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Items: 29

1.

Altered Neocortical Dynamics in a Mouse Model of Williams-Beuren Syndrome.

Dasilva M, Navarro-Guzman A, Ortiz-Romero P, Camassa A, Muñoz-Cespedes A, Campuzano V, Sanchez-Vives MV.

Mol Neurobiol. 2019 Aug 30. doi: 10.1007/s12035-019-01732-4. [Epub ahead of print]

PMID:
31471877
2.

Epigallocatechin-3-gallate improves cardiac hypertrophy and short-term memory deficits in a Williams-Beuren syndrome mouse model.

Ortiz-Romero P, Borralleras C, Bosch-Morató M, Guivernau B, Albericio G, Muñoz FJ, Pérez-Jurado LA, Campuzano V.

PLoS One. 2018 Mar 19;13(3):e0194476. doi: 10.1371/journal.pone.0194476. eCollection 2018.

3.

Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome.

Borralleras C, Mato S, Amédée T, Matute C, Mulle C, Pérez-Jurado LA, Campuzano V.

Mol Brain. 2016 Aug 2;9(1):76. doi: 10.1186/s13041-016-0258-7.

4.

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.

Borralleras C, Sahun I, Pérez-Jurado LA, Campuzano V.

Mol Ther. 2015 Nov;23(11):1691-1699. doi: 10.1038/mt.2015.130. Epub 2015 Jul 28.

5.

Metabolic abnormalities in Williams-Beuren syndrome.

Palacios-Verdú MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Pérez-Jurado LA.

J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6.

PMID:
25663682
6.

Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.

Segura-Puimedon M, Sahún I, Velot E, Dubus P, Borralleras C, Rodrigues AJ, Valero MC, Valverde O, Sousa N, Herault Y, Dierssen M, Pérez-Jurado LA, Campuzano V.

Hum Mol Genet. 2014 Dec 15;23(24):6481-94. doi: 10.1093/hmg/ddu368. Epub 2014 Jul 15.

PMID:
25027326
7.

TFII-I regulates target genes in the PI-3K and TGF-β signaling pathways through a novel DNA binding motif.

Segura-Puimedon M, Borralleras C, Pérez-Jurado LA, Campuzano V.

Gene. 2013 Sep 25;527(2):529-36. doi: 10.1016/j.gene.2013.06.050. Epub 2013 Jul 3.

PMID:
23831514
8.

Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.

Campuzano V, Segura-Puimedon M, Terrado V, Sánchez-Rodríguez C, Coustets M, Menacho-Márquez M, Nevado J, Bustelo XR, Francke U, Pérez-Jurado LA.

PLoS Genet. 2012 Feb;8(2):e1002458. doi: 10.1371/journal.pgen.1002458. Epub 2012 Feb 2.

9.

Essential role of the N-terminal region of TFII-I in viability and behavior.

Lucena J, Pezzi S, Aso E, Valero MC, Carreiro C, Dubus P, Sampaio A, Segura M, Barthelemy I, Zindel MY, Sousa N, Barbero JL, Maldonado R, Pérez-Jurado LA, Campuzano V.

BMC Med Genet. 2010 Apr 19;11:61. doi: 10.1186/1471-2350-11-61.

10.

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Cuscó I, Corominas R, Bayés M, Flores R, Rivera-Brugués N, Campuzano V, Pérez-Jurado LA.

Genome Res. 2008 May;18(5):683-94. doi: 10.1101/gr.073197.107. Epub 2008 Feb 21.

11.

[Williams syndrome: its clinical aspects and molecular bases].

Antonell A, Del Campo M, Flores R, Campuzano V, Perez-Jurado LA.

Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75. Review. Spanish.

12.

Protein farnesyltransferase in embryogenesis, adult homeostasis, and tumor development.

Mijimolle N, Velasco J, Dubus P, Guerra C, Weinbaum CA, Casey PJ, Campuzano V, Barbacid M.

Cancer Cell. 2005 Apr;7(4):313-24.

13.

Tumor induction by an endogenous K-ras oncogene is highly dependent on cellular context.

Guerra C, Mijimolle N, Dhawahir A, Dubus P, Barradas M, Serrano M, Campuzano V, Barbacid M.

Cancer Cell. 2003 Aug;4(2):111-20.

14.

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.

McCormack ML, Guttmann RP, Schumann M, Farmer JM, Stolle CA, Campuzano V, Koenig M, Lynch DR.

J Neurol Neurosurg Psychiatry. 2000 May;68(5):661-4.

15.

Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.

Koutnikova H, Campuzano V, Koenig M.

Hum Mol Genet. 1998 Sep;7(9):1485-9.

PMID:
9700204
16.

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.

Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Dürr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M.

Hum Mol Genet. 1997 Oct;6(11):1771-80.

PMID:
9302253
17.

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

Koutnikova H, Campuzano V, Foury F, Dollé P, Cazzalini O, Koenig M.

Nat Genet. 1997 Aug;16(4):345-51.

PMID:
9241270
18.

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M.

Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7452-7.

19.

Frataxin fracas.

Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel JL, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J, De Frutos R, Pianese L, Cavalcanti F, Monticelli A, Cocozza S, Montermini L, Pandolfo M.

Nat Genet. 1997 Apr;15(4):337-8. No abstract available.

PMID:
9090376
20.

Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel JL, Brice A, Koenig M.

N Engl J Med. 1996 Oct 17;335(16):1169-75.

21.

Blue-light receptor requirement for gravitropism, autochemotropism and ethylene response in Phycomyces.

Campuzano V, Galland P, Alvarez MI, Eslava AP.

Photochem Photobiol. 1996 May;63(5):686-94.

PMID:
8628761
22.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.

Science. 1996 Mar 8;271(5254):1423-7.

PMID:
8596916
23.

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.

Montermini L, Rodius F, Pianese L, Moltò MD, Cossée M, Campuzano V, Cavalcanti F, Monticelli A, Palau F, Gyapay G, et al.

Am J Hum Genet. 1995 Nov;57(5):1061-7. Erratum in: Am J Hum Genet 1995 Dec;57(6):1520.

24.

Isolation, characterization and transformation, by autonomous replication, of Mucor circinelloides OMPdecase-deficient mutants.

Benito EP, Campuzano V, Lŏpez-Matas MA, De Vicente JI, Eslava AP.

Mol Gen Genet. 1995 Jul 28;248(2):126-35.

PMID:
7651335
25.

Genetic characterization of two phototropism mutants of Phycomyces with defects in the genes madI and madJ.

Campuzano V, Galland P, Eslava AP, Alvarez MI.

Curr Genet. 1995 May;27(6):524-7.

PMID:
7553936
26.

Isolation and characterization of phototropism mutants of Phycomyces insensitive to ultraviolet light.

Campuzano V, Galland P, Senger H, Alvarez MI, Eslava AP.

Curr Genet. 1994 Jul;26(1):49-53.

PMID:
7954896
27.

Isolation, characterization and mapping of pyrimidine auxotrophs of Phycomyces blakesleeanus.

Campuzano V, del Valle P, de Vicente JI, Eslava AP, Alvarez MI.

Curr Genet. 1993 Dec;24(6):515-9.

PMID:
8299173
28.
29.

A new gene (madI) involved in the phototropic response of Phycomyces.

Campuzano V, Díaz-Mínguez JM, Eslava AP, Alvarez MI.

Mol Gen Genet. 1990 Aug;223(1):148-51.

PMID:
2259336

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