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Maria Arbonés

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Katherine R Martin; Tobias D Merson; Tomris Mustafa; Helena C Parkington; Silvia Porta; Maria L Arbonés; James A Bourne; Harold A Coleman; Alicia Corlett; Daphne Dubach; David I Finkelstein; Melanie A Pritchard
Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory.
Franziska M Oeschger; Sonja Rakic; Wei-Zhi Wang; Maria L Arbonés; Fernando García-Moreno; André M Goffinet; Sheena Lee; Zoltán Molnár
Gene expression analysis of the embryonic subplate.
Glòria Arqué; María Martínez de Lagrán; Maria L Arbonés; Mara Dierssen
Age-associated motor and visuo-spatial learning phenotype in Dyrk1A heterozygous mutant mice.

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All Publications

2012: Katherine R Martin; Tobias D Merson; Tomris Mustafa; Helena C Parkington; Silvia Porta; Maria L Arbonés; James A Bourne; Harold A Coleman; Alicia Corlett; Daphne Dubach; David I Finkelstein; Melanie A Pritchard
Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory.
Human molecular genetics 2012;21(13):3025-41.
2012: Franziska M Oeschger; Sonja Rakic; Wei-Zhi Wang; Maria L Arbonés; Fernando García-Moreno; André M Goffinet; Sheena Lee; Zoltán Molnár
Gene expression analysis of the embryonic subplate.
Cerebral cortex (New York, N.Y. : 1991) 2012;22(6):1343-59.
2009: Glòria Arqué; María Martínez de Lagrán; Maria L Arbonés; Mara Dierssen
Age-associated motor and visuo-spatial learning phenotype in Dyrk1A heterozygous mutant mice.
Neurobiology of disease 2009;36(2):312-9.
2008: Damien J Keating; Daphne Dubach; Mark P Zanin; Yong Yu; Katherine Martin; Yu-Feng Zhao; Chen Chen; Silvia Porta; Maria L Arbonés; Laureane Mittaz; Melanie A Pritchard
DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease.
Human molecular genetics 2008;17(7):1020-30.
2008: Glòria Arqué; Vassiliki Fotaki; David Fernández; María Martínez de Lagrán; Maria L Arbonés; Mara Dierssen
Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A).
PloS one 2008;3(7):e2575.
2007: Silvia Porta; Eulàlia Martí; Susana de la Luna; Maria L Arbonés
Differential expression of members of the RCAN family of calcineurin regulators suggests selective functions for these proteins in the brain.
The European journal of neuroscience 2007;26(5):1213-26.
2007: Silvia Porta; Selma A Serra; Meritxell Huch; Miguel A Valverde; Franc Llorens; Xavier Estivill; Maria L Arbonés; Eulàlia Martí
RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.
Human molecular genetics 2007;16(9):1039-50.
2005: Ruth Benavides-Piccione; Mara Dierssen; Inmaculada Ballesteros-Yáñez; María Martínez de Lagrán; Maria L Arbonés; Vassiliki Fotaki; Javier DeFelipe; Guy N Elston
Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse.
Neurobiology of disease 2005;20(1):115-22.
2004: Vassiliki Fotaki; María Martínez de Lagrán; Xavier Estivill; Maria L Arbonés; Mara Dierssen
Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity.
Behavioral neuroscience 2004;118(4):815-21.
2003: Lidia Feliubadaló; Maria L Arbonés; Sandra Mañas; Josep Chillarón; Joana Visa; Margot Rodés; Ferran Rousaud; Antonio Zorzano; Manuel Palacín; Virginia Nunes
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
Human molecular genetics 2003;12(17):2097-108.
2002: Núria López-Bigas; Maria L Arbonés; Xavier Estivill; Lionel Simonneau
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea.
Mechanisms of development 2002;119 Suppl 1():S111-5.
2002: Núria López-Bigas; Maria L Arbonés; Xavier Estivill; Lionel Simonneau
Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea.
Gene expression patterns : GEP 2002;2(1-2):113-7.
2002: Vassiliki Fotaki; Mara Dierssen; Soledad Alcántara; Salvador Martínez; Eulàlia Martí; caty casas; Joana Visa; Eduardo Soriano; Xavier Estivill; Maria L Arbonés
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.
Molecular and cellular biology 2002;22(18):6636-47.
2002: Mara Dierssen; Vassiliki Fotaki; María Martínez de Lagrán; M Gratacós; Maria L Arbonés; Cristina Fillat; Xavier Estivill
Neurobehavioral development of two mouse lines commonly used in transgenic studies.
Pharmacology, biochemistry, and behavior 2002;73(1):19-25.
2002: Núria López-Bigas; Salvatore Melchionda; Rafael de Cid; A Grifa; Leopoldo Zelante; N Govea; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2002;20(1):77-8.
2002: Núria López-Bigas; Salvatore Melchionda; Paolo Gasparini; Alfonso Borragán; Maria L Arbonés; Xavier Estivill
A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families.
Human mutation 2002;19(4):458.
2001: Núria López-Bigas; Salvatore Melchionda; Rafael de Cid; A Grifa; Leopoldo Zelante; N Govea; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation 2001;18(6):548.
2001: Mara Dierssen; Cristina Fillat; L Crnic; Maria L Arbonés; Jesús Flórez; Xavier Estivill
Murine models for Down syndrome.
Physiology & behavior 2001;73(5):859-71.
2001: Núria López-Bigas; Montse Olivé; Raquel Rabionet; Orit Ben-David; Juan Antonio Martínez-Matos; Olga Bravo; Isabel Banchs; Victor Volpini; Paolo Gasparini; Karen B Avraham; Isidro Ferrer; Maria L Arbonés; Xavier Estivill
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
Human molecular genetics 2001;10(9):947-52.
2001: caty casas; S Martínez; MA Pritchard; Juan J Fuentes; marga nadal; J Guimerà; Maria L Arbonés; Jesús Flórez; Eduardo Soriano; Xavier Estivill; Soledad Alcántara
Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis.
Mechanisms of development 2001;101(1-2):289-92.
2001: Mara Dierssen; Eulàlia Martí; C Pucharcós; Vassiliki Fotaki; Xavier Altafaj; K Casas; A Solans; Maria L Arbonés; Cristina Fillat; Xavier Estivill
Functional genomics of Down syndrome: a multidisciplinary approach.
Journal of neural transmission. Supplementum 2001;(61):131-48.
2001: Núria López-Bigas; Raquel Rabionet; Maria L Arbonés; Xavier Estivill
R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
European journal of human genetics : EJHG 2001;9(1):70.
2000: Núria López-Bigas; Raquel Rabionet; E Martínez; Isabel Banchs; Victor Volpini; Jeffery Vance; Maria L Arbonés; Xavier Estivill
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
Human mutation 2000;15(5):481-2.
2000: Núria López-Bigas; Raquel Rabionet; E Martinez; Olga Bravo; J Girons; A Borragan; M Pellicer; Maria L Arbonés; Xavier Estivill
Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.
American journal of human genetics 2000;66(4):1465-7.
2000: Raquel Rabionet; Leopoldo Zelante; Núria López-Bigas; L D'Agruma; Salvatore Melchionda; G Restagno; Maria L Arbonés; Paolo Gasparini; Xavier Estivill
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
Human genetics 2000;106(1):40-4.
1999: C Pucharcós; Juan J Fuentes; caty casas; Susana de la Luna; Soledad Alcántara; Maria L Arbonés; Eduardo Soriano; Xavier Estivill; M Pritchard
Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome.
European journal of human genetics : EJHG 1999;7(6):704-12.
1999: Núria López-Bigas; Raquel Rabionet; Rafael de Cid; N Govea; Paolo Gasparini; Leopoldo Zelante; Maria L Arbonés; Xavier Estivill
Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.
Human mutation 1999;14(6):520-6.