Ankyrins and human disease: what the electrophysiologist should know (Q34541948)

2 August 2017

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title

Ankyrins and human disease: what the electrophysiologist should know (English)

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2 August 2017

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Peter J Mohler

1

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2 August 2017

27 June 2006

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Journal of Cardiovascular Electrophysiology

2 August 2017

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2 August 2017

17

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2 August 2017

10

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2 August 2017

1153-1159

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cDNA sequence for human erythrocyte ankyrin

2 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-B is required for intracellular sorting of structurally diverse Ca2+ homeostasis proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Nervous system defects of AnkyrinB (-/-) mice suggest functional overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB in premyelinated axons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Identification of a novel ankyrin isoform (AnkG190) in kidney and lung that associates with the plasma membrane and binds alpha-Na, K-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

AnkyrinG. A new ankyrin gene with neural-specific isoforms localized at the axonal initial segment and node of Ranvier

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-binding proteins related to nervous system cell adhesion molecules: candidates to provide transmembrane and intercellular connections in adult brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Structural requirements for outside-in and inside-out signaling by Drosophila neuroglian, a member of the L1 family of cell adhesion molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Structural requirements for association of neurofascin with ankyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Mouse T lymphoma cells contain a transmembrane glycoprotein (GP85) that binds ankyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-binding domain of CD44(GP85) is required for the expression of hyaluronic acid-mediated adhesion function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin links fodrin to the alpha subunit of Na,K-ATPase in Madin-Darby canine kidney cells and in intact renal tubule cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin binding to (Na+ + K+)ATPase and implications for the organization of membrane domains in polarized cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Anion exchanger 2 (AE2) binds to erythrocyte ankyrin and is colocalized with ankyrin along the basolateral plasma membrane of human gastric parietal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

The membrane attachment protein for spectrin is associated with band 3 in human erythrocyte membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Sodium channel beta subunits mediate homophilic cell adhesion and recruit ankyrin to points of cell-cell contact

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

The ammonium transporter RhBG: requirement of a tyrosine-based signal and ankyrin-G for basolateral targeting and membrane anchorage in polarized kidney epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Interaction between the N-terminal domain of gastric H,K-ATPase and the spectrin binding domain of ankyrin III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-B coordinates the Na/K ATPase, Na/Ca exchanger, and InsP3 receptor in a cardiac T-tubule/SR microdomain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ryanodine receptor-ankyrin interaction regulates internal Ca2+ release in mouse T-lymphoma cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Isoform specificity of ankyrin-B: a site in the divergent C-terminal domain is required for intramolecular association

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

The death domain of kidney ankyrin interacts with Fas and promotes Fas-mediated cell death in renal epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Three-dimensional structure of a complex between the death domains of Pelle and Tube

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

The ankyrin-B C-terminal domain determines activity of ankyrin-B/G chimeras in rescue of abnormal inositol 1,4,5-trisphosphate and ryanodine receptor distribution in ankyrin-B (-/-) neonatal cardiomyocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Obscurin is a ligand for small ankyrin 1 in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Isoform specificity among ankyrins. An amphipathic alpha-helix in the divergent regulatory domain of ankyrin-b interacts with the molecular co-chaperone Hdj1/Hsp40.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Molecular basis of red cell membrane disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Molecular composition of the node of Ranvier: identification of ankyrin-binding cell adhesion molecules neurofascin (mucin+/third FNIII domain-) and NrCAM at nodal axon segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

beta-Spectrin is colocalized with both voltage-gated sodium channels and ankyrinG at the adult rat neuromuscular junction

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

AnkyrinG is required for clustering of voltage-gated Na channels at axon initial segments and for normal action potential firing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-G coordinates assembly of the spectrin-based membrane skeleton, voltage-gated sodium channels, and L1 CAMs at Purkinje neuron initial segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-based subcellular gradient of neurofascin, an immunoglobulin family protein, directs GABAergic innervation at purkinje axon initial segment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Identification of a Conserved Ankyrin-binding Motif in the Family of Sodium Channel α Subunits

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

A targeting motif involved in sodium channel clustering at the axonal initial segment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Natural history of Brugada syndrome: insights for risk stratification and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Mutations in the hminK gene cause long QT syndrome and suppress IKs function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Local InsP3-dependent perinuclear Ca2+ signaling in cardiac myocyte excitation-transcription coupling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

Ankyrin and spectrin associate with voltage-dependent sodium channels in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00540.X

10.1111/J.1540-8167.2006.00540.X

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference

PubMed ID

16800854