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Article

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

Neurogenetics - 1 Jul 2020

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

Abstract excerpt

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 since childhood. Mysterin is induced during cell stress, to function as cytosolic AAA+ ATPase and ubiquitylation...

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Identifiers

PMID: 32342250
DOI: 10.1007/s10048-020-00609-2
PMCID: PMC7283203

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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