Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na channel mutant (Q81421178)

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8 January 2020

title

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na channel mutant (English)

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2

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Antonio Gambardella

5

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8 January 2020

Massimo Mantegazza

9

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7

Grazia Annesi

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8 January 2020

Rita Restano Cassulini

3

object named as

Rita Restano Cassulini

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8 January 2020

author name string

Raffaella Rusconi

1

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8 January 2020

Giulia Giunti

4

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Silvana Franceschetti

6

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Enzo Wanke

8

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publication date

1 October 2007

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8 January 2020

published in

Journal of Neuroscience

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volume

27

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issue

41

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page(s)

11037-11046

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The extracellular domain of the beta1 subunit is both necessary and sufficient for beta1-like modulation of sodium channel gating

8 January 2020

cites work

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12 December 2020

Functional roles of the extracellular segments of the sodium channel alpha subunit in voltage-dependent gating and modulation by beta1 subunits

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beta 3: an additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics

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From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

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Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

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The intracellular segment of the sodium channel beta 1 subunit is required for its efficient association with the channel alpha subunit

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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

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Sodium channel beta subunits: anything but auxiliary

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Severe myoclonic epilepsy of infancy: extended spectrum of GEFS ?

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Role of the C-terminal domain in inactivation of brain and cardiac sodium channels

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Differential modulation of sodium channel gating and persistent sodium currents by the beta1, beta2, and beta3 subunits

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Pharmacological rescue of human K( ) channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block

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Molecular basis of an inherited epilepsy

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12 December 2020

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine

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12 December 2020

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1

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Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

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Cellular biology of epileptogenesis

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The genetics of human epilepsy

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Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

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Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2

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Alternatively spliced sodium channel transcripts in brain and muscle

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Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

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Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

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Aberrant trafficking of transmembrane proteins in human disease

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Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

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Quality control in the endoplasmic reticulum protein factory

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FRET between cardiac Na channel subunits measured with a confocal microscope and a streak camera

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Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects

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Binding specificity of sea anemone toxins to Nav 1.1-1.6 sodium channels: unexpected contributions from differences in the IV/S3-S4 outer loop.

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Pharmacological chaperones: potential treatment for conformational diseases.

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Severe myoclonic epilepsy in infancy: Dravet syndrome.

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A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

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Regulation of the voltage-gated cardiac sodium channel Nav1.5 by interacting proteins.

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Molecular determinants for modulation of persistent sodium current by G-protein betagamma subunits.

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SCN1A mutations and epilepsy

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Inherited disorders of voltage-gated sodium channels

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Sodium channel mutations in epilepsy and other neurological disorders

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CD8: adhesion molecule, co-receptor and immuno-modulator.

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12 December 2020

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

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International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels

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Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

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A carboxyl-terminal hydrophobic interface is critical to sodium channel function. Relevance to inherited disorders.

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Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

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Role of genetics in the diagnosis and treatment of epilepsy

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Epstein-Barr virus shuttle vector for stable episomal replication of cDNA expression libraries in human cells

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Existence of distinct sodium channel messenger RNAs in rat brain

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12 December 2020

Structure and function of the beta 2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif

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12 December 2020

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

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12 December 2020

Molecular determinants of Na channel function in the extracellular domain of the beta1 subunit

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12 December 2020

Febrile seizures and generalized epilepsy associated with a mutation in the Na -channel beta1 subunit gene SCN1B.

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12 December 2020

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation

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12 December 2020

10.1523/JNEUROSCI.3515-07.2007

Identifiers

DOI

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8 January 2020

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8 January 2020

PubMed publication ID

17928445

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