Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Carlos J. Alméciga-Díaz"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Lysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function. Despite the monogenic nature, LSDs patients exhibit variable and heterogeneou
Externí odkaz:
https://doaj.org/article/3a471f799bac41ca80b6f37bda8b77fa
Autor:
Luisa N. Pimentel-Vera, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Aura María Ramírez, Carolina Cardona, Luis H. Reyes, Shunji Tomatsu, Thapakorn Jaroentomeechai, Matthew P. DeLisa, Oscar F. Sánchez, Carlos J. Alméciga-Díaz
Publikováno v:
Heliyon, Vol 10, Iss 12, Pp e32555- (2024)
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-
Externí odkaz:
https://doaj.org/article/c416a701f4074f4abb9006fd40dbe25c
Autor:
Andres Ceballos-Garzon, Elvira Roman, Jesús Pla, Fabrice Pagniez, Daniela Amado, Carlos J. Alméciga-Díaz, Patrice Le Pape, Claudia M. Parra-Giraldo
Publikováno v:
PLoS ONE, Vol 17, Iss 3 (2022)
Invasive fungal infections, which kill more than 1.6 million patients each year worldwide, are difficult to treat due to the limited number of antifungal drugs (azoles, echinocandins, and polyenes) and the emergence of antifungal resistance. The tran
Externí odkaz:
https://doaj.org/article/dd48385ea79241f0aeb9e9f01f600e43
Autor:
María Alejandra Puentes-Tellez, Paula Andrea Lerma-Barbosa, Rafael Guillermo Garzón-Jaramillo, Diego A. Suarez, Angela J. Espejo-Mojica, Johana M. Guevara, Olga Yaneth Echeverri, Daniela Solano-Galarza, Alfredo Uribe-Ardila, Carlos J. Alméciga-Díaz
Publikováno v:
Heliyon, Vol 6, Iss 3, Pp e03635- (2020)
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, trans
Externí odkaz:
https://doaj.org/article/dc87a9a89f9d4088ab59aedf9db5ece1
Autor:
Mylinh Vu, Rong Li, Amanda Baskfield, Billy Lu, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong Zou, Angela J. Espejo-Mojica, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz, Luis A. Barrera, Xuntian Jiang, Daniel S. Ory, Juan J. Marugan, Wei Zheng
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-15 (2018)
Abstract Background Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside,
Externí odkaz:
https://doaj.org/article/bca708979a86458480f946c7d0be405e
Autor:
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals,
Externí odkaz:
https://doaj.org/article/49daf7acd2fa45508c4d511cfb9b74ad
Autor:
Luis H. Reyes, Carolina Cardona, Luisa Pimentel, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)
Abstract Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA. However, most of the rhGALNS p
Externí odkaz:
https://doaj.org/article/770ebd13478944dc97b4386ba3507aff
Autor:
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz
Publikováno v:
Heliyon, Vol 5, Iss 5, Pp e01667- (2019)
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulatio
Externí odkaz:
https://doaj.org/article/f53c49b2cb0a4b2aa34b186210b7a074
Autor:
Rong Li, Amanda Baskfield, Jeanette Beers, Jizhong Zou, Chengyu Liu, Carlos J. Alméciga-Díaz, Wei Zheng
Publikováno v:
Stem Cell Research, Vol 36, Iss , Pp - (2019)
Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates
Externí odkaz:
https://doaj.org/article/4606c10a90ce4b9aac72200a738c14b4
Autor:
Juan Camilo Losada Díaz, Jacobo Cepeda del Castillo, Edwin Alexander Rodriguez-López, Carlos J. Alméciga-Díaz
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 1, p 232 (2019)
The mucopolysaccharidoses (MPS) are a group of 11 lysosomal storage diseases (LSDs) produced by mutations in the enzymes involved in the lysosomal catabolism of glycosaminoglycans. Most of the mutations affecting these enzymes may lead to changes in
Externí odkaz:
https://doaj.org/article/eda6ad79323745f799c240cc19a7408a