Methodology
Molecular techniques for RNA and protein analyses (RT-PCR, Western-blot, immunohisto/cytochemistry), cloning, CRISPR/Cas, cell culture, antisense oligonucleotides, zebrafish and mouse models, iPS cells.
Current Research Projects
I have been working of the retinal field since 2005 where I started my scientific career by studying the function of a Retinitis Pigmentosa causative gene.
Afterwards, I moved to the genetic therapy field where I am currently establishing my own group in RNA and DNA editing. For that, I study ways to redirect or modify splicing to edit RNA transcripts, as well as genome editing to alter DNA. In addition, I also study the distribution of therapeutic molecules in the retina using animal and cellular models.
Selected Publications
- Sangermano R*, Garanto A*, Khan M*, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genetics in Medicine - Dulla K., Aguila M., Lane A., Jovanovic K., Parfitt DA., Schulkens I., Chan HL., Schmidt I., Beumer W., Vorthoren L., Collin RWJ., Garanto A., Duijkers L., Brugulat-Panes A., Semo M., Vugler AA., Biasutto P., Adamson P. & Cheetham ME
Splice-modulating oligonucleotide QR-110 restores CEP290 mRNA and function in human c.2991+1655A>G LCA10 models
Molecular Therapy Nucleic Acids - Karjosukarso DW., van Gestel SHC., Qu J., Kouwenhoven EN., Duijkers L., Garanto A., Zhou H.* & Collin RWJ.
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature
Human Molecular Genetics - 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.
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane
Ophthalmology - Garanto A., van der Velde-Visser SD., Cremers FPM. & Collin RWJ.
Antisense oligonucleotide-based splice correction of a deep-intronic mutation in CHM underlying choroideremia
Retinal Degenerative Diseases. Adv Exp Med Biol. - Garanto A. & Collin RWJ.
Design and in vitro use of antisense oligonucleotides to correct pre-mRNA splicing defects in inherited retinal dystrophies
Retinal Gene Therapy. Methods Mol. Biol. - Albert S., Garanto A., Sangermano R., Khan M., Bax N., Hoyng CB., Zernant J., Lee W., Allikmets R., Collin RWJ. & Cremers FPM.
Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt disease
American Journal of Human Genetics - Duijkers L., van den Born LI., Neidhardt J., Bax NM., Pierrache LHM., Klevering BJ., Collin RWJ. & Garanto A.
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290
International Journal of Molecular Sciences - 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
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
Genome Research - 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.
Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh disease
Scientific Reports - Collin RWJ. & Garanto, A.
Applications of antisense oligonucleotides for the treatment of inherited retinal diseases
Current opinion in ophthalmology - 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 RWJ., Kremer H., Roux AF.& Van Wijk E.
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Molecular Therapy Nucleic Acids - Toulis V., Garanto A. & Marfany G.
Combining zebrafish and mouse models to test the function of deubiquitinating enzymes (Dubs) genes in development: Role of USP45 in the retina.
Proteostasis. Methods Mol. Biol. - Gerard X., Garanto A., Rozet JM. & Collin RWJ.
Antisense oligonucleotide therapy for inherited retinal dystrophies
Retinal Degenerative Disease Adv Exp Med Biol. - Garanto A., Chung DC., Duijkers L., Corral-Serrano JC., Messchaert M., Xiao R., Bennett J., Vandenberghe LH. & Collin RWJ.
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery. Human Molecular Genetics
Human Molecular Genetics - 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.
Expression atlas of the deubiquitinating enzymes in the adult mouse retina, their evolutionary diversification and phenotypic roles
PLoS One - 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.
Photoreceptor progenitor mRNA analysis reveals exon skipping due to the ABCA4 c.5461-10T>C mutation in Stargardt disease
Ophthalmology - 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.
Whole exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations
Human Molecular Genetics - Garanto A., Duijkers L. & Collin RWJ.
Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness
International Journal of Molecular Sciences - Abad-Morales V., Domènech EB., Garanto A. & Marfany G.
Expression of the SUMO pathway genes in the mouse retina.
Biology Open - Garanto A., van Beersum SEC., Peters TA., Roepman R., Cremers FPM. & Collin RWJ.
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis
PLoS One - Garanto A., Mandal NA., Egido-Gabás M., Marfany G., Fabriàs G., Anderson RE., Casas J. & Gonzàlez-Duarte R.
Specific sphingolipid content decrease in Cerkl knockdown mouse retinas
Experimental Eye Research - Garanto A., Vicente J., Riera M., De La Villa P., Gonzàlez-Duarte, R. Blanco R. & Marfany G.
Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer
Biochim Biophys Acta - Molecular Basis of Disease - Garanto A., Riera M., Pomares E., Permanyer J., De Castro-Miró M., Sava F. Abril JF., Marfany G. & Gonzàlez-Duarte R.
High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse
Investigative Ophthalmology & Visual Science - Tuson M., Garanto A., Gonzalez-Duarte R. & Marfany G.
Overexpression of CERKL, a gene responsible for Retinitis Pigmentosa in humans, protects cells from apoptosis induced by oxidative stress
Molecular Vision
Alex Garanto |
Research Group
Therapeutic RNA and DNA editing
Research Groups
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