Neurosciences

Overview

The Neuroscience area is consolidating its position as one of the largest clusters of research labs working on neurological diseases across Europe. At present, the area comprises 14 groups with more than one hundred fully dedicated researchers in close contact with top clinicians in the hospital. These research groups pursue a better and multifaceted understanding of the etiopathogenic mechanisms underlying a large variety of mostly adult but also pediatric neurological disorders including stroke, multiple sclerosis, Alzheimer’s disease, Parkinson’s disease, primary headaches, epilepsy, neuromuscular disorders, and also neurosurgical and psychiatric pathologies. The area also integrates groups involved in neuroimaging, analysis and interpretation of high-throughput data, and gene therapy strategies to target inflammatory and neurodegenerative neurological conditions.

Publications

276

total

1952

impact factor

7.07

average impact factor

Group Leader: Xavier de la Cruz Montserrat

team

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In 2019, we have pursued our efforts to understand the molecular basis of hereditary disease. We are pleased to note that these efforts are gaining international recognition. We have made significant advances modeling the effect of BRCA1/2 variants underlying Hereditary Breast and Ovarian Cancers. This research has crystallized in a computational tool (Padilla et al., 2019) presented at the international challenge CAGI, in which we ranked second in the identification of sequence variants for these cancers (Cline et al., 2019). We are also participating, as leading bioinformaticians, in an international effort led by the Children’s Hospital of Pennsylvania (USA) for the characterization of a novel pediatric neurologic disorder.

Another research line that has progressed in 2019 is the collaboration with the group of M. Martínez-Balbas (CSIC) that has led to finding the role of PHF2 in the regulation of DNA damage and genome instability, a work published in PNAS (Pappa et al., 2019).

7

total

39

impact factor

5^.60

average impact factor

SELECTED ARTICLES

Pappa, S, Padilla, N, Iacobucci, S, Vicioso, M, Álvarez de la Campa, E, Navarro, C, Marcos, E, de la Cruz, X, Martínez-Balbás, MA
PHF2 histone demethylase prevents DNA damage and genome instability by controlling cell cycle progression of neural progenitors”
Proc Natl Acad Sci U S A. 2019 Sep 24;116(39):19464-19473.
doi: 10.1073/pnas.1903188116.
IF: 9.58
Marín, O, Aguirre, J, de la Cruz, X.
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity
Sci Rep. 2019 Jul 2;9(1):9538.
doi: 10.1038/s41598-019-45916-3.
IF: 4.01
Padilla, N, Moles-Fernández, A, Riera, C, Montalban, G, Özkan, S, Ootes, L, Bonache, S, Díez, O, Gutiérrez-Enríquez, S, de la Cruz, X
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge
Hum Mutat. 2019 Sep;40(9):1593-1611.
doi: 10.1002/humu.23802.
IF: 4.45
Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Diez O, Gutierrez-Enriquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernandez A, Montalban G, Mooney SD, O’Conner R, Ootes L, Ozkan S, Padilla N, Pagel KA, Pejaver V, Radivojac P, Riera C, Savojardo C, Shen Y, Sun Y, Topper S, Parsons MT, Spurdle AB, Goldgar DE
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
Hum Mutat. 2019 Sep;40(9):1546-1556
doi: 10.1002/humu.23861
IF: 4.45
Sanchez-Mora C, Artigas MS, Garcia-Martinez I, Pagerols M, Rovira P, Richarte V, Corrales M, Fadeuilhe C, Padilla N, de la Cruz X, Franke B, Arias-Vasquez A, Casas M, Ramos-Quiroga JA, Ribases M
Epigenetic signature for attention-deficit/hyperactivity disorder: identification of miR-26b-5p, miR-185-5p, and miR-191-5p as potential biomarkers in peripheral blood mononuclear cells
Neuropsychopharmacology. 2019 Apr;44(5):890-897
doi: 10.1038/s41386-018-0297-0
IF: 7.16

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