Alejandro Garanto

Alejandro Garanto

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Alejandro Garanto

Alejandro Garanto

Publications by authors named "Alejandro Garanto"

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32Publications

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In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.

Int J Mol Sci 2020 Mar 26;21(7). Epub 2020 Mar 26.

Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/ijms21072300DOI Listing
March 2020

RNA-Based Therapeutic Strategies for Inherited Retinal Dystrophies.

Adv Exp Med Biol 2019 ;1185:71-77

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/978-3-030-27378-1_12DOI Listing
February 2020

Preface of Special Issue "Molecular Therapies for Inherited Retinal Diseases".

Genes (Basel) 2020 02 5;11(2). Epub 2020 Feb 5.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/genes11020169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7074026PMC
February 2020

Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.

Genes (Basel) 2019 08 28;10(9). Epub 2019 Aug 28.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/genes10090654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770110PMC
August 2019

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic Variant c.4539+2001G>A in Stargardt Disease.

Genes (Basel) 2019 06 14;10(6). Epub 2019 Jun 14.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525GA Nijmegen, The Netherlands.

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https://www.mdpi.com/2073-4425/10/6/452
Publisher Site
http://dx.doi.org/10.3390/genes10060452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628380PMC
June 2019

Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.

Adv Exp Med Biol 2018 ;1074:83-89

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://link.springer.com/10.1007/978-3-319-75402-4_11
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http://dx.doi.org/10.1007/978-3-319-75402-4_11DOI Listing
May 2019

An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.

Hum Mol Genet 2018 10;27(20):3519-3527

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.1093/hmg/ddy244DOI Listing
October 2018

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.

Ophthalmology 2018 09 26;125(9):1433-1443. Epub 2018 Apr 26.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104593PMC
September 2018

Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.

Methods Mol Biol 2018 ;1715:61-78

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-7522-8_5DOI Listing
July 2018

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Am J Hum Genet 2018 04 8;102(4):517-527. Epub 2018 Mar 8.

Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 EN Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985352PMC
April 2018

Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina.

Methods Mol Biol 2016 ;1449:85-101

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Avda. Diagonal 643, 08028, Barcelona, Spain.

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http://dx.doi.org/10.1007/978-1-4939-3756-1_3DOI Listing
January 2018

midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Genome Res 2018 01 21;28(1):100-110. Epub 2017 Nov 21.

Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1101/gr.226621.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749174PMC
January 2018

Applications of antisense oligonucleotides for the treatment of inherited retinal diseases.

Curr Opin Ophthalmol 2017 May;28(3):260-266

aDepartment of Human Genetics bDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1097/ICU.0000000000000363DOI Listing
May 2017

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

Ophthalmology 2016 06 12;123(6):1375-85. Epub 2016 Mar 12.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute of Molecular Life Sciences, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.053DOI Listing
June 2016

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

Adv Exp Med Biol 2016 ;854:517-24

Department of Human Genetics (855), Radboud Institute for Molecular Life Sciences Radboud University Medical Center, Geert Grooteplein 10, 6525, Nijmegen, GA, The Netherlands.

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http://dx.doi.org/10.1007/978-3-319-17121-0_69DOI Listing
April 2016

Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.

Int J Mol Sci 2015 Mar 9;16(3):5285-98. Epub 2015 Mar 9.

Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/ijms16035285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394476PMC
March 2015

mRNA expression analysis of the SUMO pathway genes in the adult mouse retina.

Biol Open 2015 Jan 23;4(2):224-32. Epub 2015 Jan 23.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Spain

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http://dx.doi.org/10.1242/bio.201410645DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365491PMC
January 2015

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.

PLoS One 2013 6;8(11):e79369. Epub 2013 Nov 6.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands ; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079369PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819269PMC
August 2014

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas.

Exp Eye Res 2013 May 15;110:96-106. Epub 2013 Mar 15.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.exer.2013.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019014PMC
May 2013

Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer.

Biochim Biophys Acta 2012 Aug 19;1822(8):1258-69. Epub 2012 Apr 19.

Departament de Genètica, Facultat de Biologia, Spain.

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http://dx.doi.org/10.1016/j.bbadis.2012.04.004DOI Listing
August 2012

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.

Invest Ophthalmol Vis Sci 2011 Jul 13;52(8):5202-14. Epub 2011 Jul 13.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1167/iovs.10-7101DOI Listing
July 2011

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

Mol Vis 2009 21;15:168-80. Epub 2009 Jan 21.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2628313PMC
May 2009