Browsing by Author "Moraga, Carol"

Now showing items 1-3 of 3

    • Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing ... 
      Acuna, Mariana; Martinez, Pablo; Moraga, Carol; He, Xingxuan; Moraga Vergara, Mauricio; Hunter, Bessie; Nuernberg, Peter; Gutierrez, Rodrigo; González Canales, Mauricio; Schuchman, Edward; Luis Santos, Jose; Francisco Miquel, Juan; Mabe, Paulina; Zanlungo, Silvana (NATURE PUBLISHING GROUP, 2016)
      Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase ...
    • Proteomic analysis of a segregant population reveals candidate proteins linked to mealiness in peach 
      Miyasaka Almeida, Andréa; Urra, Claudio; Moraga, Carol; Jego, Marcela; Flores, Alejandra; Meisel, Lee Ann; González Canales, Mauricio; Infante Espiñeira, Rodrigo; Defilippi, Bruno G.; Campos Vargas, Reinaldo; Orellana, Ariel (Elsevier, 2016)
      Peaches are stored at low temperatures to delay ripening and increase postharvest life. However some varieties are susceptible to chilling injury, which leads to fruit mealiness, browning and flesh bleeding. In order to ...
    • Whole genome comparison between table and wine grapes reveals a comprehensive catalog of structural variants 
      Di Genova, Alex; Miyasaka Almeida, Andrea; Muñoz Espinoza, Claudia; Vizoso, Paula; Travisany, Dante; Moraga, Carol; Pinto Contreras, Manuel; Hinrichsen, Patricio; Orellana López, Ariel; Maass Sepúlveda, Alejandro (2014)
      Background: Grapevine (Vitis vinifera L.) is the most important Mediterranean fruit crop, used to produce both wine and spirits as well as table grape and raisins. Wine and table grape cultivars represent two divergent germplasm ...