Mitochondrial E3 ubiquitin ligase 1 (MUL1) as a novel therapeutic target for diseases associated with mitochondrial dysfunction
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DOI: 10.1002/iub.2657
Abstract: Mitochondrial E3 ubiquitin ligase 1 (MUL1) is a mitochondrial outer membrane‐anchored protein‐containing transmembrane domain in its N‐ and C‐terminal regions, where both are exposed to the cytosol. Interestingly the C‐terminal region has a RING finger… read more here.
Keywords: associated mitochondrial; ubiquitin ligase; mitochondrial ubiquitin; mul1 ... See more keywords
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
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DOI: 10.1212/nxg.0000000000000258
Abstract: Catastrophic epileptic encephalopathy of unclear etiology following a mild metabolic insult generally has a poor outcome. Here, we present 2 such unrelated individuals in whom whole-exome sequencing identified the same de novo recurrent mutation (c.1207C>T… read more here.
Keywords: dnm1l mutation; mutation; novo dnm1l; mutation associated ... See more keywords
Novel TOP3A Variant Associated With Mitochondrial Disease
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DOI: 10.1212/nxg.0000000000200007
Abstract: Objectives Topoisomerase III alpha plays a key role in the dissolution of double Holliday junctions and is required for mitochondrial DNA (mtDNA) replication and maintenance. Sequence variants in the TOP3A gene have been associated with… read more here.
Keywords: top3a variant; associated mitochondrial; novel top3a; variant associated ... See more keywords
Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models
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DOI: 10.3389/fcvm.2022.843853
Abstract: Complement C1q binding protein (C1QBP, p32) is primarily localized in mitochondrial matrix and associated with mitochondrial oxidative phosphorylative function. C1QBP deficiency presents as a mitochondrial disorder involving multiple organ systems. Recently, disease associated C1QBP mutations… read more here.
Keywords: c1q binding; protein c1qbp; binding protein; complement c1q ... See more keywords