Actin behavior in bulk cytoplasm is cell cycle regulated in early vertebrate embryos [PDF]
The mechanical properties of cells change as they proceed through the cell cycle, primarily owing to regulation of actin and myosin II. Most models for cell mechanics focus on actomyosin in the cortex and ignore possible roles in bulk cytoplasm.
Abe+52 more
core +3 more sources
With the long-term goal of finding therapeutic options for Duchenne muscular dystrophy, a mouse model enabling simultaneous visualisation of Dmd and Utrn is described and inhibitors of PRC2 and ERK1/2 identified to increase utrophin expression.
Hannah J. Gleneadie+10 more
doaj +1 more source
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
Subtle Neuromuscular Defects in Utrophin-deficient Mice [PDF]
Utrophin is a large cytoskeletal protein that is homologous to dystrophin, the protein mutated in Duchenne and Becker muscular dystrophy. In skeletal muscle, dystrophin is broadly distributed along the sarcolemma whereas utrophin is concentrated at the neuromuscular junction.
Joshua R. Sanes+2 more
openaire +3 more sources
Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core +3 more sources
Objectives: Preferential damage to fast, glycolytic myofibers is common in many muscle-wasting diseases, including Duchenne muscular dystrophy (DMD).
Justin P. Hardee+16 more
doaj
The Heterotaxy Gene CCDC11 Is Important for Cytokinesis via RhoA Regulation
ABSTRACT Mutations in CCDC11 (cfap53) have been identified in multiple patients with heterotaxy (Htx), a disorder of left–right (LR) patterning of the internal organs. In Xenopus, depletion of Ccdc11 causes defects in LR patterning, recapitulating the patient phenotype. Upon Ccdc11 depletion, monociliated cells of the Left–Right Organizer (LRO) exhibit
Saurabh S. Kulkarni+9 more
wiley +1 more source
Molecular heterogeneity of the dystrophin-associated protein complex in the mouse kidney nephron: differential alterations in the absence of utrophin and dystrophin [PDF]
The dystrophin-associated protein complex (DPC) consisting of syntrophin, dystrobrevin, and dystroglycan isoforms is associated either with dystrophin or its homolog utrophin.
Fritschy, Jean-Marc+2 more
core
WH2 and proline-rich domains of WASP-family proteins collaborate to accelerate actin filament elongation. [PDF]
WASP-family proteins are known to promote assembly of branched actin networks by stimulating the filament-nucleating activity of the Arp2/3 complex.
Akin, Orkun+6 more
core +1 more source
Identification of new dystroglycan complexes in skeletal muscle. [PDF]
The dystroglycan complex contains the transmembrane protein β-dystroglycan and its interacting extracellular mucin-like protein α-dystroglycan. In skeletal muscle fibers, the dystroglycan complex plays an important structural role by linking the ...
Eric K Johnson+6 more
doaj +1 more source