Angelman sindromearen tratamendurako itu terapeutikoen bilaUSP9X deubikuitinasa jomugan

  1. Elu, Nagore 1
  2. Ramirez, Juanma
  3. Lectez, Benoit 1
  4. Osinalde, Nerea
  5. Mayor, Ugo
  1. 1 Universidad del País Vasco/Euskal Herriko Unibertsitatea
    info

    Universidad del País Vasco/Euskal Herriko Unibertsitatea

    Lejona, España

    ROR https://ror.org/000xsnr85

Revista:
Osagaiz: osasun-zientzien aldizkaria

ISSN: 2530-9412

Año de publicación: 2019

Volumen: 3

Número: 1

Páginas: 71-78

Tipo: Artículo

DOI: 10.26876/OSAGAIZ.1.2019.262 DIALNET GOOGLE SCHOLAR lock_openAcceso abierto editor

Otras publicaciones en: Osagaiz: osasun-zientzien aldizkaria

Resumen

Lack of UBE3A protein causes Angelman syndrome. This protein is in charge of ubiquitinating other proteins in the cell. Therefore, when there is lack of UBE3A, its substrates —such as DDI1— will be less ubiquitinated, negatively affecting cell equilibrium. Moreover, proteins named deubiquitinases remove ubiquitin from the substrates, making the scenario even worse. In this work we have identified one of the proteins —USP9X— that deubiquitinates DDI1 and presented it as a therapeutical target, since its inhibition enhances DDI1 ubiquitination and improves the climbing ability of Angelman syndrome model flies.