2020
DOI: 10.1016/j.heliyon.2020.e03635
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A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Abstract: 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 reduct… Show more

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Cited by 11 publications
(14 citation statements)
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References 124 publications
(167 reference statements)
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“…These diseases are characterized by the progressive accumulation of non-degraded substrates into the lysosomes, which leads to impaired lysosomal functions, altered metabolic processes, tissue damage, and death [ 1 , 2 ]. Unfortunately, there is considerable clinical variability within each disease phenotype, and also consistent overlapping symptomatology among LSDs, which makes the definition of a precise diagnosis solely based on clinical manifestations a very demanding task for clinicians [ 3 ].…”
Section: Introductionmentioning
confidence: 99%
“…These diseases are characterized by the progressive accumulation of non-degraded substrates into the lysosomes, which leads to impaired lysosomal functions, altered metabolic processes, tissue damage, and death [ 1 , 2 ]. Unfortunately, there is considerable clinical variability within each disease phenotype, and also consistent overlapping symptomatology among LSDs, which makes the definition of a precise diagnosis solely based on clinical manifestations a very demanding task for clinicians [ 3 ].…”
Section: Introductionmentioning
confidence: 99%
“…Although newer therapeutic approaches like hematopoietic stem cell transplantation (HSCT) are available for some types of MPS, they are not frequently used in Latin America [ [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] ]. Also, the benefit-to-risk profile of HSCT is less evident in MPS-IVA/VI patients compared with that in patients with other types of MPS [ 9 , 10 ].…”
Section: Introductionmentioning
confidence: 99%
“…Among the different yeasts used for the development of novel ERT; Pichia pastoris has shown a great potential due to its well know genetics and metabolism and the about 70 recombinant proteins approved or in process to being approved for several conditions ([Karbalaei, Rezaee, & Farsiani, 2020] and http://www.pichia.com). In this sense, we have worked for several years in the production and characterization of recombinant lysosomal enzymes by using the yeast P. pastoris (Echeverri et al, 2018; Espejo‐Mojica et al, 2015; Puentes‐Tellez et al, 2020), which include iduronate‐2‐sulfatase (IDS) (Córdoba‐Ruiz et al, 2009; Landázuri et al, 2009; Pimentel et al, 2018), N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS) (Rodriguez‐Lopez et al, 2016; Rodriguez‐Lopez et al, 2019) and β‐hexosaminidases (Espejo‐Mojica et al, 2016; Vu et al, 2018). Noteworthy, these enzymes have shown to be biologically active and have the ability to be internalized and delivered to lysosomes, as well as to reduce the accumulated substrates in different cellular models.…”
Section: Introductionmentioning
confidence: 99%