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http://purl.uniprot.org/citations/21750112http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21750112http://www.w3.org/2000/01/rdf-schema#comment"Choline kinase is the first step enzyme for phosphatidylcholine (PC) de novo biosynthesis. Loss of choline kinase activity in muscle causes rostrocaudal muscular dystrophy (rmd) in mouse and congenital muscular dystrophy in human, characterized by distinct mitochondrial morphological abnormalities. We performed biochemical and pathological analyses on skeletal muscle mitochondria from rmd mice. No mitochondria were found in the center of muscle fibers, while those located at the periphery of the fibers were significantly enlarged. Muscle mitochondria in rmd mice exhibited significantly decreased PC levels, impaired respiratory chain enzyme activities, decreased mitochondrial ATP synthesis, decreased coenzyme Q and increased superoxide production. Electron microscopy showed the selective autophagic elimination of mitochondria in rmd muscle. Molecular markers of mitophagy, including Parkin, PINK1, LC3, polyubiquitin and p62, were localized to mitochondria of rmd muscle. Quantitative analysis shows that the number of mitochondria in muscle fibers and mitochondrial DNA copy number were decreased. We demonstrated that the genetic defect in choline kinase in muscle results in mitochondrial dysfunction and subsequent mitochondrial loss through enhanced activation of mitophagy. These findings provide a first evidence for a pathomechanistic link between de novo PC biosynthesis and mitochondrial abnormality."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.org/dc/terms/identifier"doi:10.1093/hmg/ddr305"xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Goto Y."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Nakagawa Y."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Noguchi S."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Cox G.A."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Hayashi Y.K."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Mitsuhashi S."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Nishino I."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Nonaka I."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Manfredi G."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Karahashi M."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Koumura T."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Sher R.B."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/author"Hatakeyama H."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/name"Hum Mol Genet"xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/pages"3841-3851"xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/title"Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy."xsd:string
http://purl.uniprot.org/citations/21750112http://purl.uniprot.org/core/volume"20"xsd:string
http://purl.uniprot.org/citations/21750112http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/21750112
http://purl.uniprot.org/citations/21750112http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/21750112
http://purl.uniprot.org/uniprot/#_F6RRT7-mappedCitation-21750112http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21750112
http://purl.uniprot.org/uniprot/#_F6SKI6-mappedCitation-21750112http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/21750112