Functional analysis of a mutant sulphonylurea receptor associated with a mild form of persistent hyperinsulinaemic hypoglycaemia of infancy

Functional analysis of a mutant sulphonylurea receptor associated with a mild form of persistent hyperinsulinaemic hypoglycaemia of infancy

Bibliográfalaš dieđut
Váldodahkkit:	Trapp, S, Jones, P, Matsuo, M, Amachi, T, Ueda, K, Tanizawa, Y, Oka, Y, Ashcroft, F
Materiálatiipa:	Journal article
Almmustuhtton:	2000

Geahča maid

Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy.
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Somatostatin analogues for the treatment of hyperinsulinaemic hypoglycaemia
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NEM modification prevents high-affinity ATP binding to the first nucleotide binding fold of the sulphonylurea receptor, SUR1.
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Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy
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Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia
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An Evaluation of Growth Hormone and IGF-1 Responses in Neonates with Hyperinsulinaemic Hypoglycaemia
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Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
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Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia
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Hyperinsulinaemic hypoglycaemia - a diagnostic challenge. A report of two atypical cases.
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Clinical presentation of 54 patients with endogenous hyperinsulinaemic hypoglycaemia: a neurological chameleon (observational study)
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Accuracy and impact on quality of life of real-time continuous glucose monitoring in children with hyperinsulinaemic hypoglycaemia
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Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation
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Diazoxide use for neonatal hyperinsulinaemic hypoglycaemia in a low-resource setting: A Case Report
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Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase
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Paternal uniparental isodisomy of chromosome 11p15.5 within the pancreas causes isolated hyperinsulinaemic hypoglycaemia
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Hyperinsulinaemic hypoglycaemia in non-anaesthetized Göttingen minipigs induces a counter-regulatory endocrine response and electrocardiographic changes
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Chronic Hyperinsulinaemic Hypoglycaemia in Rats Is Accompanied by Increased Body Weight, Hyperleptinaemia, and Decreased Neuronal Glucose Transporter Levels in the Brain
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Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor.
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Trends in Presentation and Management of Endogenous Hyperinsulinaemic Hypoglycaemia Over the Last Three Decades at a Tertiary Care Centre (1992–2022)
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New uses for old drugs: neonatal diabetes and sulphonylureas.
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Congenital Hyperinsulinemic Hypoglycaemia of Infancy- A Case Report
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Characterization of two novel forms of the rat sulphonylurea receptor SUR1A2 and SUR1BDelta31.
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Effects of protein phosphorylation on the sulphonylurea receptor of the pancreatic beta-cell.
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Interactions between nicorandil and sulphonylureas: a structural basis.
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Binding of sulphonylureas to plasma proteins – a KATP channel perspective
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Binding of sulphonylureas to plasma proteins - A KATP channel perspective.
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Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.
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Promiscuous coupling between the sulphonylurea receptor and inwardly rectifying potassium channels.
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