Page 139 - MemoriaER-Eng

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• F-c X, F a, b n, n-s a, M l, a Ja,r e,
errerortèsontuJanaVarroastreatalonGarranziudordel Most relevant
toro M, García-cazorla a, caMPistol J, briones P, ribes a, tort F. Protein expression pro-
scientific
files in patients carrying NFU1 mutations. Contribution to the pathophysiology of the
articles
disease. J Inherit Metab Dis. 2013 Sep;36(5):841-847. IF: 4.05; 1er cuartil.

• tiscornia G, ViVas el, MatalonGa l, berniakoVich i, barraGán Monasterio M, eGuizábal c,
G l, G F, o M c, G F JM, r a, V a, i b
ortonzálezrtizelletarcíaernándezibeseiGazPisuaelMonte
Jc. Neuronopathic Gaucher’s disease: induced pluripotent stem cells for disease mo-

delling and testing chaperone activity of small compounds. Hum Mol Genet. 2013 Feb
15;22(4):633-45. ; IF: 7.692; 1er decil.

• delGadillo V, o’callaGhan Mdel M, Gort l, coll MJ, Pineda M. Natural history of Sanfilippo

syndrome in Spain. Orphanet J Rare Dis. 2013 Dec 6;8:189. IF: 4.315; 1er cuartil.
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zouz h, bratkoVic d, de brouWer a, haMel b, kleeFstra t, ynteMa h, caMPistol J, Vilaseca Ma,
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der haar s, MeiJers-heiJboer he, hoFstede F, Johnson d, kant sG, lion-Francois l, Pitelet G,

lonGo n, Maat-kieVit Ja, Monteiro JP, Munnich a, Muntau ac, nassoGne Mc, osaka h, ounaP í
k, Pinard JM, quiJano-roy s, PoGGenburG i, PoPlaWski n, abdul-rahMan o, ribes a, arias a,

yaPlito-lee J, schulze a, schWartz ce, schWenGer s, soares G, sznaJer y, ValayannoPoulos
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Mancini GM, saloMons Gs. Phenotype and genotype in 101 males with X-linked creatine
transporter deficiency. J Med Genet. 2013 Jul;50(7):463-472; IF:6.365; 1er decil.
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• t F, F-c X, t M, n-s a, M l, q e, b n, a
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a, Garca-Villoria J, acquaViVa c, Vianey-saban c, artuch r, García-cazorla à,briones P, ribes
a. Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with

a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. Hum Mol Ge-
net. 2014 Apr 1;23(7):1907-15. doi: 10.1093/hmg/ddt585. Epub 2013 Nov 20. PMID:

24256811; IF: 7.692; 1er decil.

RESULTS: Inside the line of identification of genes responsible for inherited metabolic di-
Highlights
seases it is worth to mention the identification LIPT1 gene in a patient with lactic acidemia.

We have shown that the corresponding protein is responsible for the transfer of lipoic acid
to the E2 subunit of 2-oxo- mitochondrial dehydrogenases , but not to the H -subunit of

the glycine cleavage . This finding represented a new milestone in the understanding of the
metabolic pathway of lipoic acid. It is remarkable that this work received the award for the
í
best oral presentation at the 12th International Congress of Inborn Errors of Metabolism
(ICIEM , September 2013).

PUBLICATIONS AND PROJECTS: In 2013 were made 20 publications in journals with impact

factor, three were in the first decile and four in the first quartile. We have obtained three

competitive projects (1 FIS and 2 European projects ) and a contract with BioMarin Ltd.

TRANSLATION: The most important achievement has been the expansion of newborn
screening to 22 diseases for all newborns of Catalunya. This program has incorporated Aleix 13
20
Navarro-Sastre, who from 2006 was contracted CIBERER , having made its pre-and – post T
doctoral training in our group.
OR
P
TRANSFER: We have made a patent about a compound that works by stimulating the lyso- RE
L
somal exocytosis.
A
NU
Title: Exocytosis activating compounds. Inventors: Josep Farrera - Sinfreu , Leslie Mata- N
A
longa Borrel , Laura Gort But Roberto Pascual Martnez , Antonio Ferrer Montiel, Antonia R /
Ribes Rubio , Berta Ponsati Obiols Application No.: EP13382541.4. Priority country: Europe. E
ER
Priority Data: 23/12/2013. Entity headline BCN PEPTIDES , S.A.
B
CI
INTERNATIONALIZATION: Organization of the 12th International Congress of Inborn Errors
of Metabolism (ICIEM, Barcelona, September 2013). The PI of the group has been co-presi-
139
dent of the congress and the entire group has been part of the local organizing committee.