Maintenance of protein homeostasis is vitally important in post-mitotic cells, particularly
neurons. Neurodegenerative diseases such as polyglutamine expansion disorders—like …

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 …

Plasma metabolite concentrations reflect the activity of tissue metabolic pathways and their
quantitative determination may be informative about pathogenic conditions. We searched for …

Molecular chaperones are essential cellular components that aid in protein folding and
preventing the abnormal aggregation of disease-associated proteins. Mutations in one such …

BAG3 is a multi-domain hub that connects two classes of chaperones, small heat shock
proteins (sHSPs) via two isoleucine-proline-valine (IPV) motifs and Hsp70 via a BAG …

Muscular dystrophies (MDs) are a heterogeneous group of myopathies characterized by
progressive muscle weakness leading to death from heart or respiratory failure. MDs are …

Eight patients from five families with undiagnosed dominant distal myopathy underwent
clinical, neurophysiological and muscle biopsy examinations. Molecular genetic studies …

Mutations in the DNAJB6 gene have been associated with the autosomal dominant limb
girdle muscular dystrophy type 1D (LGMD1D), a disorder characterized by abnormal protein …

Background and purpose The aim was to determine the genetic background of unknown
muscular dystrophy in five French families. Methods Twelve patients with limb girdle …

Limb girdle muscle dystrophies (LGMDs) are a group of inherited neuromuscular disorders
comprising more than 20 genes. There have been increasing efforts to characterize this …