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

被引：49
作者：
Sarparanta, Jaakko [1 ]
Jonson, Per Harald [1 ]
Kawan, Sabita [1 ]
Udd, Bjarne [1 ,2 ,3 ,4 ]
机构：
[1] Univ Helsinki, Folkhalsan Res Ctr Helsinki Finland & Medicum, FI-00290 Helsinki, Finland
[2] Univ Hosp, Dept Neurol, Neuromuscular Res Unit, FI-33520 Tampere, Finland
[3] Univ Tampere, FI-33520 Tampere, Finland
[4] Vaasa Cent Hosp, Dept Neurol, FI-65100 Vaasa, Finland
来源：
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2020年 / 21卷 / 04期
基金：
芬兰科学院;
关键词：
heat shock protein; J-domain protein; neuropathy; myopathy; pathomechanism; ALPHA-B-CRYSTALLIN; HEAT-SHOCK-PROTEIN; MARIE-TOOTH-DISEASE; GIRDLE MUSCULAR-DYSTROPHY; HEREDITARY MOTOR NEUROPATHY; TARGETING MISFOLDED PROTEINS; AMYLOID FIBRIL FORMATION; TRANSGENIC MOUSE MODEL; SMALL STRESS-PROTEINS; PRION-LIKE DOMAINS;
D O I：
10.3390/ijms21041409
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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, alpha B-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 In addition, previously unpublished results are presented, showing downstream effects of BAG3 p.P209L on DNAJB6 turnover and localization.
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页数：78
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