Publications by authors named "Alexandre Janer"

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MAPL regulates gasdermin-mediated release of mtDNA from lysosomes to drive pyroptotic cell death.
Mai Nguyen, Jack J Collier, Olesia Ignatenko, Genevieve Morin, Vanessa Goyon, Alexandre Janer

Nat Cell Biol· October 2025

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ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.
Alexandre Janer, Jordan L Morris, Michiel Krols, Hana Antonicka, Mari J Aaltonen

Life Sci Alliance· January 2024

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BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.
Hui Zhong, Alexandre Janer, Oleh Khalimonchuk, Hana Antonicka, Eric A Shoubridge

Nucleic Acids Res· November 2023

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The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.
Jana Schuettpelz, Alexandre Janer, Hana Antonicka, Eric A Shoubridge

Life Sci Alliance· June 2023

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Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response.
Virginie Petel Légaré, Christian J Rampal, Tyler J N Gurberg, Mari J Aaltonen, Alexandre Janer

Dev Neurobiol· January 2023

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NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Marie Coutelier, Maxime Jacoupy, Alexandre Janer, Flore Renaud, Nicolas Auger

Brain· May 2022

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A High-Density Human Mitochondrial Proximity Interaction Network.
Hana Antonicka, Zhen-Yuan Lin, Alexandre Janer, Mari J Aaltonen, Woranontee Weraarpachai

Cell Metab· September 2020

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Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.
Isabella R Straub, Alexandre Janer, Woranontee Weraarpachai, Lorne Zinman, Janice Robertson

Hum Mol Genet· January 2018

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Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
Mihaela Pupavac, David Watkins, Francis Petrella, Somayyeh Fahiminiya, Alexandre Janer

Hum Mutat· September 2016

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SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
Alexandre Janer, Julien Prudent, Vincent Paupe, Somayyeh Fahiminiya, Jacek Majewski

EMBO Mol Med· September 2016

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RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
Alexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, Hana Antonicka, Malak Al Ghamdi

Eur J Hum Genet· October 2015

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The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, Steven Salomon, Catalina Maftei, Alexandre Janer

Hum Mol Genet· May 2015

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Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.
Alice Chort, Sandro Alves, Martina Marinello, Béatrice Dufresnois, Jean-Gabriel Dornbierer, Alexandre Janer

Brain· June 2013

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Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
Wayne Mah, Justin C Deme, David Watkins, Stephen Fung, Alexandre Janer

Mol Genet Metab· February 2013

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An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Alexandre Janer, Hana Antonicka, Emilie Lalonde, Tamiko Nishimura, Florin Sasarman

Am J Hum Genet· October 2012

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Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
Jessie M Cameron, Alexandre Janer, Valeriy Levandovskiy, Nevena Mackay, Tracey A Rouault

Am J Hum Genet· October 2011

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SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.
Alexandre Janer, Andreas Werner, Junko Takahashi-Fujigasaki, Aurélie Daret, Hiroto Fujigasaki

Hum Mol Genet· January 2010

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PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins.
Alexandre Janer, Elodie Martin, Marie-Paule Muriel, Morwena Latouche, Hiroto Fujigasaki

J Cell Biol· July 2006

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