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Parkine

PARK2
Structure de la protéine PARK2. Basé sur l'identifiant PDB 1iyf.
Structures disponibles
PDBRecherche d'orthologue: PDBe RCSB
Identifiants
AliasesPRKN
IDs externesOMIM: 602544 MGI: 1355296 HomoloGene: 3355 GeneCards: PRKN
Wikidata
Voir/Editer HumainVoir/Editer Souris

La parkine est une enzyme de type ubiquitine ligase dont le gène, PARK2, est situé sur le chromosome 6 humain.

Comme ubiquitine ligase, elle facilite la dégradation des protéines par le protéasome. Elle contribue à maintenir l'intégrité de la membrane mitochondriale[5] en association avec le PINK1[6], ce dernier activant la parkine par l'intermédiaire d'une phosphorylation de l'ubiquitine[7].

Elle empêche également l'internalisation du récepteur de l'EGF et active la voie du phosphoinositide 3-kinase/Atk[8].

En médecine

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La mutation du gène entraîne une syndrome parkinsonien avec une transmission autosomale récessive. Ce gène constitue ainsi une piste de recherche pour la thérapie génique de la maladie de Parkinson[9].

Notes et références

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  1. a b et c GRCh38: Ensembl release 89: ENSG00000185345 - Ensembl, May 2017
  2. a b et c GRCm38: Ensembl release 89: ENSMUSG00000023826 - Ensembl, May 2017
  3. « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine
  4. « Publications PubMed pour la Souris », sur National Center for Biotechnology Information, U.S. National Library of Medicine
  5. Corti O, Brice A, Mitochondrial quality control turns out to be the principal suspect in parkin and PINK1-related autosomal recessive Parkinson’s disease, Curr Opin Neurobiol, 2013;23:100–108
  6. Pilsl A, Winklhofer KF, Parkin, PINK1 and mitochondrial integrity: emerging concepts of mitochondrial dysfunction in Parkinson’s disease, Acta Neuropathol, 2012;123:173–188
  7. Koyano F1, Okatsu K1, Kosako H et al. Ubiquitin is phosphorylated by PINK1 to activate parkin, Nature, 2014;510:162–166.
  8. Fallon L1, Bélanger CM, Corera AT et al. A regulated interaction with the UIM protein Eps15 implicates parkin in EGF receptor trafficking and PI(3)K-Akt signalling, Nat Cell Biol, 2006;8:834–842
  9. Yamada M, Mizuno Y, Mochizuki H, Parkin gene therapy for α-synucleinopathy: a rat model of Parkinson’s disease, Hum Gene Ther, 2005;16:262–270
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Parkine
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