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    Por favor, use este identificador para citar o enlazar este ítem:http://uvadoc.uva.es/handle/10324/19068

    Título
    Identificación de mutaciones deletéreas en MTIF3 asociadas a enfermedad de Parkinson a propósito de un caso clínico
    Autor
    Santamaría Vicario, Inés
    Torrillas López, Raquel
    Director o Tutor
    Tellería Orriols, Juan JoséAutoridad UVA
    Editor
    Universidad de Valladolid. Facultad de MedicinaAutoridad UVA
    Año del Documento
    2016
    Titulación
    Grado en Medicina
    Abstract
    Several genes involved in mitochondrial function have been related to Parkinson’s Disease (PD). Mutations in the mitochondrial serine-threonine kinase PINK1 have been described as causing early-onset autosomal recessive variant of PD. Here we have tested a candidate interactor protein of PINK1, the mitochondrial translation initiation factor 3 (MTIF3) for its potential involvement in PD pathogenesis. MTIF3 encodes a protein which triggers the initiation of complex formation on mitochondrial ribosomes. Dysfunction of MTIF3 leads to vulnerability to oxidative stress, related with neuronal degeneration in PD. We describe a patient affected of PD who carries both, a frameshift and a nonsense mutation in heterozygosis of the MTIF3 gene. We suggest that MTIF3 should be included in the panel of genes screened in PD patients with atypical phenotypes; especially in those with suspected autosomical recessive pattern.
    Materias (normalizadas)
    Parkinson - Enfermedad de - Caso clínico
    Mutación deletérea (Biología)
    Idioma
    spa
    URI
    http://uvadoc.uva.es/handle/10324/19068
    Derechos
    openAccess
    Collections
    • Trabajos Fin de Grado UVa [30977]
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    Attribution-NonCommercial-NoDerivatives 4.0 InternationalExcept where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivatives 4.0 International

    Universidad de Valladolid

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