A Rising Titan: TTN Review and Mutation Update
C Chauveau, J Rowell, A Ferreiro - Human mutation, 2014 - Wiley Online Library
The 364 exon TTN gene encodes titin (TTN), the largest known protein, which plays key
structural, developmental, mechanical, and regulatory roles in cardiac and skeletal muscles …
structural, developmental, mechanical, and regulatory roles in cardiac and skeletal muscles …
Muscle giants: molecular scaffolds in sarcomerogenesis
A Kontrogianni-Konstantopoulos… - Physiological …, 2009 - journals.physiology.org
Myofibrillogenesis in striated muscles is a highly complex process that depends on the
coordinated assembly and integration of a large number of contractile, cytoskeletal, and …
coordinated assembly and integration of a large number of contractile, cytoskeletal, and …
The sarcomeric Z-disc: a nodal point in signalling and disease
D Frank, C Kuhn, HA Katus, N Frey - Journal of molecular medicine, 2006 - Springer
The perception of the Z-disc in striated muscle has undergone significant changes in the
past decade. Traditionally, the Z-disc has been viewed as a passive constituent of the …
past decade. Traditionally, the Z-disc has been viewed as a passive constituent of the …
Titin force is enhanced in actively stretched skeletal muscle
K Powers, G Schappacher-Tilp… - Journal of …, 2014 - journals.biologists.com
The sliding filament theory of muscle contraction is widely accepted as the means by which
muscles generate force during activation. Within the constraints of this theory, isometric …
muscles generate force during activation. Within the constraints of this theory, isometric …
[HTML][HTML] An eccentric calpain, CAPN3/p94/calpain-3
Y Ono, K Ojima, F Shinkai-Ouchi, S Hata, H Sorimachi - Biochimie, 2016 - Elsevier
Calpains are Ca 2+-regulated proteolytic enzymes that are involved in a variety of biological
phenomena. Calpains process substrates by limited proteolysis to modulate various protein …
phenomena. Calpains process substrates by limited proteolysis to modulate various protein …
Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance
JS Beckmann, M Spencer - Neuromuscular Disorders, 2008 - Elsevier
Calpain 3 is a member of the calpain family of calcium-dependent intracellular proteases.
Thirteen years ago it was discovered that mutations in calpain 3 (CAPN3) result in an …
Thirteen years ago it was discovered that mutations in calpain 3 (CAPN3) result in an …
Calpain 3: a key regulator of the sarcomere?
Calpain 3 is a 94‐kDa calcium‐dependent cysteine protease mainly expressed in skeletal
muscle. In this tissue, it localizes at several regions of the sarcomere through binding to the …
muscle. In this tissue, it localizes at several regions of the sarcomere through binding to the …
Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle
C Hayashi, Y Ono, N Doi, F Kitamura, M Tagami… - Journal of Biological …, 2008 - ASBMB
p94/calpain 3 is a skeletal muscle-specific Ca 2+-regulated cysteine protease (calpain), and
genetic loss of p94 protease activity causes muscular dystrophy (calpainopathy). In addition …
genetic loss of p94 protease activity causes muscular dystrophy (calpainopathy). In addition …
Decreased force enhancement in skeletal muscle sarcomeres with a deletion in titin
K Powers, K Nishikawa, V Joumaa… - Journal of …, 2016 - journals.biologists.com
In the cross-bridge theory, contractile force is produced by cross-bridges that form between
actin and myosin filaments. However, when a contracting muscle is stretched, its active force …
actin and myosin filaments. However, when a contracting muscle is stretched, its active force …
[HTML][HTML] Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A)
I Kramerova, JS Beckmann, MJ Spencer - Biochimica et Biophysica Acta …, 2007 - Elsevier
Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the
calpain 3 protease. Mutations in this disease are inherited in an autosomal recessive …
calpain 3 protease. Mutations in this disease are inherited in an autosomal recessive …