Page 113 - MemoriaER-Eng

www.ciberer.es

• Chewing-induced segmental myoclonus in a patient with Leigh syndrome. n-
Most relevant aVarro
otano J, Valls-solé J, Guaita M, santaMaria J, cardellach F, Muñoz e. Mov Disord. 2013
scientific
Oct;28(12):1756-7. PMID: 23780927.
articles
• Study of oxidative, enzymatic mitochondrial respiratory chain function and apoptosis in
perinatally HIV-infected pediatric patients. Morén c, Garrabou G, noGuera-Julian a, roVira n,

catalán M, hernández s, tobías e, cardellach F, Fortuny c, Miró Ò. Drug Chem Toxicol. 2013
Oct;36(4):496-500. PMID: 23534415.

• First description of phosphofructokinase deficiency in spain: identification of a novel ho-

mozygous missense mutation in the PFKM gene. ViVes-corrons Jl, koralkoVa P, Grau JM,
M P M M, V W r. Front Physiol. 2013 Dec 30;4:393. PMID: 24427140.
añúereiradelaniJk
• AGC1-malate aspartate shuttle activity is critical for dopamine handling in the nigrostriatal

pathway. llorente-Folch i, sahún i, contreras l, casareJos MJ, Grau JM, saheki t, Mena Ma,
s J, d M, P b. J n. 2013 Feb;124(3):347-62. PMID: 23216354.
atrústeGuiierssenardoeurocheM
•
Increased IL-17A expression in temporal artery lesions is a predictor of sustained res-
ponse to glucocorticoid treatment in patients with giant-cell arteritis. esPíGol-FriGolé G,

corbera-bellalta M, Planas-riGol e, lozano e, seGarra M, García-Martínez a, Prieto-Gonzá-
lez s, hernández-rodríGuez J, Grau JM, rahMan Mu, cid Mc. Ann Rheum Dis. 2013 Sep

1;72(9):1481-7. PMID: 22993227.

Highlights
Our group is a multidisciplinary team of basic and clinic researchers with transla-
tional activity in the management of patients and research in the molecular basis,

biomarkers and potential treatments for associated diseases. Along 2013 we have
participated in:

• PIBER-1 with the PdI-Mitochondrial Medicine to study the EXOMA of patients

with mitochondrial RD.

• PIBER-2 with units U701-U717-U723-U727 to study mitochondrial DNA mainte-

nance syndromes, depletion and multiple deletions.

• PIBER-3 and 4 for clinic and therapeutic research in: (a) muscle pathology (gene
therapy in MNGIE with units U701-U714 and research in new biomarkers in IBM

with unit U703 or in poly/dermatomyosits with unit U713); (b) secondary mito-
chondriopathies (with units U701-U727); (c) mitochondrial implication in rare/

common obstetric diseases (including IUGR with unit U719) or neurodegenera-

tive disorders (including X-fragile syndrome with unit U726 or Parkinson disease
with the CIBERNED). These projects, granted by 4 FIS,1 ACCI and 2 FIPSE, coex-

ist with non granted projects with units U743-U713-U701-U727-U737.

• PITER-1 in: (a) diagnosis of RD (with units U701-U729-U717-U737); (b) trans-

lation to the NHS of diagnostic procedures (with units U717-U737-U701-U723-
U727-U729); (c) clinical guidelines; and (d) the creation of the ‘Unit of adult

patients with inborn errors of metabolism’ and the ’Work team in adult RD’ inte- 13
grated by units U703-U737-U722 and different services of the HCB.
20
T
• PITER-2 through the donation to the CIBERER-biobank of multiple samples from OR
P
patients with RD.
RE
L
• PITER-3 for the formation of students (in 2013 2 grade students; 3 master stu- A
NU
dents; 2 PhD-students; 1 predoctoral CIBERER researcher; 5 residents), CIBER- N
ER tutorial program and university classes (grade/master).
A
R /
We take part of mobility programs, CIBERER courses/meetings, publications, inter- E
ER
national congresses, clinical guidelines and consultant assistance of patients with B
CI
RD directed to the CIBERER.
Our future perspective is directed to the translational research/diagnosis in RD,
113
strengthen the 2 Units of patients with RD above mentioned.