Skeletal muscle is a crucial tissue for movement, gestural assistance, metabolic
homeostasis, and thermogenesis. It makes up approximately 40% of the total body weight …

This review was written in memory of our late friend, Dr. Hiroyuki Sorimachi, who, following
the steps of his mentor Koichi Suzuki, a pioneer in calpain research, has made tremendous …

Background Danon disease is a rare, X-linked, monogenic cardiomyopathy caused by
mutations in the lysosomal-associated membrane 2 gene (LAMP2), which encodes the …

Many genetic diseases that are responsible for muscular disorders have been described to
date. Gene replacement therapy is a state-of-the-art strategy used to treat such diseases. In …

Cardiomyocytes are the motor units that drive the contraction and relaxation of the heart.
Traditionally, testing of drugs for cardiotoxic effects has relied on primary cardiomyocytes …

Titin is a large filamentous protein that forms a sarcomeric myofilament with a molecular
spring region that develops force in stretched sarcomeres. The molecular spring has a …

Although they are considered rare disorders, muscular dystrophies have a strong impact on
people's health. Increased disease severity with age, frequently accompanied by the loss of …

Limb-girdle muscular dystrophy type R25 (LGMDR25) is caused by recessive mutations in
BVES encoding a cAMP-binding protein, characterized by progressive muscular dystrophy …

The muscular dystrophies are a heterogeneous group of genetically inherited diseases
characterized by muscle weakness and progressive wasting, which can cause premature …

Limb girdle muscular dystrophy (LGMD) 2A/R1, caused by mutations in the CAPN3 gene
and CAPN3 loss of function, is known to play a role in disease pathogenicity. In this study …