(Q48009483)

7 February 2018

title

Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy (English)

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7 February 2018

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Norihiko Yokoi

1

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7 February 2018

Yuko Fukata

2

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7 February 2018

Daisuke Kase

3

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7 February 2018

Taisuke Miyazaki

4

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7 February 2018

Martine Jaegle

5

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7 February 2018

Toshika Ohkawa

6

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7 February 2018

Naoki Takahashi

7

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7 February 2018

Hiroko Iwanari

8

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7 February 2018

Yasuhiro Mochizuki

9

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7 February 2018

Takao Hamakubo

10

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7 February 2018

Keiji Imoto

11

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7 February 2018

Dies Meijer

12

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7 February 2018

Masahiko Watanabe

13

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7 February 2018

Masaki Fukata

14

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7 February 2018

language of work or name

English

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publication date

8 December 2014

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7 February 2018

published in

Nature Medicine

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7 February 2018

volume

21

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7 February 2018

issue

1

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7 February 2018

page(s)

19-26

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7 February 2018

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

cites work

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Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

21 January 2018

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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

21 January 2018

1 reference

Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia

21 January 2018

1 reference

Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: a case series

21 January 2018

1 reference

Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors

21 January 2018

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Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice.

21 January 2018

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Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy

21 January 2018

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Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

21 January 2018

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The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1

21 January 2018

1 reference

21 January 2018

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Ataxia and peripheral nerve hypomyelination in ADAM22-deficient mice

21 January 2018

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LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology

21 January 2018

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Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy.

21 January 2018

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LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

21 January 2018

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ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy

21 January 2018

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Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

21 January 2018

1 reference

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF

21 January 2018

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Substrate-specific requirements for UGT1-dependent release from calnexin

21 January 2018

1 reference

The rapidly expanding CREC protein family: members, localization, function, and role in disease.

21 January 2018

1 reference

The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface

21 January 2018

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Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling

21 January 2018

1 reference

Functional phylogenetic analysis of LGI proteins identifies an interaction motif crucial for myelination

21 January 2018

1 reference

Fixing cystic fibrosis by correcting CFTR domain assembly

21 January 2018

1 reference

Degradation of CFTR by the ubiquitin-proteasome pathway

21 January 2018

1 reference

In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.

21 January 2018

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Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis

21 January 2018

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Chemical and biological approaches synergize to ameliorate protein-folding diseases.

21 January 2018

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Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes

21 January 2018

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21 January 2018

Conformational disease

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Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

21 January 2018

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Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease

21 January 2018

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Proteostasis modulators prolong missense VHL protein activity and halt tumor progression

21 January 2018

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The GABAA receptor alpha1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation

21 January 2018

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Clinical and experimental applications of sodium phenylbutyrate

21 January 2018

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Phenylglycine and sulfonamide correctors of defective delta F508 and G551D cystic fibrosis transmembrane conductance regulator chloride-channel gating

21 January 2018

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Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770

21 January 2018

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Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

21 January 2018

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TARPs gamma-2 and gamma-7 are essential for AMPA receptor expression in the cerebellum

21 January 2018

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A combinatorial G protein-coupled receptor reconstitution system on budded baculovirus. Evidence for Galpha and Galphao coupling to a human leukotriene B4 receptor.

21 January 2018

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Viral envelope protein gp64 transgenic mouse facilitates the generation of monoclonal antibodies against exogenous membrane proteins displayed on baculovirus

21 January 2018

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Selective scarcity of NMDA receptor channel subunits in the stratum lucidum (mossy fibre-recipient layer) of the mouse hippocampal CA3 subfield

21 January 2018

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Mobile DHHC palmitoylating enzyme mediates activity-sensitive synaptic targeting of PSD-95

21 January 2018

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G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences

21 January 2018

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Endogenous serine protease inhibitor modulates epileptic activity and hippocampal long-term potentiation

21 January 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/25485908

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NM.3759

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7 February 2018

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7 February 2018