Results 41 to 50 of about 2,672 (202)
Nebulin and titin expression in Duchenne muscular dystrophy appears normal
, 1987 Monoclonal antibodies which recognize different epitopes on either titin or nebulin show normal staining patterns on frozen sections of three muscle biopsies of Duchenne muscular dystrophy (DMD). Gel electrophoresis and immunoblotting performed on two of
Nave, R. +26 more
core +2 more sources
Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin
, 2022 In skeletal muscle, nebulin stabilizes and regulates the length of thin filaments, but the underlying mechanism remains nebulous. In this work, we used cryo-electron tomography and subtomogram averaging to reveal structures of native nebulin bound to ...
Gautel, Mathias +13 more
core +1 more source
The LIM and SH3 domain protein family: structural proteins or signal transducers or both?
Molecular Cancer, 2008 LIM and SH3 Protein 1 (LASP-1) was initially identified from a cDNA library of metastatic axillary lymph nodes (MLN) more than a decade ago. It was found to be overexpressed in human breast and ovarian cancer and became the first member of a newly ...
Butt Elke, Grunewald Thomas GP
doaj +1 more source
Stem Cell Research, 2020 Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder caused by mutations in the nebulin (NEB) gene. We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line SDQLCHi017-A, derived from a 1-
Yanyan Ma +8 more
doaj +1 more source
Nebulin no longer nebulous [PDF]
Journal of General Physiology, 2018 JGP study probes how nebulin affects muscle function.
openaire +1 more source
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Acta Neuropathologica Communications, 2018 Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal +5 more
doaj +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
Evolutionary Applications, Volume 19, Issue 6, June 2026.ABSTRACT Horses are major domestic animals and cultural symbols that have accompanied humans for millennia. They underpin transport, agriculture, warfare and sport, and also provide a model for studying domestication, complex traits and adaptive evolution.
Ying Lu +6 more
wiley +1 more source
Clinical Manifestation of Nebulin-Associated Nemaline Myopathy
Neurology Genetics, 2023 Nemaline myopathy (NM) is a genetically heterogeneous inherited myopathy related with at least 12 genes, whereas pathogenic variants in NEB gene are the most common genetic cause. The clinical spectrum of NM caused by NEB pathogenic variants (NM-NEB) is very broad, ranging from mild to severe presentations manifesting with generalized weakness, as well
Cristiane Araujo Martins Moreno +13 more
openaire +2 more sources
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