Browsing by Author "Zanlungo, Silvana"

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    • 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 ...
    • Spermatozoa from mice deficient in Niemann-Pick disease type C2 (NPC2) protein have defective cholesterol ... 
      Busso, Dolores; Oñate Alvarado, María José; Balboa, Elisa; Castro, Juan; Lizama, Carlos; Morales, Gabriela; Vargas, Susana; Härtel, Steffen; Moreno, Ricardo D.; Zanlungo, Silvana (CSIRO, 2014)
      The cholesterol content of the sperm membrane is regulated during both maturation in the epididymis and capacitation in the female tract, two processes required for the spermatozoa to acquire their fertilising ability. ...