Next Article in Journal
Nanoplastics Cause Neurobehavioral Impairments, Reproductive and Oxidative Damages, and Biomarker Responses in Zebrafish: Throwing up Alarms of Wide Spread Health Risk of Exposure
Next Article in Special Issue
Hsp90 Relieves Heat Stress-Induced Damage in Mouse Kidneys: Involvement of Antiapoptotic PKM2-AKT and Autophagic HIF-1α Signaling
Previous Article in Journal
Evolution of ASC Immunophenotypical Subsets During Expansion In Vitro
Previous Article in Special Issue
Role of Mycoplasma Chaperone DnaK in Cellular Transformation
Open AccessReview

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

1
Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland
2
Neuromuscular Research Unit, Department of Neurology, University Hospital and University of Tampere, FI-33520 Tampere, Finland
3
Department of Neurology, Vaasa Central Hospital, FI-65100 Vaasa, Finland
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(4), 1409; https://doi.org/10.3390/ijms21041409
Received: 20 January 2020 / Revised: 12 February 2020 / Accepted: 13 February 2020 / Published: 19 February 2020
(This article belongs to the Special Issue Molecular Chaperones 2.0)
Skeletal muscle and the nervous system depend on efficient protein quality control, and they express chaperones and cochaperones at high levels to maintain protein homeostasis. Mutations in many of these proteins cause neuromuscular diseases, myopathies, and hereditary motor and sensorimotor neuropathies. In this review, we cover mutations in DNAJB6, DNAJB2, αB-crystallin (CRYAB, HSPB5), HSPB1, HSPB3, HSPB8, and BAG3, and discuss the molecular mechanisms by which they cause neuromuscular disease. In addition, previously unpublished results are presented, showing downstream effects of BAG3 p.P209L on DNAJB6 turnover and localization. View Full-Text
Keywords: heat shock protein; J-domain protein; neuropathy; myopathy; pathomechanism heat shock protein; J-domain protein; neuropathy; myopathy; pathomechanism
Show Figures

Figure 1

MDPI and ACS Style

Sarparanta, J.; Jonson, P.H.; Kawan, S.; Udd, B. Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results. Int. J. Mol. Sci. 2020, 21, 1409. https://doi.org/10.3390/ijms21041409

AMA Style

Sarparanta J, Jonson PH, Kawan S, Udd B. Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results. International Journal of Molecular Sciences. 2020; 21(4):1409. https://doi.org/10.3390/ijms21041409

Chicago/Turabian Style

Sarparanta, Jaakko; Jonson, Per H.; Kawan, Sabita; Udd, Bjarne. 2020. "Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results" Int. J. Mol. Sci. 21, no. 4: 1409. https://doi.org/10.3390/ijms21041409

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Search more from Scilit
 
Search
Back to TopTop