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Malignant hyperthermia (MH) is an autosomal dominant disorder which is potentially lethal in susceptible individuals on exposure to commonly used inhalational anaesthetics and depolarising muscle relaxants. Crises reflect the consequences of disturbed skeletal muscle calcium homeostasis. Susceptibility was first localised to chromosome 19q13.1 and the(More)
The sulfated bile alcohol scymnol sulfate (ScyS), 3 alpha,7 alpha,12 alpha,24 xi, 26,27-hexahydroxy-5 beta-cholestane-26(27)-sulfate, is the major bile salt in bile of an elasmobranch, the little skate. To investigate hepatic transport of bile alcohols in skate liver, [3H]ScyS and a potential precursor, 3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestane(More)
Spinal Muscular Atrophy is due to the loss of SMN1 gene function. The duplicate gene SMN2 produces some, but not enough, SMN protein because most transcripts lack exon 7. Thus, promoting the inclusion of this exon is a therapeutic option. We show that a somatic gene therapy using the gene for a modified U7 RNA which stimulates this splicing has a profound(More)
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