Publications:

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Up-regulation of voltage-gated sodium channels by peptides mimicking S4-S5 linkers reveals a variation of the ligand-receptor mechanism.

Scientific Reports

Malak, Olfat A OA; Abderemane-Ali, Fayal F; Wei, Yue Y; Coyan, Fabien C FC; Pontus, Gilyane G; Shaya, David D; Marionneau, Céline C; Loussouarn, Gildas G

Publication Date: 2020-04-03

Variant appearance in text: SCN4A: A1152D

PubMed Link: 32246066

Variant Present in the following documents:

• Main text
• 41598_2020_Article_62615.pdf

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: HYPP: A1152D

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.

Neurology

Desaphy, Jean-François JF; Carbonara, Roberta R; D'Amico, Adele A; Modoni, Anna A; Roussel, Julien J; Imbrici, Paola P; Pagliarani, Serena S; Lucchiari, Sabrina S; Lo Monaco, Mauro M; Conte Camerino, Diana D

Publication Date: 2016-05-31

Variant appearance in text: Nav1.4: A1152D

PubMed Link: 27164696

Variant Present in the following documents:

• Main text
• NEUROLOGY2015695692.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HYPP: A1152D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN4A: A1152D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Skeletal muscle na channel disorders.

Frontiers In Pharmacology

Simkin, Dina D; Bendahhou, Saïd S

Publication Date: 2011

Variant appearance in text: Nav1.4: A1152D

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

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A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

The Journal Of Physiology

Bouhours, Magali M; Luce, Sandrine S; Sternberg, Damien D; Willer, Jean Claude JC; Fontaine, Bertrand B; Tabti, Nacira N

Publication Date: 2005-06-01

Variant appearance in text: SCN4A: A1152D

PubMed Link: 15790667

Variant Present in the following documents:

• Main text

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