Gonzàlez-Duarte R - Search Results

1

The UBA-UIM domains of the USP25 regulate the enzyme ubiquitination state and modulate substrate recognition.

Denuc A, Bosch-Comas A, Gonzàlez-Duarte R, Marfany G. Denuc A, et al. PLoS One. 2009;4(5):e5571. doi: 10.1371/journal.pone.0005571. Epub 2009 May 15. PLoS One. 2009. PMID: 19440361 Free PMC article.

2

The ubiquitin-specific protease USP25 interacts with three sarcomeric proteins.

Bosch-Comas A, Lindsten K, Gonzàlez-Duarte R, Masucci MG, Marfany G. Bosch-Comas A, et al. Cell Mol Life Sci. 2006 Mar;63(6):723-34. doi: 10.1007/s00018-005-5533-1. Cell Mol Life Sci. 2006. PMID: 16501887 Free PMC article.

3

Functional implications of the presenilin dimerization: reconstitution of gamma-secretase activity by assembly of a catalytic site at the dimer interface of two catalytically inactive presenilins.

Cervantes S, Saura CA, Pomares E, Gonzàlez-Duarte R, Marfany G. Cervantes S, et al. J Biol Chem. 2004 Aug 27;279(35):36519-29. doi: 10.1074/jbc.M404832200. Epub 2004 Jun 25. J Biol Chem. 2004. PMID: 15220354 Free article.

4

USP25, a novel gene encoding a deubiquitinating enzyme, is located in the gene-poor region 21q11.2.

Valero R, Marfany G, González-Angulo O, González-González G, Puelles L, Gonzàlez-Duarte R. Valero R, et al. Genomics. 1999 Dec 15;62(3):395-405. doi: 10.1006/geno.1999.6025. Genomics. 1999. PMID: 10644437

5

Characterization of alternatively spliced products and tissue-specific isoforms of USP28 and USP25.

Valero R, Bayés M, Francisca Sánchez-Font M, González-Angulo O, Gonzàlez-Duarte R, Marfany G. Valero R, et al. Genome Biol. 2001;2(10):RESEARCH0043. doi: 10.1186/gb-2001-2-10-research0043. Epub 2001 Sep 13. Genome Biol. 2001. PMID: 11597335 Free PMC article.

6

Overexpression of FABP7 in Down syndrome fetal brains is associated with PKNOX1 gene-dosage imbalance.

Sánchez-Font MF, Bosch-Comas A, Gonzàlez-Duarte R, Marfany G. Sánchez-Font MF, et al. Nucleic Acids Res. 2003 Jun 1;31(11):2769-77. doi: 10.1093/nar/gkg396. Nucleic Acids Res. 2003. PMID: 12771203 Free PMC article.

7

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

Tuson M, Marfany G, Gonzàlez-Duarte R. Tuson M, et al. Am J Hum Genet. 2004 Jan;74(1):128-38. doi: 10.1086/381055. Epub 2003 Dec 16. Am J Hum Genet. 2004. PMID: 14681825 Free PMC article.

8

Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress.

Tuson M, Garanto A, Gonzàlez-Duarte R, Marfany G. Tuson M, et al. Mol Vis. 2009;15:168-80. Epub 2009 Jan 21. Mol Vis. 2009. PMID: 19158957 Free PMC article.

9

High-throughput approaches for the genetic diagnosis of retinal dystrophies.

Pomares E, Marfany G, Gonzàlez-Duarte R. Pomares E, et al. Adv Exp Med Biol. 2012;723:329-35. doi: 10.1007/978-1-4614-0631-0_43. Adv Exp Med Biol. 2012. PMID: 22183350 Review. No abstract available.

10

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

de Castro-Miró M, Pomares E, Lorés-Motta L, Tonda R, Dopazo J, Marfany G, Gonzàlez-Duarte R. de Castro-Miró M, et al. PLoS One. 2014 Feb 7;9(2):e88410. doi: 10.1371/journal.pone.0088410. eCollection 2014. PLoS One. 2014. PMID: 24516651 Free PMC article.

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