2023
Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
Cohen J, Huang S, Koczwara K, Woods K, Ho V, Woodman K, Arbiser J, Daman K, Lek M, Emerson C, DeSimone A. Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism. Cell Death & Disease 2023, 14: 749. PMID: 37973788, PMCID: PMC10654915, DOI: 10.1038/s41419-023-06257-2.Peer-Reviewed Original ResearchMeSH KeywordsFlavonesHomeodomain ProteinsHumansMuscle, SkeletalMuscular Dystrophy, FacioscapulohumeralTOR Serine-Threonine KinasesConceptsMTOR-independent mechanismsFacioscapulohumeral muscular dystrophyDUX4 transcriptsDUX4 activityMultiple signal transduction pathwaysSignal transduction pathwaysTherapeutic developmentDUX4 proteinDUX4 expressionTransduction pathwaysPolyadenylation sitesChromosome 4DUX4 geneMechanisms of toxicityAutophagy pathwayExpression of ULK1DUX4Cellular autophagyCell deathRelevant pathwaysMuscular dystrophyMolecular methodsPathwaySkeletal muscleTranscripts
2016
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals Of Neurology 2016, 80: 101-111. PMID: 27159402, DOI: 10.1002/ana.24687.Peer-Reviewed Original ResearchConceptsMuscle biopsyImmunohistochemical analysisGenetic diagnosisCongenital muscular dystrophy patientsFirst-line toolCandidate gene sequencingCongenital myasthenic syndromeCongenital muscular dystrophyMuscular dystrophy patientsAnn NeurolMyasthenic syndromeUndiagnosed patientsCMD patientsCongenital myopathyLarge cohortProbable diagnosisPatientsGene sequencingClinical phenotypeDystrophy patientsLaminin α2BiopsyDiagnosisChromosomal microarrayCohort