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 ResearchConceptsMTOR-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
2020
Cellular and animal models for facioscapulohumeral muscular dystrophy
DeSimone AM, Cohen J, Lek M, Lek A. Cellular and animal models for facioscapulohumeral muscular dystrophy. Disease Models & Mechanisms 2020, 13: dmm046904. PMID: 33174531, PMCID: PMC7648604, DOI: 10.1242/dmm.046904.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsFacioscapulohumeral muscular dystrophyMicrosatellite repeat arraysNon-primate animalsRepeat arrayFSHD pathologyCellular pathwaysChromosome 4Myogenic differentiationExpression patternsMosaic expression patternMuscular dystrophyNew disease modelsHuman diseasesCellular modelMolecular factorsHumeral musclesSkeletal muscleDisease modelsMisexpressionDUX4GenesDrug candidatesTransgenicDifferentiationPathway