Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108888
Abstract: Background Although retinitis pigmentosa (RP) is the most common type of hereditary retinal dystrophy, approximately 25%–45% of cases remain without a molecular diagnosis. von Willebrand factor A domain containing 8 (VWA8) encodes a mitochondrial matrix-targeted… read more here.
Keywords: autosomal dominant; mitophagy activation; retinitis pigmentosa;
Functional role and molecular mechanisms underlying prohibitin 2 in platelet mitophagy and activation
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2021.12023
Abstract: Platelet mitophagy is a major pathway involved in the clearance of injured mitochondria during hemostasis and thrombosis. Prohibitin 2 (PHB2) has recently emerged as an inner mitochondrial membrane receptor involved in mitophagy. However, the mechanisms… read more here.
Keywords: platelet mitophagy; mitophagy activation; phb2; mitophagy ... See more keywords