Associated Papers
Multiplex neurodegeneration proteotoxicity platform reveals DNAJB6 promotes non-toxic FUS condensate gelation and inhibits neurotoxicity.
Resnick SJ et al.
Nature Communications, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle.
Inoue M
Journal of Human Genetics, 2025
A low-complexity linker as a driver of intra- and intermolecular interactions in DNAJB chaperones.
Hobbs B et al.
Nature Communications, 2025
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 2024
Tertiary structure and conformational dynamics of the anti-amyloidogenic chaperone DNAJB6b at atomistic resolution.
Adupa V et al.
Nature Communications, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
DNAJB6 mutants display toxic gain of function through unregulated interaction with Hsp70 chaperones.
Abayev-Avraham M et al.
Nature Communications, 2023
LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.
Findlay AR et al.
Annals of Clinical and Translational Neurology, 2023
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Inoue M et al.
Acta Neuropathologica, 2023
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Wei XJ et al.
Frontiers in Neurology, 2023
Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors.
Bhadra AK et al.
Nature Communications, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B et al.
Neurology. Genetics, 2022
A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy.
Qian FY et al.
Acta Neuropathologica Communications, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
Bengoechea R et al.
The Journal of Clinical Investigation, 2020
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Palmio J et al.
Neuromuscular Disorders : Nmd, 2020
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D.
Findlay AR et al.
Neurology. Genetics, 2019
Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.
Finsterer J
Yonsei Medical Journal, 2018
The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations.
Kim K et al.
Yonsei Medical Journal, 2018
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.
Bohlega SA et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Two Korean Families with Limb-Girdle Muscular Dystrophy Type 1D Associated with DNAJB6 Mutations.
Kim K et al.
Yonsei Medical Journal, 2018
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Jonson PH et al.
European Journal of Neurology, 2018
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.
Kojima Y et al.
Internal Medicine (tokyo, Japan), 2017
A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.
Tsai PC et al.
Clinical Genetics, 2017
Versatile members of the DNAJ family show Hsp70 dependent anti-aggregation activity on RING1 mutant parkin C289G.
Kakkar V et al.
Scientific Reports, 2016
A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene.
Ding Y et al.
Jci Insight, 2016
Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.
Li S et al.
Human Molecular Genetics, 2016
Human J-protein DnaJB6b Cures a Subset of Saccharomyces cerevisiae Prions and Selectively Blocks Assembly of Structurally Related Amyloids.
Reidy M et al.
The Journal of Biological Chemistry, 2016
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
Sandell S et al.
Acta Neuropathologica Communications, 2016
DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies.
Ruggieri A et al.
Frontiers in Molecular Biosciences, 2016
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
Bengoechea R et al.
Human Molecular Genetics, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease.
Palmio J et al.
Neuromuscular Disorders : Nmd, 2015