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

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 neuropa...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	International journal of molecular sciences 2020-02, Vol.21 (4), p.1409, Article 1409
Hauptverfasser:	Sarparanta, Jaakko, Jonson, Per Harald, Kawan, Sabita, Udd, Bjarne
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism alpha-Crystallin B Chain - genetics alpha-Crystallin B Chain - metabolism Animals Apoptosis Regulatory Proteins - genetics Apoptosis Regulatory Proteins - metabolism Biochemistry & Molecular Biology Chemistry Chemistry, Multidisciplinary Gene Expression Regulation - genetics heat shock protein Heat-Shock Proteins - chemistry Heat-Shock Proteins - genetics Heat-Shock Proteins - metabolism HSP40 Heat-Shock Proteins - chemistry HSP40 Heat-Shock Proteins - genetics HSP40 Heat-Shock Proteins - metabolism Humans j-domain protein Life Sciences & Biomedicine Molecular Chaperones - chemistry Molecular Chaperones - genetics Molecular Chaperones - metabolism Muscular Diseases - genetics Muscular Diseases - metabolism Muscular Diseases - pathology myopathy Nerve Tissue Proteins - chemistry Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Neuromuscular Diseases - genetics Neuromuscular Diseases - metabolism Neuromuscular Diseases - pathology neuropathy pathomechanism Physical Sciences Review Science & Technology Signal Transduction - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	1422-0067 1422-0067
DOI:	10.3390/ijms21041409