Cruces J - Search Results

1

Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.

Rubio-Fernández M, Uribe ML, Vicente-Tejedor J, Germain F, Susín-Lara C, Quereda C, Montoliu L, de la Villa P, Martín-Nieto J, Cruces J. Rubio-Fernández M, et al. Among authors: cruces j. Sci Rep. 2018 Jun 4;8(1):8543. doi: 10.1038/s41598-018-26855-x. Sci Rep. 2018. PMID: 29867208 Free PMC article.

2

Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.

Haro C, Uribe ML, Quereda C, Cruces J, Martín-Nieto J. Haro C, et al. Among authors: cruces j. Mol Vis. 2018 Jan 20;24:43-58. eCollection 2018. Mol Vis. 2018. PMID: 29416295 Free PMC article.

3

Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors.

Uribe ML, Martín-Nieto J, Quereda C, Rubio-Fernández M, Cruces J, Janssen GMC, de Ru AH, van Veelen PA, Hensbergen PJ. Uribe ML, et al. Among authors: cruces j. J Proteome Res. 2021 Jun 4;20(6):3268-3277. doi: 10.1021/acs.jproteome.1c00126. Epub 2021 May 23. J Proteome Res. 2021. PMID: 34027671 Free PMC article.

4

Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.

Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J. Uribe ML, et al. Among authors: cruces j. Mol Vis. 2016 Jun 16;22:658-73. eCollection 2016. Mol Vis. 2016. PMID: 27375352 Free PMC article.

5

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

Raducu M, Cotarelo RP, Simón R, Camacho A, Rubio-Fernández M, Hernández-Laín A, Cruces J. Raducu M, et al. Among authors: cruces j. J Child Neurol. 2014 Feb;29(2):289-94. doi: 10.1177/0883073813509119. Epub 2013 Nov 25. J Child Neurol. 2014. PMID: 24282183

6

Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome.

Prados B, Peña A, Cotarelo RP, Valero MC, Cruces J. Prados B, et al. Among authors: cruces j. Am J Pathol. 2007 May;170(5):1659-68. doi: 10.2353/ajpath.2007.061264. Am J Pathol. 2007. PMID: 17456771 Free PMC article.

7

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

Raducu M, Baets J, Fano O, Van Coster R, Cruces J. Raducu M, et al. Among authors: cruces j. Eur J Hum Genet. 2012 Sep;20(9):945-52. doi: 10.1038/ejhg.2012.40. Epub 2012 Mar 14. Eur J Hum Genet. 2012. PMID: 22419172 Free PMC article.

8

Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis.

Izquierdo-Lahuerta A, de Luis O, Gómez-Esquer F, Cruces J, Coloma A. Izquierdo-Lahuerta A, et al. Among authors: cruces j. Biochem Biophys Res Commun. 2016 Sep 23;478(3):1043-8. doi: 10.1016/j.bbrc.2016.08.027. Epub 2016 Aug 20. Biochem Biophys Res Commun. 2016. PMID: 27553274

9

Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.

Jurado LA, Coloma A, Cruces J. Jurado LA, et al. Among authors: cruces j. Genomics. 1999 Jun 1;58(2):171-80. doi: 10.1006/geno.1999.5819. Genomics. 1999. PMID: 10366449

10

POMT1 is essential for protein O-mannosylation in mammals.

Lommel M, Willer T, Cruces J, Strahl S. Lommel M, et al. Among authors: cruces j. Methods Enzymol. 2010;479:323-42. doi: 10.1016/S0076-6879(10)79018-2. Methods Enzymol. 2010. PMID: 20816174

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