Lysosomal Storage Disorders: diagnosis and treatment development

Lysosomal Storage Disorders: diagnosis and treatment development

Description

We are involved in clinical diagnosis through screening studies, variants characterization and histopathological analysis. We look at molecular mechanisms of these disorders to unravel the link between LSDs, neurodegenerative diseases, chronic inflammation or cellular senescence, through the study of lysosomal function.
Finally we are seeking to develop more efficient therapies by developing new gene therapy vectors and small molecules.

Team

1. The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models. Besada P, Gallardo-Gómez M, Pérez-Márquez T, Patiño-Álvarez L, Pantano S, Silva-López C, Terán C, Arévalo-Gómez A, Ruz-Zafra A, Fernández-Martín J, Ortolano S. The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models. Biomolecules. 2021 Dec 10;11(12):1856. doi: 10.3390/biom11121856.
2. Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A.
   Biferi MG, Cohen-Tannoudji M, García-Silva A, Souto-Rodríguez O, Viéitez-González I, San-Millán-Tejado B, Fernández-Carrera A, Pérez-Márquez T, Teijeira-Bautista S, Barrera S, Domínguez V, Marais T, González-Fernández Á, Barkats M, Ortolano S. Mol Ther Methods Clin Dev. 2020 Oct 22; 20:1-17 doi: 10.1016/j.omtm.2020.10.016
3. Fabry disease in the Spanish population: observational study with detection of 77 patients.
   Vieitez I, Souto-Rodriguez O, Fernandez-Mosquera L, San Millan B, Teijeira S, Fernandez-Martin J, Martinez-Sanchez F, Aldamiz-Echevarria LJ, Lopez-Rodriguez M, Navarro C, Ortolano S. Orphanet J Rare Dis. 2018 Apr 10;13(1):52. doi: 10.1186/s13023-018-0792-8.
4. Newborn screening for Fabry disease in the north-west of Spain. Colon C, Ortolano S, Melcon-Crespo C, Alvarez JV, Lopez-Suarez OE, Couce ML, Fernández-Lorenzo JR.Eur J Pediatr. 2017 Aug;176(8):1075-1081. doi: 10.1007/s00431-017-2950-8.
5. Towards frailty biomarkers: Candidates from genes and pathways regulated in aging and age-related diseases.
   Cardoso AL, Fernandes A, Aguilar-Pimentel JA, de Angelis MH, Guedes JR, Brito MA, Ortolano S, Pani G, Athanasopoulou S, Gonos ES, Schosserer M, Grillari J, Peterson P, Tuna BG, Dogan S, Meyer A, van Os R, Trendelenburg AU. Ageing Res Rev. 2018 Nov;47:214-277. doi: 10.1016/j.arr.2018.07.004.
6. Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear.
   Ortolano S, Di Pasquale G, Crispino G, Anselmi F, Mammano F, Chiorini JA.Proc Natl Acad Sci U S A. 2008 Dec 2;105(48):18776-81. doi: 10.1073/pnas.0800831105.
7. Characterization of the defective interaction between a subset of natural killer cells and dendritic cells in HIV-infection. Domenico Mavilio, Gabriella Lombardo, Audrey Kinter, Manuela Fogli, Andrea La Sala, Saida Ortolano, Annahita Farschi, Dean Follmann, Roby Gregg, Colin Kovacs, Emanuela Marcenaro, Daniela Pende, Alessandro Moretta, Anthony S Fauci. J Exp Med. 2006 Oct 2;203(10):2339-50.doi: 10.1084/jem.20060894.