
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Also during 2013 we have participated in the exome sequencing project promoted RE
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from CIBERER and performed in CNAG with undetermined leukodystrophies, from A
which emerged two good candidates that we are currently being analyzed.
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