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Insulin gene mutations as a cause of permanent neonatal diabetes
- J. Støy, E. L. Edghill, G. Bell
- Medicine, BiologyProceedings of the National Academy of Sciences
- 18 September 2007
Ten heterozygous mutations in the human insulin gene are reported in 16 probands with neonatal diabetes, and it is predicted that they prevent normal folding and progression of proinsulin in the insulin secretory pathway.
KcsA crystal structure as framework for a molecular model of the Na(+) channel pore.
The ability to construct a Na(+) channel pore model consistent with most of the available biophysical and mutational information suggests that the KcsA structural framework may be conserved in voltage-gated channels.
Molecular Modeling of Local Anesthetic Drug Binding by Voltage-Gated Sodium Channels
This work developed a model of the activated, open channel based on the structure of the open MthK channel, which was characterized by bends at the S6 glycine or serine residues, which created a conformation that allowed energetically appropriate docking of the LA drugs.
A structural model of the tetrodotoxin and saxitoxin binding site of the Na+ channel.
Proteolytic Processing Mechanisms in the Biosynthesis of Neuroendocrine Peptides: The Subtilisin-like Proprotein Convertases
Recent findings on the processing of proopiomelanocortin, proinsulin, proglucagon, and several other neuroendocrine precursors by SPC2 and SPC3 are discussed, along with information on the structure, properties, evolution, developmental expression, and regulation of the convertases.
Differences in saxitoxin and tetrodotoxin binding revealed by mutagenesis of the Na+ channel outer vestibule.
Role of outer ring carboxylates of the rat skeletal muscle sodium channel pore in proton block
It is proposed that proton block results from partial protonation of these outer ring car boxylates and that all of the carboxylates contribute to a composite Na+ site.
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
Study of 260 subjects with glucokinase-deficient hyperglycaemia from 42 families with 36 different GCK mutations made it possible to define the clinical profile of this subtype of non-insulin-dependent diabetes mellitus (NIDDM).
Regulatory Roles of the P Domain of the Subtilisin-like Prohormone Convertases*
- An Zhou, S. Martin, G. Lipkind, J. Lamendola, D. Steiner
- BiologyThe Journal of Biological Chemistry
- 1 May 1998
A role for the P domain in regulating the stability, calcium dependence, and pH dependence of the convertases is observed and expressed and characterized various P domain-related mutants and chimeras.
Mechanism of local anesthetic drug action on voltage-gated sodium channels.
The combination of mutational study of the cloned Na channels and patch clamp offers the opportunity to understand the detailed molecular mechanism of drug action and to resolve drug structure-function.