Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

Human RNF213, which encodes the protein mysterin, is a known susceptibility gene for moyamoya disease (MMD), a cerebrovascular condition with occlusive lesions and compensatory angiogenesis. Mysterin mutations, together with exposure to environmental trigger factors, lead to an elevated stroke risk...

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Publicado en:Neurogenetics
Main Authors: Key, Jana, Maletzko, Antonia, Kohli, Aneesha, Gispert, Suzana, Torres-Odio, Sylvia, Wittig, Ilka, Heidler, Juliana, Bárcena, Clea, López-Otín, Carlos, Lei, Yuanjiu, West, A. Phillip, Münch, Christian, Auburger, Georg
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2020
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Original Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7283203/
https://ncbi.nlm.nih.gov/pubmed/32342250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-020-00609-2
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