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Francesco Zorzato

Researcher at University of Ferrara

Publications -  127
Citations -  8640

Francesco Zorzato is an academic researcher from University of Ferrara. The author has contributed to research in topics: Ryanodine receptor & Skeletal muscle. The author has an hindex of 41, co-authored 124 publications receiving 8172 citations. Previous affiliations of Francesco Zorzato include University Hospital of Basel & Kyoto University.

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Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia

TL;DR: Haplotyping suggests that the mutation in all five breeds of lean, heavily muscled swine has a common origin, and the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.
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Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.

TL;DR: Analysis of the cDNAs encoding the rabbit and human forms of the Ca2+ release channel of sarcoplasmic reticulum indicates that 10 potential transmembrane sequences in the COOH-terminal fifth of the molecule and two additional, potential trans membrane sequences nearer to the center of the molecules could contribute to the formation of theCa2+ conducting pore.
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Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum.

TL;DR: Analysis of predicted secondary structures and hydropathy plots suggests that the two isoforms exhibit the same topology in both transmembrane and cytoplasmic domains, and suggests that a modulator binding domain in the protein lies between residues 2619 and 3016.
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Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia

TL;DR: Co-segregation of MH with RYRmarkers, resulting in a lod score of 4.20 at a linkage distance of zero centimorgans, indicates that MH is likely to be caused by mutations in the RYR gene.