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 …

Eukaryotic cells react to various stress conditions with the rapid formation of membrane-less
organelles called stress granules (SGs). SGs form by multivalent interactions between RNAs …

Charcot-Marie-Tooth (CMT) disease is a progressive, peripheral neuropathy and the most
commonly inherited neurological disorder. Clinical manifestations of CMT mutations are …

Background To explore the role of long noncoding RNAs (lncRNAs) cytoskeleton regulator
RNA (CYTOR) in renal cell carcinoma (RCC). Methods The levels of CYTOR in RCC tissues …

Next-generation sequencing (NGS) technology has led to great advances in understanding
the causes of Mendelian and complex neurological diseases. Owing to the complexity of …

Background: Myofibrillar myopathy is a group of hereditary neuromuscular disorders
characterized by dissolution of myofibrils and abnormal intracellular accumulation of Z disc …

Abstract Charcot–Marie–Tooth disease type 4C (CMT4C) is an autosomal recessive
neuropathy caused by SH3TC2 mutations, characterized by spine deformities and cranial …

Abstract Background and Aims Biallelic variants in the sorbitol dehydrogenase (SORD)
gene have been identified as the genetic cause of autosomal recessive (AR) peripheral …

Abstract Bcl2-associated athanogene 3 (BAG3) gene mutations cause dilated
cardiomyopathy and myofibrillar myopathy. Recently, a novel c. 625C> T (p. Pro209Ser) …

Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle
disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 …