Francesco Zorzato

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.

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

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.

Myopathy caused by mammalian target of rapamycin complex 1 (mTORC1) inactivation is not reversed by restoring mitochondrial function.

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

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

The corepressor NCoR1 antagonizes PGC-1α and estrogen-related receptor α in the regulation of skeletal muscle function and oxidative metabolism.

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.

The transcriptional coactivator PGC-1α is dispensable for chronic overload-induced skeletal muscle hypertrophy and metabolic remodeling.

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.

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

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.

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.

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.