Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Boris Rebolledo‐Jaramillo"'
Autor:
Anyelo Durán, David A. Priestman, Macarena Las Heras, Boris Rebolledo-Jaramillo, Valeria Olguín, Juan F. Calderón, Silvana Zanlungo, Jaime Gutiérrez, Frances M. Platt, Andrés D. Klein
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4915 (2023)
Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders (LSDs). To this end, we use
Externí odkaz:
https://doaj.org/article/b7f4fc8e169b4dfb91df14ddc75f90b5
Autor:
Anyelo Durán, Boris Rebolledo-Jaramillo, Valeria Olguin, Marcelo Rojas-Herrera, Macarena Las Heras, Juan F. Calderón, Silvana Zanlungo, David A. Priestman, Frances M. Platt, Andrés D. Klein
Publikováno v:
Biochemistry and Biophysics Reports, Vol 28, Iss , Pp 101105- (2021)
The acid β-glucocerebrosidase (GCase) enzyme cleaves glucosylceramide into glucose and ceramide. Loss of function variants in the gene encoding for GCase can lead to Gaucher disease and Parkinson's disease. Therapeutic strategies aimed at increasing
Externí odkaz:
https://doaj.org/article/dff4503f41464b0aa93acc285066214e
Autor:
Elisa Balboa, Tamara Marín, Juan Esteban Oyarzún, Pablo S. Contreras, Robert Hardt, Thea van den Bosch, Alejandra R. Alvarez, Boris Rebolledo-Jaramillo, Andres D. Klein, Dominic Winter, Silvana Zanlungo
Publikováno v:
Cells, Vol 10, Iss 8, p 2159 (2021)
Niemann-Pick type C disease (NPCD) is a lysosomal storage disorder caused by mutations in the NPC1 gene. The most affected tissues are the central nervous system and liver, and while significant efforts have been made to understand its neurological c
Externí odkaz:
https://doaj.org/article/bad4e229bef34b36b08551674950517c
Publikováno v:
Frontiers in Neuroscience, Vol 12 (2018)
Teneurins are large transmembrane proteins originally identified in Drosophila. Their essential role in development of the central nervous system is conserved throughout species, and evidence supports their involvement in organogenesis of additional
Externí odkaz:
https://doaj.org/article/80ca4c8e99704ed68eb9890876072f19
Autor:
Björn A Grüning, Eric Rasche, Boris Rebolledo-Jaramillo, Carl Eberhard, Torsten Houwaart, John Chilton, Nate Coraor, Rolf Backofen, James Taylor, Anton Nekrutenko
Publikováno v:
PLoS Computational Biology, Vol 13, Iss 5, p e1005425 (2017)
What does it take to convert a heap of sequencing data into a publishable result? First, common tools are employed to reduce primary data (sequencing reads) to a form suitable for further analyses (i.e., the list of variable sites). The subsequent ex
Externí odkaz:
https://doaj.org/article/b9ffb2544292468abd071231c8278d0e
Autor:
Benjamin Dickins, Boris Rebolledo-Jaramillo, Marcia Shu-Wei Su, Ian M. Paul, Daniel Blankenberg, Nicholas Stoler, Kateryna D. Makova, Anton Nekrutenko
Publikováno v:
BioTechniques, Vol 56, Iss 3, Pp 134-141 (2014)
Polymorphism discovery is a routine application of next-generation sequencing technology where multiple samples are sent to a service provider for library preparation, subsequent sequencing, and bioinformatic analyses. The decreasing cost and advance
Externí odkaz:
https://doaj.org/article/6ff859dafd284ae0abcf665578016195
Publikováno v:
International Journal of Genomics, Vol 2016 (2016)
Epigenetic regulation plays important biological roles in plants, including timing of flowering and endosperm development. Little is known about the mechanisms controlling heterochrony (the change in the timing or rate of developmental events during
Externí odkaz:
https://doaj.org/article/9d199efbf5f3442fadafe9aee7fe6256
Autor:
Rena Zheng, Boris Rebolledo-Jaramillo, Yiwei Zong, Liqing Wang, Pierre Russo, Wayne Hancock, Ben Z Stanger, Ross C Hardison, Gerd A Blobel
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e83723 (2013)
GATA transcription factors and their Friend of Gata (FOG) cofactors control the development of diverse tissues. GATA4 and GATA6 are essential for the expansion of the embryonic liver bud, but their expression patterns and functions in the adult liver
Externí odkaz:
https://doaj.org/article/cc1b818cb1d9408b9cafd0956bb7a359
Autor:
Ignacia Fuentes, María Joao Yubero, Pilar Morandé, Carmen Varela, Karen Oróstica, Francisco Acevedo, Boris Rebolledo‐Jaramillo, Esteban Arancibia, Lorena Porte, Francis Palisson
Publikováno v:
International Wound Journal. 20:774-783
Autor:
Anyelo Durán, David A. Priestman, Macarena Las Las Heras, Boris Rebolledo-Jaramillo, Valeria Olguín, Juan F. Calderón, Silvana Zanlungo, Jaime Gutiérrez, Frances M. Platt, Andrés D. Klein
Publikováno v:
International Journal of Molecular Sciences
Volume 24
Issue 5
Pages: 4915
Volume 24
Issue 5
Pages: 4915
Identification of genetic modulators of lysosomal enzyme activities and glycosphingolipids (GSLs) may facilitate the development of therapeutics for diseases in which they participate, including Lysosomal Storage Disorders (LSDs). To this end, we use
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb0a4cc099311c510a882cb5f007dfcd
https://doi.org/10.21203/rs.3.rs-2362074/v1
https://doi.org/10.21203/rs.3.rs-2362074/v1