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Genotype‒phenotype correlation in recessive DNAJB4 myopathy

Abstract Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive loss-of-function variants in DNAJB4 cause myopathy...

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Автори: Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A. Genetti, Abdulrahman A. Aldeeri, Betül Turan, Rafael Adrian Pacheco-Orozco, Almundher Al-Maawali, Nadia Al Hashmi, Ayşe Gül Zamani, Emine Göktaş, Sevgi Pekcan, Hanife Tuğçe Çağlar, Heather True, Alan H. Beggs, Conrad C. Weihl
Формат: Artigo
Мова:Inglês
Опубліковано: BMC 2024-10-01
Серія:Acta Neuropathologica Communications
Предмети:
DNAJB4
Protein aggregate myopathy
Chaperonopathy
Respiratory failure
Rigid spine syndrome
Heat shock proteins
Онлайн доступ:https://doi.org/10.1186/s40478-024-01878-w
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