Results 61 to 70 of about 5,338 (235)
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. [PDF]
, 2015 Dominant mutations in TPM3, encoding α-tropomyosin(slow), cause a congenital myopathy characterized by generalized muscle weakness. Here, we used a multidisciplinary approach to investigate the mechanism of muscle dysfunction in 12 TPM3-myopathy patients.
Beggs, AH +14 more
core +1 more source
Titin Isoform Size is Not Correlated with Thin Filament Length in Rat Skeletal Muscle
Frontiers in Physiology, 2014 The mechanisms controlling thin filament length in muscle remain controversial. It was recently reported that thin filament length was related to titin size, and that the latter might be involved in thin filament length determination.
Marion Lewis Greaser +1 more
doaj +1 more source
Effect of Load on Non‐Muscle Myosin 2 Paralog Filaments in a Biomimetic Contractile Actin Array
Small, Volume 22, Issue 3, 13 January 2026.The main paralogs of non‐muscle myosin 2 are studied on a micropatterned array of anti‐parallel actin filaments. This sarcomere‐like platform reveals myosin's load‐dependent behavior, and the resulting tension is quantified using embedded FRET sensors for both myosin and anchored actin.
Philip Bleicher +8 more
wiley +1 more source
Scientific Reports, 2023 Triple-negative breast cancer (TNBC) subtype is characterized by aggressive clinical behavior and poor prognosis patient outcomes. Here, we show that ADAR1 is more abundantly expressed in infiltrating breast cancer (BC) tumors than in benign tumors ...
Najat Binothman +14 more
doaj +1 more source
Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.ABSTRACT Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional ...
Louise Medaer +13 more
wiley +1 more source
The complexity of titin splicing pattern in human adult skeletal muscles [PDF]
, 2018 Background: Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a high degree of complexity, isoform-specific elements, and metatranscript ...
Auvinen, Petri +6 more
core +3 more sources
Nebulin binding impedes mutant desmin filament assembly
Molecular Biology of the Cell, 2013 Desmin intermediate filaments (DIFs) form an intricate meshwork that organizes myofibers within striated muscle cells. The mechanisms that regulate the association of desmin to sarcomeres and their role in desminopathy are incompletely understood. Here we compare the effect nebulin binding has on the assembly kinetics of desmin and three desminopathy ...
Baker, Laura K. +5 more
openaire +2 more sources
Current Research in Food Science, 2022 Dipeptidyl peptidase-IV (DPP-IV) inhibitory peptides from fermented foods exhibit great potential to alleviate type 2 diabetes mellitus (T2DM). In this study, the DPP-IV inhibition activity of peptide extract from Chouguiyu was obviously enhanced after 4–
Daqiao Yang +7 more
doaj +1 more source
OXPHOS complex deficiency in congenital myopathy: A systematic review
European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez +4 more
wiley +1 more source
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy [PDF]
, 2014 Peer ...
Adele D’Amico +73 more
core +1 more source