Results 31 to 40 of about 2,672 (202)
neb: a zebrafish model of nemaline myopathy due to nebulin mutation
Disease Models & Mechanisms, 2012 SUMMARY Nemaline myopathy is one of the most common and severe non-dystrophic muscle diseases of childhood. Patients typically present in infancy with hypotonia, weakness, delayed motor development, and bulbar and respiratory difficulties.
William R. Telfer +4 more
doaj +1 more source
Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds. [PDF]
PLoS ONE, 2015 Several dog breeds are susceptible to developing primary angle closure glaucoma (PACG), which suggests a genetic basis for the disease. We have identified a four-generation Basset Hound pedigree with characteristic autosomal recessive PACG that closely ...
Dina F Ahram +5 more
doaj +1 more source
Functionalization of the BCL6 BTB domain into a noncovalent crystallization chaperone
IUCrJ, 2021 The production of diffraction-quality protein crystals is challenging and often requires bespoke, time-consuming and expensive strategies. A system has been developed in which the BCL6 BTB domain acts as a crystallization chaperone and promiscuous ...
Thomas Zacharchenko, Stephanie Wright
doaj +1 more source
Importance of proteins and mitochondrial changes as freshness indicators in fish muscle post-mortem. [PDF]
J Sci Food AgricAbstract Evaluating protein and mitochondrial alterations post‐mortem can contribute to determining correlations between fish‐processing parameters and ultimate fish muscle quality. The myofibrillar protein alteration during rigor mortis directly affects the texture of fish muscle.
Hematyar N, Policar T, Rustad T.
europepmc +2 more sources
KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination
eLife, 2017 Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray.
Andres Ramirez-Martinez +6 more
doaj +1 more source
Frontiers in Genetics, 2022 Data integration using hierarchical analysis based on the central dogma or common pathway enrichment analysis may not reveal non-obvious relationships among omic data.
Francisco José de Novais +9 more
doaj +1 more source
MyoMed205 Counteracts Titin Hyperphosphorylation and the Expression of Contraction-Regulating Proteins in a Rat Model of HFpEF. [PDF]
J Cachexia Sarcopenia MuscleABSTRACT Background Heart failure with preserved ejection fraction (HFpEF) is associated with exercise intolerance, accompanied by alterations in the peripheral skeletal muscle (SKM). We have recently shown that titin, a giant sarcomere protein, is hyperphosphorylated in HFpEF.
Vahle B +11 more
europepmc +2 more sources
Arquivos de Neuro-Psiquiatria, 2009 Nemaline myopathy (NM) is a congenital disease that leads to hypotonia and feeding difficulties in neonates. Some cases have a more benign course, with skeletal abnormalities later in life.
Nazah Cherif Mohamad Youssef +3 more
doaj +1 more source
Nature Communications, 2020 Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is ...
Johan Lindqvist +15 more
doaj +1 more source
Неврология, нейропсихиатрия, психосоматика, 2019 Objective: to assess the structural and functional state of skeletal muscles in the hip, as well as changes in the content of the sarcomere cytoskeleton proteins titin and nebulin and their phosphorylation level in patients with chronic alcohol ...
O. E. Zinovyeva +8 more
doaj +1 more source