A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes (Q24656945)

Sarah E Flanagan

6

0 references

Ewan Pearson

Ewan R Pearson

7

0 references

Andrew Tym Hattersley

8

Andrew T Hattersley

0 references

Frances Ashcroft

9

Frances M Ashcroft

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author name string

Peter Proks

2

0 references

Mathilde Lafond

3

0 references

Jussi Aittoniemi

4

0 references

Mark S P Sansom

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

5

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language of work or name

English

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publication date

July 2008

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published in

EMBO Reports

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volume

9

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issue

7

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page(s)

648-54

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cites work

1 reference

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Relationship between the inhibition constant (K1) and the concentration of inhibitor which causes 50 per cent inhibition (I50) of an enzymatic reaction

7 April 2017

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Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

7 April 2017

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Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor

7 April 2017

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Structure of a bacterial multidrug ABC transporter

7 April 2017

1 reference

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Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes

22 April 2017

1 reference

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Structure and mechanism of ABC transporter proteins.

28 September 2017

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Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

28 September 2017

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MgATP activates the beta cell KATP channel by interaction with its SUR1 subunit.

28 September 2017

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Regulation of KATP channel activity by diazoxide and MgADP. Distinct functions of the two nucleotide binding folds of the sulfonylurea receptor

28 September 2017

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28 September 2017

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A structural analysis of asymmetry required for catalytic activity of an ABC-ATPase domain dimer

28 September 2017

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The Walter B. Cannon Physiology in Perspective Lecture, 2007. ATP-sensitive K+ channels and disease: from molecule to malady.

30 May 2018

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Differential nucleotide regulation of KATP channels by SUR1 and SUR2A.

21 January 2018

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Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

21 January 2018

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Signaling in channel/enzyme multimers: ATPase transitions in SUR module gate ATP-sensitive K+ conductance

21 January 2018

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Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18497752

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Studies of the ATPase activity of the ABC protein SUR1

1 reference

PubMed

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nucleotide-dependent allostery within the ABC transporter ATP-binding cassette: a computational study of the MJ0796 dimer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18497752