Results 61 to 70 of about 745 (121)
Nebulin is a thin filament protein of the cardiac muscle of the agnathans
, 2002 Fock U, Hinssen H. Nebulin is a thin filament protein of the cardiac muscle of the agnathans. JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY. 2002;23(3):205-213.Nebulin is an integral protein of skeletal muscle thin laments and probably acts as a ruler for
Fock, U, Hinssen, Horst
core +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
Human Mutation, Volume 2026, Issue 1, 2026.Congenital nemaline myopathies are rare genetic disorders that typically manifest at birth or in childhood, with muscle weakness and respiratory distress. They are characterized by the presence of rod‐like structures on the muscle biopsy, or a mix of rods with cores, focal areas with disorganization of oxidative activity. Pathogenic variants in the NEB
Yvan de Feraudy +25 more
wiley +1 more source
Acta Neuropathologica Communications, 2020 Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden.
Jenni M. Laitila +19 more
doaj +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.Genetic neuromuscular diseases are highly heterogeneous disorders characterized by diagnostic challenges and limited therapeutic options, underscoring an urgent need for precise biomarkers. The rapid advancement of multi‐omics technologies has broadened biomarker discovery from single genomics to multidimensional integrative analyses encompassing ...
Suming Zhang +3 more
wiley +1 more source
, 2001 Fock U. Nachweis und Charakterisierung von Nebulin und nebulin-verwandten Proteinen in der Muskulatur von Vertebraten und Invertebraten.
Fock, Ulrike
core
Each Actin Subunit Has Three Nebulin Binding Sites Implications for Steric Blocking [PDF]
, 2002 Nebulin is a giant protein that spans most of the muscle thin filament [1, 2]. Mutations in nebulin result in myopathies and dystrophies [3, 4].
Egelman, Edward H. +11 more
core +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
Nebulin and Lmod2 are critical for specifying thin-filament length in skeletal muscle
, 2020 Regulating the thin-filament length in muscle is crucial for controlling the number of myosin motors that generate power. The giant protein nebulin forms a long slender filament that associates along the length of the thin filament in skeletal muscle ...
Gregorio, Carol +10 more
core +1 more source
Genetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics, Volume 108, Issue 6, Page 678-683, December 2025.We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková +26 more
wiley +1 more source