ZFIN ID: ZDB-PERS-180523-1
Granato, Alex
Email: alex.garanto@radboudumc.nl
Affiliation: Molecular Therapies for Inherited Eye Disorders
Address: Dept. of Human Genetics Radboud university medical centre Geert Grooteplein 10 6525 GA Nijmegen
Country: Netherlands

I started my PhD project in the field of Genetics after finishing my studies in Biology at the University of Barcelona. It consisted in elucidating the function of CERKL, an inherited retinal dystrophy gene, as well as the characterization of a knockout mouse model for this gene. After my PhD, I studied the contribution of Ubiquitin and Sumo signalling in the determination of photoreceptor cell fate. In October 2012, I started as a postdoc in the Blindness Genetic Therapy group at the Department of Human Genetics of the Radboud University Medical Center. During this time I contributed to the development of novel therapeutic interventions for Inherited Retinal Disorders. I am currently starting my own group on Therapeutic RNA and DNA editing at the Department of Human Genetics of the Radboudumc.

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.
Corominas J., Colijn JM., Geerlings MJ., Pauper M., Bakker B., Amin N., Lores Motta L., Kersten E., Garanto A., Verlouw JAM., van Rooij JGJ., Kraaij R., de Jong PTVM., Hofman A., Vingerling JR., Schick T., Fauser S., de Jong EK., van Duijn CM., Hoyng CB., Klaver CCW. & den Hollander AI.
Ophthalmology. Apr 26. pii: S0161-6420(17)33149-4 (2018)

Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt disease
Albert S.*, Garanto A.*, Sangermano R., Khan M., Bax N., Hoyng CB., Zernant J., Lee W., Allikmets R., Collin RWJ. & Cremers FPM.
American Journal of Human Genetics. Apr 5;102(4):517-527 (2018)
* Contributed equally to this work

Antisense oligonucleotide-based splicing correction in individuals with CEP290-associated Leber congenital amaurosis compound heterozygous for the c.2991+1655A>G mutation
Duijkers L., van den Born LI., Neidhardt J., Bax N., Pierrache L., Klevering JB., Collin RWJ. & Garanto A.
International Journal of Molecular Sciences. Mar 7;19(3). pii: E753 (2018)

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
Sangermano R, Khan M, Cornelis SS, Richelle V, Albert S, Garanto A, Elmelik D, Qamar R, Lugtenberg D, van den Born LI, Collin RWJ, Cremers FPM.
Genome Research Jan;28(1):100-110 (2018)

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh disease
de Haas R., Das D., Garanto A., Renkema HG., Greupink R., van den Broek P., Pertijs J., Collin RWJ., Willems P, Beyrath J., Heerschap A., Russel FG. & Smeitink JA.
Scientific Reports Sep 15;7(1):11733 (2017)

Applications of antisense oligonucleotides for the treatment of inherited retinal diseases
Collin RWJ. & Garanto, A.
Current opinion in ophthalmology May;28(3):260-266 (2017)

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Slijkerman RW., Vaché C., Dona M., García-García G., Claustres M., Hetterschijt L., Peters TA., Hartel BP., Pennings RJ., Millan JM., Aller E., Garanto A., Collin RW., Kremer H., Roux AF.& Van Wijk E.
Molecular Therapy Nucleic Acids Nov 1;5(10):e381 (2016)

In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery. Human Molecular Genetics
Garanto A., Chung DC., Duijkers L., Corral-Serrano JC., Messchaert M., Xiao R., Bennett J., Vandenberghe LH. & Collin RWJ.
Human Molecular Genetics Apr 22 ddw118 (2016)

Expression atlas of the deubiquitinating enzymes in the adult mouse retina, their evolutionary diversification and phenotypic roles
Esquerdo M., Grau-Bové X., Garanto A., Toulis V., Garcia-Monclús S., Millo E., López-Iniesta MJ., Abad-Morales V., Ruiz-Trillo I. & Marfany G.
PLoS One Mar 2;11(3):e0150364 (2016)

Photoreceptor progenitor mRNA analysis reveals exon skipping due to the ABCA4 c.5461-10T>C mutation in Stargardt disease
Sangermano R., Bax N., Bauwens M., van den Born LI., de Baere E., Garanto A., Collin RWJ., Goercharn-Ramlal ASA., Engelsman-van Dijk AHA., Rohrschneider K., Hoyng CB., Cremers FPM. & Albert S.
Ophthalmology Jun;123(6):1375-85 (2016)

Whole exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations
Avila-Fernandez A., Perez-Carro R., Corton M., Lopez-Molina MI., Campello L., Garanto A., Fernandez-Sanchez L., Duijkers L., Lopez-Martinez MA., Riveiro-Alvarez R., Rodrigues Jacy da Silva L., Sanchez-Alcudia R., Martin-Garrido E., Reyes N., Garcia-Garcia F., Dopazo J., Garcia-Sandoval B., Collin RWJ., Cuenca N. & Ayuso C.
Human Molecular Genetics Jul 15;24(14):4037-48 (2015)

Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness
Garanto A., Duijkers L. & Collin RWJ.
International Journal of Molecular Sciences 16(3), 5285-5298 (2015)

Expression of the SUMO pathway genes in the mouse retina.
Abad-Morales V., Domènech EB., Garanto A. & Marfany G.
Biology Open 4:224-232 (2015)

Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis
Garanto A., van Beersum SEC., Peters TA., Roepman R., Cremers FPM. & Collin RWJ.
PLoS One. 8(11): e79369 (2013).

Specific sphingolipid content decrease in Cerkl knockdown mouse retinas
Garanto A., Mandal NA., Egido-Gabás M., Marfany G., Fabriàs G., Anderson RE., Casas J. & Gonzàlez-Duarte R.
Experimental Eye Research 110:96-106 (2013).

Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer
Garanto A., Vicente J., Riera M., De La Villa P., Gonzàlez-Duarte R., Blanco R. & Marfany G.
Biochim Biophys Acta - Molecular Basis of Disease 1822: 1258-1269 (2012).

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse
Garanto A., Riera M., Pomares E., Permanyer J., De Castro-Miró M., Sava F. Abril JF., Marfany G. & Gonzàlez-Duarte R.
Investigative Ophthalmology & Visual Science 52: 5202-5214 (2011).

Overexpression of CERKL, a gene responsible for Retinitis Pigmentosa in humans, protects cells from apoptosis induced by oxidative stress
Tuson M.*, Garanto A.*, Gonzalez-Duarte R. & Marfany G.
Molecular Vision 15: 168-180 (2009)
* Contributed equally to this work

Book chapters

Antisense oligonucleotide-based splice correction of a deep-intronic mutation in CHM underlying choroideremia
Garanto A., van der Velde-Visser SD., Cremers FPM. & Collin RWJ.
Retinal Degenerative Diseases. Adv Exp Med Biol. 2018;1074:83-89

Design and in vitro use of antisense oligonucleotides to correct pre-mRNA splicing defects in inherited retinal dystrophies
Garanto A. & Collin RWJ.
Retinal Gene Therapy. Methods Mol. Biol. 2018;1715:61-78

Combining zebrafish and mouse models to test the function of deubiquitinating enzymes (Dubs) genes in development: Role of USP45 in the retina.
Toulis V., Garanto A. & Marfany G.
Proteostasis. Methods Mol. Biol. 2016;1449:85-101

Antisense oligonucleotide therapy for inherited retinal dystrophies
Gerard X., Garanto A., Rozet JM. & Collin RWJ.
Retinal Degenerative Diseases. Adv Exp Med Biol. 2016;854:517-24