Browsing by Author "Dehesa Etxebeste, Martxel Pedro"

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      Generation of new LGMDR1 models with CRISPR/Cas9 and studies to expand insight into the disease. 

      Dehesa Etxebeste, Martxel Pedro (2022-11-25)
      La LGMDR1 es la forma más común de las distrofias musculares de cinturas, y está causada por mutaciones en el gen CAPN3. Este gen codifica la proteína calpaína 3, una proteasa no lisosomal que se expresa principalmente en ...
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      Mechanisms of E2F2-mediated transcriptional repression 

      Dehesa Etxebeste, Martxel Pedro (2014-02-11)
      In this work we wanted to study the mechanism of E2F2-mediated repression. Our hypothesis is that E2F2 activates the expression of one or more E2F members of the “repressor” subset of the family through the E2F motifs ...
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      Patient-Specific iPSC-Derived Cellular Models of LGMDR1 

      Mateos Aierdi, Alba Judith; Dehesa Etxebeste, Martxel Pedro; Goicoechea Bianchi, María; Aiastui, Ana; Richaud-Patin, Yvonne; Jiménez Delgado‬, Senda; Raya, Ángel; Naldaiz Gastesi, Neia; López de Munain Arregui, Adolfo José (Elsevier, 2021-04-08)
      Limb-girdle muscular dystrophy recessive 1 (LGMDR1) represents one of the most common types of LGMD in the population, where patients develop a progressive muscle degeneration. The disease is caused by mutations in calpain ...