Publications by authors named "Pascale Bomont"

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Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.
Caroline Liénard, Nicolas Pradeilles, Elisabeth Cortier, Cedric Hassen-Khodja, Leticia Arias, Pascale Bomont

Acta Neuropathol Commun· December 2025

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Neurofilaments: Novel findings and future challenges.
Jessy V van Asperen, Farah Kotaich, Damien Caillol, Pascale Bomont

Curr Opin Cell Biol· April 2024

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Gigaxonin Suppresses Epithelial-to-Mesenchymal Transition of Human Cancer Through Downregulation of Snail.
Mysore S Veena, Jungmo J Gahng, Mustafa Alani, Albert Y Ko, Saroj K Basak, Pascale Bomont

Cancer Res Commun· March 2024

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Neuronal Autophagy: Regulations and Implications in Health and Disease.
Caroline Liénard, Alexandre Pintart, Pascale Bomont

Cells· January 2024

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Neurofilaments in health and Charcot-Marie-Tooth disease.
Farah Kotaich, Damien Caillol, Pascale Bomont

Front Cell Dev Biol· December 2023

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A multilevel screening pipeline in zebrafish identifies therapeutic drugs for GAN.
Léa Lescouzères, Cédric Hassen-Khodja, Anaïs Baudot, Benoît Bordignon, Pascale Bomont

EMBO Mol Med· July 2023

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Development of a high-throughput tailored imaging method in zebrafish to understand and treat neuromuscular diseases.
Léa Lescouzères, Benoît Bordignon, Pascale Bomont

Front Mol Neurosci· September 2022

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The dazzling rise of neurofilaments: Physiological functions and roles as biomarkers.
Pascale Bomont

Curr Opin Cell Biol· February 2021

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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).
Daniel J Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, Mahmoud Abdellatif, Asghar Abdoli, Pascale Bomont

Autophagy· January 2021

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E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.
Léa Lescouzères, Pascale Bomont

Front Physiol· October 2020

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Neurofilaments: neurobiological foundations for biomarker applications.
Arie R Gafson, Nicolas R Barthélemy, Pascale Bomont, Roxana O Carare, Heather D Durham

Brain· July 2020

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Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.
Yoan Arribat, Karolina S Mysiak, Léa Lescouzères, Alexia Boizot, Maxime Ruiz, Pascale Bomont

J Clin Invest· December 2019

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GAN (gigaxonin) E3 ligase and ATG16L1: master and commander of autophagosome production.
Pascale Bomont

Autophagy· September 2019

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Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production.
Aurora Scrivo, Patrice Codogno, Pascale Bomont

Nat Commun· February 2019

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Decreased KLHL3 expression is involved in the pathogenesis of pseudohypoaldosteronism type II caused by cullin 3 mutation in vivo.
Sayaka Yoshida, Yuya Araki, Takayasu Mori, Emi Sasaki, Yuri Kasagi, Pascale Bomont

Clin Exp Nephrol· December 2018

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Degradation of the Intermediate Filament Family by Gigaxonin.
Pascale Bomont

Methods Enzymol· October 2016

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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Pascale Bomont

Am J Hum Genet· September 2016

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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Claire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, Majida Charif, Sylvie Gerber, Pascale Bomont

Am J Hum Genet· November 2015

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The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Alexia Boizot, Yasmina Talmat-Amar, Deborah Morrogh, Nancy L Kuntz, Cecile Halbert, Pascale Bomont

Acta Neuropathol Commun· April 2014

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Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
Saleemulla Mahammad, S N Prasanna Murthy, Alessandro Didonna, Boris Grin, Eitan Israeli, Pascale Bomont

J Clin Invest· May 2013

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Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice.
Thibault Ganay, Alexia Boizot, Renaud Burrer, Jean Paul Chauvin, Pascale Bomont

Mol Neurodegener· April 2011

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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Xavier Hubert Jaglin, Karine Poirier, Yoann Saillour, Emmanuelle Buhler, Guoling Tian, Pascale Bomont

Nat Genet· June 2009

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Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
Don W Cleveland, Koji Yamanaka, Pascale Bomont

Hum Mol Genet· April 2009

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Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1.
Florence Dequen, Pascale Bomont, Geneviève Gowing, Don W Cleveland, Jean-Pierre Julien

J Neurochem· October 2008

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Unstable microtubule capture at kinetochores depleted of the centromere-associated protein CENP-F.
Pascale Bomont, Paul Maddox, Jagesh V Shah, Arshad B Desai, Don W Cleveland

EMBO J· November 2005

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