2022
Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy
Gogia N, Ni L, Olmos V, Haidery F, Luttik K, Lim J. Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy. Frontiers In Molecular Neuroscience 2022, 15: 931301. PMID: 35726299, PMCID: PMC9206542, DOI: 10.3389/fnmol.2022.931301.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsBulbar muscular atrophyAR proteinMuscular atrophyBulbar motor neuronsPolymorphic CAG trinucleotide repeatProgressive neuromuscular diseaseMain genetic causeMutant ARMotor neuronsTherapeutic approachesAR functionNeuromuscular diseaseProtective roleDisease pathophysiologyGenetic causeSkeletal muscleDiseaseCAG trinucleotide repeatAtrophySBMACell deathPolyQ tract expansionTractPolyQ disordersPolyglutamine expansion
2015
Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy
Todd TW, Kokubu H, Miranda HC, Cortes CJ, La Spada AR, Lim J. Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy. ELife 2015, 4: e08493. PMID: 26308581, PMCID: PMC4577982, DOI: 10.7554/elife.08493.Peer-Reviewed Original ResearchConceptsNemo-like kinaseMuscular atrophyExact pathogenic mechanismProgressive neuromuscular diseaseAndrogen receptor proteinSBMA phenotypePathogenic mechanismsDisease pathogenesisNeuromuscular diseaseGene transcriptionTherapy developmentAtrophySBMAAR fragmentReceptor proteinPolyglutamine expansionMolecular mechanismsNovel regulatorNovel avenuesToxicityPathogenesisDiseaseMice