You are here: vision-research.eu » People » Young Researcher » Garanto, Alex

Alex Garanto

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

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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.
  6. 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.
  7. 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
  8. 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
  9. 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
  10. 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
  11. Collin RWJ. & Garanto, A.
    Applications of antisense oligonucleotides for the treatment of inherited retinal diseases
    Current opinion in ophthalmology
  12. 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
  13. 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.
  14. Gerard X., Garanto A., Rozet JM. & Collin RWJ.
    Antisense oligonucleotide therapy for inherited retinal dystrophies
    Retinal Degenerative Disease Adv Exp Med Biol.
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. Abad-Morales V., Domènech EB., Garanto A. & Marfany G.
    Expression of the SUMO pathway genes in the mouse retina.
    Biology Open
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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

Contact

Radboud Universität, Nijmegen Medical Centre

Department of Human Genetics

Geert Grooteplein-Zuid 10 (route 855)
6525 GA
Nijmegen
Netherlands

Phone: +31 36 24 14107
E-mail: alex.garanto[at]radboudumc.nl
Website: www.radboudumc.nl/en/people/alex-garanto

Documents

CV of Alex Garanto [pdf]

Research Groups