between KATP Gain of Channel Activity and Loss of Channel Expression

ATP-sensitive potassium channels in health and disease

Proks, P
Clarke, R
Islam, MS

October 2014

The ATP-sensitive potassium (KATP) channel plays a crucial role in insulin secretion and thus glucos...

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.

Tammaro, P
Proks, P
Ashcroft, F

January 2006

ATP-sensitive K+ (K(ATP)) channels are hetero-octamers of inwardly rectifying K+ channel (Kir6.2) an...

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn, AL
Diatloff-Zito, C
Edghill, EL
Bellanné-Chantelot, C
Nivot, S
Coutant, R
Ellard, S
Hattersley, AT
Robert, JJ

July 2006

Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subun...

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with early onset diabetes and a mild form of intermediate DEND: a battle between KATP gain of channel activity and loss of channel expression.

Lin, Y. W
Li, A
Grasso ,V
Battaglia, D
Crinò, A
Colombo, C
Nichols, CG
BARBETTI, FABRIZIO

January 2013

ATP-sensitive potassium (KATP) channels are widely distributed in various tissues and cell types whe...

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between KATP Gain of Channel Activity and Loss of Channel Expression

Yu-wen Lin
Anlong Li
Valeria Grasso
Domenica Battaglia
Carlo Colombo
Fabrizio Barbetti
Colin G. Nichols

October 2016

ATP-sensitive potassium (KATP) channels are widely distributed in various tissues and cell types whe...

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression

Lin, Y
Li, A
Grasso, V
Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)
Crin\uf2, A
Colombo, C
Barbetti, F
Nichols, Cg

January 2013

ATP-sensitive potassium (K(ATP)) channels are widely distributed in various tissues and cell types w...

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

Proks, P
Girard, C
Ashcroft, FM

September 2005

Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-form...

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.

Vedovato, N.
Cliff, E.
Proks, P.
Poovazhagi, V.
Flanagan, S. E.
Ellard, Sian
Hattersley, Andrew T.
Ashcroft, F. M.

July 2016

The pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell meta...

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

Shimomura, K
Girard, CA
Proks, P
Nazim, J
Lippiat, JD
Cerutti, F
Lorini, R
Ellard, S
Hattersley, AT
Barbetti, F
Ashcroft, FM

June 2006

Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensit...

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects

Shimomura K
Girard CA
Proks P
Nazim J
Lippiat JD
Cerutti F
Lorini R
Ellard S
Hattersley AT
Ashcroft FM
BARBETTI, FABRIZIO

January 2006

Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensit...

KCNJ11 mutations cause sever neuropsychological deficits

Day, Jacob O.
Torrens, L.
Bowman, Pamela
Shepherd, Maggie
Chakera, Ali J.
Hattersley, Andrew T.
Zeman, Adam

January 2016

KCNJ11 encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel present in br...

Relapsing diabetes can result from moderately activating mutations in KCNJ11

Gloyn, Anna L.
Reimann, Frank
Girard, Christophe
Edghill, Emma L.
Proks, Peter
Pearson, Ewan R.
Temple, I. Karen
Mackay, Deborah J.G.
Shield, Julian P.H.
Freedenberg, Debra
Noyes, Kathryn
Ellard, Sian
Ashcroft, Frances M.
Gribble, Fiona M.
Hattersley, Andrew T.

January 2005

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenot...

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn, A
Reimann, F
Girard, C
Edghill, E
Proks, P
Pearson, E
Temple, I
Mackay, D
Shield, J
Freedenberg, D
Noyes, K
Ellard, S
Ashcroft, F
Gribble, F
Hattersley, A

January 2005

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenot...

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

Gole, E.
Oikonomou, S.
Ellard, Sian
De Franco, E.
Karavanaki, K.

June 2018

Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 m...

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

Proks, P
Girard, C
Haider, S
Gloyn, AL
Hattersley, AT
Sansom, MS
Ashcroft, FM

May 2005

Inwardly rectifying potassium (Kir) channels control cell membrane K+ fluxes and electrical signalli...

ATP-sensitive potassium channels in health and disease

Proks, P
Clarke, R
Islam, MS

October 2014

The ATP-sensitive potassium (KATP) channel plays a crucial role in insulin secretion and thus glucos...

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.

Tammaro, P
Proks, P
Ashcroft, F

January 2006

ATP-sensitive K+ (K(ATP)) channels are hetero-octamers of inwardly rectifying K+ channel (Kir6.2) an...

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn, AL
Diatloff-Zito, C
Edghill, EL
Bellanné-Chantelot, C
Nivot, S
Coutant, R
Ellard, S
Hattersley, AT
Robert, JJ

July 2006

Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subun...

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with early onset diabetes and a mild form of intermediate DEND: a battle between KATP gain of channel activity and loss of channel expression.

Lin, Y. W
Li, A
Grasso ,V
Battaglia, D
Crinò, A
Colombo, C
Nichols, CG
BARBETTI, FABRIZIO

January 2013

ATP-sensitive potassium (KATP) channels are widely distributed in various tissues and cell types whe...

Functional Characterization of a Novel KCNJ11 in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between KATP Gain of Channel Activity and Loss of Channel Expression

Yu-wen Lin
Anlong Li
Valeria Grasso
Domenica Battaglia
Carlo Colombo
Fabrizio Barbetti
Colin G. Nichols

October 2016

ATP-sensitive potassium (KATP) channels are widely distributed in various tissues and cell types whe...

Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression

Lin, Y
Li, A
Grasso, V
Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)
Crin\uf2, A
Colombo, C
Barbetti, F
Nichols, Cg

January 2013

ATP-sensitive potassium (K(ATP)) channels are widely distributed in various tissues and cell types w...

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

Proks, P
Girard, C
Ashcroft, FM

September 2005

Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-form...

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.

Vedovato, N.
Cliff, E.
Proks, P.
Poovazhagi, V.
Flanagan, S. E.
Ellard, Sian
Hattersley, Andrew T.
Ashcroft, F. M.

July 2016

The pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell meta...

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

Shimomura, K
Girard, CA
Proks, P
Nazim, J
Lippiat, JD
Cerutti, F
Lorini, R
Ellard, S
Hattersley, AT
Barbetti, F
Ashcroft, FM

June 2006

Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensit...

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects

Shimomura K
Girard CA
Proks P
Nazim J
Lippiat JD
Cerutti F
Lorini R
Ellard S
Hattersley AT
Ashcroft FM
BARBETTI, FABRIZIO

January 2006

Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensit...

KCNJ11 mutations cause sever neuropsychological deficits

Day, Jacob O.
Torrens, L.
Bowman, Pamela
Shepherd, Maggie
Chakera, Ali J.
Hattersley, Andrew T.
Zeman, Adam

January 2016

KCNJ11 encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel present in br...

Relapsing diabetes can result from moderately activating mutations in KCNJ11

Gloyn, Anna L.
Reimann, Frank
Girard, Christophe
Edghill, Emma L.
Proks, Peter
Pearson, Ewan R.
Temple, I. Karen
Mackay, Deborah J.G.
Shield, Julian P.H.
Freedenberg, Debra
Noyes, Kathryn
Ellard, Sian
Ashcroft, Frances M.
Gribble, Fiona M.
Hattersley, Andrew T.

January 2005

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenot...

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Gloyn, A
Reimann, F
Girard, C
Edghill, E
Proks, P
Pearson, E
Temple, I
Mackay, D
Shield, J
Freedenberg, D
Noyes, K
Ellard, S
Ashcroft, F
Gribble, F
Hattersley, A

January 2005

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenot...

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

Gole, E.
Oikonomou, S.
Ellard, Sian
De Franco, E.
Karavanaki, K.

June 2018

Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 m...

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

Proks, P
Girard, C
Haider, S
Gloyn, AL
Hattersley, AT
Sansom, MS
Ashcroft, FM

May 2005

Inwardly rectifying potassium (Kir) channels control cell membrane K+ fluxes and electrical signalli...

ATP-sensitive potassium channels in health and disease

Proks, P
Clarke, R
Islam, MS

October 2014

The ATP-sensitive potassium (KATP) channel plays a crucial role in insulin secretion and thus glucos...

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.

Tammaro, P
Proks, P
Ashcroft, F

January 2006

ATP-sensitive K+ (K(ATP)) channels are hetero-octamers of inwardly rectifying K+ channel (Kir6.2) an...

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

Gloyn, AL
Diatloff-Zito, C
Edghill, EL
Bellanné-Chantelot, C
Nivot, S
Coutant, R
Ellard, S
Hattersley, AT
Robert, JJ

July 2006

Heterozygous activating mutations in the gene encoding for the ATP-sensitive potassium channel subun...

between KATP Gain of Channel Activity and Loss of Channel Expression

Abstract

Extracted data

between KATP Gain of Channel Activity and Loss of Channel Expression

Abstract

Extracted data

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