Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
Skeletal Muscle, 2019 Background Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines.
Luciano Merlini +9 more
doaj +1 more source
Deep Proteomics of Mouse Skeletal Muscle Enables Quantitation of Protein Isoforms, Metabolic Pathways, and Transcription Factors [PDF]
, 2015 Skeletal muscle constitutes 40% of individual body mass and plays vital roles in locomotion and whole-body metabolism. Proteomics of skeletal muscle is challenging because of highly abundant contractile proteins that interfere with detection of ...
Cox, J. +5 more
core +1 more source
Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle [PDF]
, 2018 Balázs Kiss +7 more
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Semantic distillation: a method for clustering objects by their contextual specificity
, 2007 Techniques for data-mining, latent semantic analysis, contextual search of databases, etc. have long ago been developed by computer scientists working on information retrieval (IR).
AN Langville +26 more
core +3 more sources
Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies [PDF]
, 2014 Vilma‐Lotta Lehtokari +18 more
openalex +1 more source
Length Regulation of Thin Filaments without Nebulin.
Proceedings of the Japan Academy, Series B, 1994 Recent work has suggested that the length of thin filaments in skeletal muscles is determined by a protein ruler, nebulin, located along the long axis of thin filaments. To examine the function of nebulin, the length distribution of the thin filaments was investigated by staining actin filaments with fluorescent rhodamine-phalloidin in rabbit cardiac ...
Kenji YASUDA +3 more
openaire +2 more sources
Generation of a NRAP-overexpressing mutant from a human iPSC line
Stem Cell ResearchCardiomyopathies are a major contributor to cardiovascular mortality and are frequently linked to abnormalities in intercalated discs, which coordinate mechanical and electrical signaling between cardiomyocytes.
Janice Raabe +7 more
doaj +1 more source
Desmin: molecular interactions and putative functions of the muscle intermediate filament protein
Brazilian Journal of Medical and Biological Research, 2004 Desmin is the intermediate filament (IF) protein occurring exclusively in muscle and endothelial cells. There are other IF proteins in muscle such as nestin, peripherin, and vimentin, besides the ubiquitous lamins, but they are not unique to muscle ...
M.L. Costa +4 more
doaj +1 more source
Purification and characterisation of 20S proteasome from ostrich skeletal muscle and its role in meat tenderisation [PDF]
, 2004 The proteasome is renowned for its high molecular weight, multisubunit and mulicatalytic nature. One of its many suggested roles is the degradation of myofibrillar proteins, and therefore it has been proposed to play a role in the meat tenderisation ...
Thomas, Adele René
core +1 more source
Expression and Purification of Large Nebulin Fragments and Their Interaction with Actin [PDF]
, 1998 Jian Q. Zhang +2 more
openalex +1 more source