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Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrationsGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activityLeigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyThe myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneLoss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseSDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathyExome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationMutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyMeta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitisCOQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Integrative analysis of the mitochondrial proteome in yeastSengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsMitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communitiesMutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystoniaImpairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegenerationMTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.Assessing systems properties of yeast mitochondria through an interaction map of the organelleThe Nfs1 interacting protein Isd11 has an essential role in Fe/S cluster biogenesis in mitochondria.Mitochondria: Much ado about nothing? How dangerous is reactive oxygen species production?TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesMitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain FunctionSudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathyAlterations of red cell membrane properties in neuroacanthocytosisA meta-analysis of gene expression signatures of blood pressure and hypertensionDeficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Systematic identification of trans eQTLs as putative drivers of known disease associationsGenome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early ChildhoodMutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathyBiallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyMutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.Systematic screen for human disease genes in yeastC19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Analyzing illumina gene expression microarray data from different tissues: methodological aspects of data analysis in the metaxpress consortiumMitochondrial membrane protein-associated neurodegeneration (MPAN).
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