Results 111 to 120 of about 157,656 (310)
Cytoskeleton, EarlyView.ABSTRACT Of the three types of cytoskeleton known in animals—actin, microtubules, and intermediate filaments—only actin and microtubules exist in plants. Both play important roles in cellular shaping, organelle movement, organization of the endomembrane system, and cell signaling.
Norman R. Groves +3 more
wiley +1 more source
State-of-the-art Advances in Duchenne Muscular Dystrophy
European Medical Journal, 2017 Duchenne muscular dystrophy (DMD) is a severe and fatal muscle condition affecting young children. Without interventions, affected boys lose the ability to walk independently by the age of 10 and develop progressive cardiac and respiratory failure.
Henriette Van Ruiten +2 more
doaj
Cell Death and DiseaseThe degeneration of the muscle in muscle dystrophies involves complex interactions among the different cell types. Here, we have used datasets from single-nuclei RNA sequencing (snRNAseq) of Duchenne Muscular Dystrophy (DMD) muscle samples to study the ...
Esther Fernández-Simón +9 more
doaj +1 more source
Pharmacological inhibition of PKCθ counteracts muscle disease in a mouse model of duchenne muscular dystrophy [PDF]
, 2017 Inflammation plays a considerable role in the progression of Duchenne Muscular Dystrophy (DMD), a severe muscle disease caused by a mutation in the dystrophin gene. We previously showed that genetic ablation of Protein Kinase C θ (PKCθ) in mdx, the mouse
Benedetti, Anna +8 more
core +2 more sources
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective Pediatric neuropalliative medicine (PNPM) is a recently developed area of subspecialty neurology practice focused on supporting the complex emotional, psychological, and physical aspects of caring for a child with serious neurological disease.
Lauren Treat +2 more
wiley +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Developmental Dynamics, EarlyView.Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo +7 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
iMetaOmics, EarlyView.Chloroplast Genome Analysis Suite (CGAS) is a comprehensive bioinformatics pipeline that streamline chloroplast genome analysis from raw sequencing reads to publication‐ready outputs. The suite integrates 14 specialized modules organized across three sequential phases.
Abdullah, Rushan Yan, Xiaoxuan Tian
wiley +1 more source