Susan Treves

Functional properties of EGFP-tagged skeletal muscle calcium-release channel (ryanodine receptor) expressed in COS-7 cells: sensitivity to caffeine and 4-chloro-m-cresol.

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.

The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1.

Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cells.

Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45.

Ryanodine receptor activation by Ca v 1.2 is involved in dendritic cell major histocompatibility complex class II surface expression.

A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.

Upstream stimulatory factors are involved in the P1 promoter directed transcription of the A beta H-J-J locus.

Minor sarcoplasmic reticulum membrane components that modulate excitation-contraction coupling in striated muscles.

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.

Frequent calcium oscillations lead to NFAT activation in human immature dendritic cells.

Ectosomes released by polymorphonuclear neutrophils induce a MerTK-dependent anti-inflammatory pathway in macrophages.

Agonist-activated Ca2+ influx occurs at stable plasma membrane and endoplasmic reticulum junctions.

Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.

SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenase.

Endogenously determined restriction of food intake overcomes excitation-contraction uncoupling in JP45KO mice with aging.

Hic-5 promotes invadopodia formation and invasion during TGF-β-induced epithelial-mesenchymal transition.

Agrin regulates CLASP2-mediated capture of microtubules at the neuromuscular junction synaptic membrane.

JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.

Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice.

Gain of function in the immune system caused by a ryanodine receptor 1 mutation.

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

Characterization of excitation-contraction coupling components in human extraocular muscles.

Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex.

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.

Functional characterization of orbicularis oculi and extraocular muscles.

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles.

An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

Ca handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.

Current and future therapeutic approaches to the congenital myopathies.

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Atypical periodic paralysis and myalgia: A novel phenotype.

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance.

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.

Extraocular muscle function is impaired in mice.

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.