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Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
TLDR
It is concluded that the tissue-specific impact ofSTIM1 loss or constitutive activation is different and that a tight regulation of STIM1-dependent SOCE is fundamental for normal skeletal-muscle structure and function. Expand
MUSK, a new target for mutations causing congenital myasthenic syndrome.
TLDR
Results strongly suggest that the missense mutation, in the presence of a null mutation on the other allele, is responsible for the dramatic synaptic changes observed in the patient. Expand
Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy
TLDR
It is demonstrated that defects in neuromuscular junctions (NMJs) are part of the disease mechanism in AD-EDMD and insights are provided into the cellular and molecular mechanisms for the muscle-specific phenotype of AD- EDMD. Expand
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy
mTor, acting mainly via mTORC1, controls dystrophin transcription in a raptor- and rictor-independent mechanism.
The origin of tubular aggregates in human myopathies
TLDR
Electron microscopy revealed vesicular budding from nuclei, and the presence of SAR‐1 GTPase protein in tubular aggregates shown by immunochemistry, in all patients, suggests that tubular aggregation could arise from endoplasmic reticulum exit sites. Expand
Tubular aggregates are from whole sarcoplasmic reticulum origin: alterations in calcium binding protein expression in mouse skeletal muscle during aging
TLDR
The hypothesis that tubular aggregates form a tubular arrangement of a complete sarcoplasmic reticulum containing the junctional, cisternae and longitudinal components of sarcoplasms implicated in calcium homeostasis is supported. Expand
Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
TLDR
Results indicate that the mutation does not interfere with the ability of agrin to induce postsynaptic structures but that it dramatically perturbs the maintenance of the neuromuscular junction. Expand
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
TLDR
Clinical features, muscle biopsy findings or response to therapy were confusing in several patients, so characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and to predict the therapeutic response to anticholinesterase treatments or ephedrine as has been suggested. Expand
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.
TLDR
It is concluded that muscle expression of histone deacetylase 4 may be a key factor for muscle reinnervation and disease progression in patients with amyotrophic lateral sclerosis. Expand
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
TLDR
These mutant mice represent valuable models for elucidating the roles of MuSK for synapse formation, maturation and maintenance as well as for studying the pathophysiology of a CMS due to MuSK mutations. Expand
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