Author

Alexandre Janer

McGill UniversityORCID 0000-0001-7421-3373Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell signaling & trafficking· 1 Research Focus:cell type annotation· 1 Research Focus:metabolism & bioenergetics· 1 Approach:statistical model· 1

Frequent Co-Authors

Eric A. ShoubridgeiD· 3 shared Hana AntonickáiD· 2 shared André MégarbanéiD· 1 shared Bernard BraisiD· 1 shared Christian J. Rampal· 1 shared Erin O’FerralliD· 1 shared Gabrielle MacaroniD· 1 shared Gary A.B. ArmstrongiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Eric A. ShoubridgeORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 17, 2025

AMPD2 deficiency causes variable-onset Leigh syndrome and implicates cytosolic purine balance in the structural preservation of respiratory complex V

Justin Simo, Alexandre Janer, Hana Antonická…·Roberta La Piana

This paper identifies bi-allelic AMPD2 variants as a cause of Leigh syndrome, showing they lead to complex V assembly defects and cytosolic purine imbalance.

DOI 10.1101/2025.09.17.25335877

humanwhole-genome sequencing

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Cell BiologybioRxivPreprintApr 1, 2024

SLC25A46 is in contact with lysosomes and plays a role in mitochondrial cholesterol homeostasis

Jana Schuettpelz, Kathleen Watt, Hana Antonická…·Eric A. Shoubridge

This study shows SLC25A46 is required for stress-induced mitochondrial hyperfusion and involved in mitochondrial cholesterol homeostasis.

3 citations

humanbulk RNA-seq

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Developmental BiologybioRxivPreprintMay 2, 2022

Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mt-ISR

Virginie Petel Légaré, Christian J. Rampal, Mari J. Aaltonen…·Gary A.B. Armstrong

This study shows that loss of Chchd10 or Chchd2 in zebrafish causes ALS-like symptoms and Complex I deficiency, with double KO showing more severe effects and mt-ISR activation.

1 citation

zebrafishexperimental assay

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