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Thomas J. Jentsch - One of the best experts on this subject based on the ideXlab platform.

  • a constitutively open Potassium Channel formed by kcnq1 and kcne3
    Nature, 2000
    Co-Authors: Bjorn C Schroeder, Markus Bleich, Siegfried Waldegger, Rainer Greger, Richard Warth, Susanne Fehr, Thomas J. Jentsch
    Abstract:

    Mutations in all four known KCNQ Potassium Channel α-subunit genes lead to human diseases1,2,3,4,5,6. KCNQ1 (KvLQT1)1 interacts with the β-subunit KCNE1 (IsK, minK)7 to form the slow, depolarization-activated Potassium current IKs8,9 that is affected in some forms of cardiac arrhythmia. Here we show that the novel β-subunit KCNE3 markedly changes KCNQ1 properties to yield currents that are nearly instantaneous and depend linearly on voltage. It also suppresses the currents of KCNQ4 and HERG Potassium Channels. In the intestine, KCNQ1 and KCNE3 messenger RNAs colocalized in crypt cells. This localization and the pharmacology, voltage-dependence and stimulation by cyclic AMP of KCNQ1/KCNE3 currents indicate that these proteins may assemble to form the Potassium Channel that is important for cyclic AMP-stimulated intestinal chloride secretion and that is involved in secretory diarrhoea and cystic fibrosis.

  • a constitutively open Potassium Channel formed by kcnq1 and kcne3
    Nature, 2000
    Co-Authors: Bjorn C Schroeder, Markus Bleich, Siegfried Waldegger, Rainer Greger, Richard Warth, Susanne Fehr, Thomas J. Jentsch
    Abstract:

    Mutations in all four known KCNQ Potassium Channel alpha-subunit genes lead to human diseases. KCNQ1 (KvLQT1) interacts with the beta-subunit KCNE1 (IsK, minK) to form the slow, depolarization-activated Potassium current I(Ks) that is affected in some forms of cardiac arrhythmia. Here we show that the novel beta-subunit KCNE3 markedly changes KCNQ1 properties to yield currents that are nearly instantaneous and depend linearly on voltage. It also suppresses the currents of KCNQ4 and HERG Potassium Channels. In the intestine, KCNQ1 and KCNE3 messenger RNAs colocalized in crypt cells. This localization and the pharmacology, voltage-dependence and stimulation by cyclic AMP of KCNQ1/KCNE3 currents indicate that these proteins may assemble to form the Potassium Channel that is important for cyclic AMP-stimulated intestinal chloride secretion and that is involved in secretory diarrhoea and cystic fibrosis.

  • a Potassium Channel mutation in neonatal human epilepsy
    Science, 1998
    Co-Authors: Christian Biervert, Thomas J. Jentsch, Bjorn C Schroeder, Christian Kubisch, Samuel F Berkovic, Peter Propping, Ortrud K Steinlein
    Abstract:

    Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a Potassium Channel gene (KCNQ2) located on 20q13.3 was isolated and found to be expressed in brain. Expression of KCNQ2 in frog (Xenopus laevis) oocytes led to Potassium-selective currents that activated slowly with depolarization. In a large pedigree with BFNC, a five-base pair insertion would delete more than 300 amino acids from the KCNQ2 carboxyl terminus. Expression of the mutant Channel did not yield measurable currents. Thus, impairment of Potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome.

Francesc Graus - One of the best experts on this subject based on the ideXlab platform.

  • rapid eye movement sleep behavior disorder and Potassium Channel antibody associated limbic encephalitis
    Annals of Neurology, 2006
    Co-Authors: Francesc Graus, Linda Clover, Jaume Morera, Jordi Bruna, Carlos Vilar, Jose E Martinezrodriguez, Angela Vincent, Joan Santamaria
    Abstract:

    Of six patients registered in our center with nonparaneoplastic limbic encephalitis associated with antibodies to voltage-gated Potassium Channels, the five men had rapid eye movement sleep behavior disorder (RBD) coincident with voltage-gated Potassium Channel antibody-associated limbic encephalitis onset. In three patients, immunosuppression resulted in resolution of RBD in parallel with remission of the limbic syndrome. RBD persisted in two patients with partial resolution of the limbic syndrome. Our findings suggest that RBD is frequent in the setting of voltage-gated Potassium Channel antibody-associated limbic encephalitis and can be related to autoimmune-mediated mechanisms. In addition, these observations suggest that impairment of the limbic system may play a role in the pathogenesis of RBD.

  • voltage gated Potassium Channel antibodies in limbic encephalitis
    Annals of Neurology, 2003
    Co-Authors: Angela Vincent, Linda Clover, Albert Saiz, Patricia Pozorosich, Francesc Graus
    Abstract:

    We found voltage-gated Potassium Channel (VGKC) antibodies in 4 of 15 patients with limbic encephalitis (LE). Two patients with idiopathic LE had high VGKC antibody levels (>800pM; controls <100pM), that fell in parallel with a clinical response to immunotherapy. Two patients with lower VGKC antibodies (170pM, 300pM) had lung cancer (radiological evidence only in one) and the LE improved with immunotherapy in one. The other 11 patients without VGKC antibodies had paraneoplastic LE and eight onconeural antibodies (Hu in 6; Ma2 in 2). VGKC antibodies do not unambiguously discriminate between idiopathic or paraneoplastic LE but probably indicate a good response to immunotherapy. Ann Neurol 2003;54:530-533

Bjorn C Schroeder - One of the best experts on this subject based on the ideXlab platform.

  • a constitutively open Potassium Channel formed by kcnq1 and kcne3
    Nature, 2000
    Co-Authors: Bjorn C Schroeder, Markus Bleich, Siegfried Waldegger, Rainer Greger, Richard Warth, Susanne Fehr, Thomas J. Jentsch
    Abstract:

    Mutations in all four known KCNQ Potassium Channel α-subunit genes lead to human diseases1,2,3,4,5,6. KCNQ1 (KvLQT1)1 interacts with the β-subunit KCNE1 (IsK, minK)7 to form the slow, depolarization-activated Potassium current IKs8,9 that is affected in some forms of cardiac arrhythmia. Here we show that the novel β-subunit KCNE3 markedly changes KCNQ1 properties to yield currents that are nearly instantaneous and depend linearly on voltage. It also suppresses the currents of KCNQ4 and HERG Potassium Channels. In the intestine, KCNQ1 and KCNE3 messenger RNAs colocalized in crypt cells. This localization and the pharmacology, voltage-dependence and stimulation by cyclic AMP of KCNQ1/KCNE3 currents indicate that these proteins may assemble to form the Potassium Channel that is important for cyclic AMP-stimulated intestinal chloride secretion and that is involved in secretory diarrhoea and cystic fibrosis.

  • a constitutively open Potassium Channel formed by kcnq1 and kcne3
    Nature, 2000
    Co-Authors: Bjorn C Schroeder, Markus Bleich, Siegfried Waldegger, Rainer Greger, Richard Warth, Susanne Fehr, Thomas J. Jentsch
    Abstract:

    Mutations in all four known KCNQ Potassium Channel alpha-subunit genes lead to human diseases. KCNQ1 (KvLQT1) interacts with the beta-subunit KCNE1 (IsK, minK) to form the slow, depolarization-activated Potassium current I(Ks) that is affected in some forms of cardiac arrhythmia. Here we show that the novel beta-subunit KCNE3 markedly changes KCNQ1 properties to yield currents that are nearly instantaneous and depend linearly on voltage. It also suppresses the currents of KCNQ4 and HERG Potassium Channels. In the intestine, KCNQ1 and KCNE3 messenger RNAs colocalized in crypt cells. This localization and the pharmacology, voltage-dependence and stimulation by cyclic AMP of KCNQ1/KCNE3 currents indicate that these proteins may assemble to form the Potassium Channel that is important for cyclic AMP-stimulated intestinal chloride secretion and that is involved in secretory diarrhoea and cystic fibrosis.

  • a Potassium Channel mutation in neonatal human epilepsy
    Science, 1998
    Co-Authors: Christian Biervert, Thomas J. Jentsch, Bjorn C Schroeder, Christian Kubisch, Samuel F Berkovic, Peter Propping, Ortrud K Steinlein
    Abstract:

    Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a Potassium Channel gene (KCNQ2) located on 20q13.3 was isolated and found to be expressed in brain. Expression of KCNQ2 in frog (Xenopus laevis) oocytes led to Potassium-selective currents that activated slowly with depolarization. In a large pedigree with BFNC, a five-base pair insertion would delete more than 300 amino acids from the KCNQ2 carboxyl terminus. Expression of the mutant Channel did not yield measurable currents. Thus, impairment of Potassium-dependent repolarization is likely to cause this age-specific epileptic syndrome.

Daiji Saito - One of the best experts on this subject based on the ideXlab platform.

Tetsuya Sato - One of the best experts on this subject based on the ideXlab platform.