Evaluation of lentiviral vectors in Morquio syndrome type A patients' fibroblasts

Puentes-Tellez, María Alejandra; Rojas-Rodríguez, Felipe; Suárez, Diego; Hidalgo, O. A.; Alméciga-Díaz, Carlos J.

doi:10.1016/j.ymgme.2018.12.305

Cited by 1 publication

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“…Contributions from Colombia in basic and applied research for MPS IVA have included production and characterization of recombinant GALNS in bacteria [110,111,112,113,114] and yeast [115,116], the design of viral vectors for gene therapy [117,118,119,120,121,122,123,124], the identification of pharmacological chaperones [125], and the generation of induced pluripotent stem cell lines [126]. Results from recombinant GALNS showed that N-glycosylations are not necessary for production of active enzyme but for cell uptake [112], and that recombinant GALNS produced in the yeast P. pastoris is taken up by cultured cells and reach the lysosomes, in which it can mediate the reduction of KS level [116].…”

Section: Mucopolysaccharidosis Type Iva (Morquio a Syndrome)mentioning

confidence: 99%

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Puentes-Tellez

Lerma-Barbosa

Garzón-Jaramillo

et al. 2020

Heliyon

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Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport, lysosomal biogenesis or modulators of lysosomal environment. Significant advances have been achieved in the diagnosis, management, and treatment of LSDs patients. In terms of approved therapies, these include enzyme replacement therapy (ERT), substrate reduction therapy, hematopoietic stem cell transplantation, and pharmacological chaperone therapy. In this review, we summarize the Colombian experience in LSDs thorough the evidence published. We identified 113 articles published between 1995 and 2019 that included Colombian researchers or physicians, and which were mainly focused in Mucopolysaccharidoses, Pompe disease, Gaucher disease, Fabry disease, and Tay-Sachs and Sandhoff diseases. Most of these articles focused on basic research, clinical cases, and mutation reports. Noteworthy, implementation of the enzyme assay in dried blood samples, led to a 5-fold increase in the identification of LSD patients, suggesting that these disorders still remain undiagnosed in the country. We consider that the information presented in this review will contribute to the knowledge of a broad spectrum of LSDs in Colombia and will also contribute to the development of public policies and the identification of research opportunities.

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