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Alexandre Janer

Explore the profile of Alexandre Janer including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 17
Citations 630
Followers 0
Related Specialties
Genetics
Molecular Biology
Cell Biology
Top 10 Co-Authors
Eric A Shoubridge
Hana Antonicka
Alexis Brice
Anne-Claude Gingras
Jacek Majewski
Zhen-Yuan Lin
Annie Sittler
Mari J Aaltonen
Florin Sasarman
Woranontee Weraarpachai
Published In
Hum Mol Genet
Brain
Life Sci Alliance
Am J Hum Genet
J Cell Biol
Affiliations
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Recent Articles
1.
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis
Janer A, Morris J, Krols M, Antonicka H, Aaltonen M, Lin Z, et al.
Life Sci Alliance . 2023 Nov; 7(1). PMID: 37931956
Mitochondria interact with the ER at structurally and functionally specialized membrane contact sites known as mitochondria-ER contact sites (MERCs). Combining proximity labelling (BioID), co-immunoprecipitation, confocal microscopy and subcellular fractionation, we...
2.
BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome
Zhong H, Janer A, Khalimonchuk O, Antonicka H, Shoubridge E, Barrientos A
Nucleic Acids Res . 2023 Oct; 51(21):11797-11812. PMID: 37823603
The human mitochondrial ribosome contains three [2Fe-2S] clusters whose assembly pathway, role, and implications for mitochondrial and metabolic diseases are unknown. Here, structure-function correlation studies show that the clusters play...
3.
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion
Schuettpelz J, Janer A, Antonicka H, Shoubridge E
Life Sci Alliance . 2023 Mar; 6(6). PMID: 36977595
Mutations in underlie a wide spectrum of neurodegenerative diseases associated with alterations in mitochondrial morphology. We established an SLC25A46 knock-out cell line in human fibroblasts and studied the pathogenicity of...
4.
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
Petel Legare V, Rampal C, Gurberg T, Aaltonen M, Janer A, Zinman L, et al.
Dev Neurobiol . 2023 Feb; 83(1-2):54-69. PMID: 36799027
Mutations in CHCHD10 and CHCHD2, encoding two paralogous mitochondrial proteins, have been identified in cases of amyotrophic lateral sclerosis, frontotemporal lobar degeneration, and Parkinson's disease. Their role in disease is...
5.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia
Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella G, et al.
Brain . 2021 Nov; 145(4):1519-1534. PMID: 34788392
With more than 40 causative genes identified so far, autosomal dominant cerebellar ataxias exhibit a remarkable genetic heterogeneity. Yet, half the patients are lacking a molecular diagnosis. In a large...
6.
A High-Density Human Mitochondrial Proximity Interaction Network
Antonicka H, Lin Z, Janer A, Aaltonen M, Weraarpachai W, Gingras A, et al.
Cell Metab . 2020 Sep; 32(3):479-497.e9. PMID: 32877691
We used BioID, a proximity-dependent biotinylation assay with 100 mitochondrial baits from all mitochondrial sub-compartments, to create a high-resolution human mitochondrial proximity interaction network. We identified 1,465 proteins, producing 15,626...
7.
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS
Straub I, Janer A, Weraarpachai W, Zinman L, Robertson J, Rogaeva E, et al.
Hum Mol Genet . 2017 Nov; 27(1):178-189. PMID: 29121267
Coiled-helix coiled-helix domain containing protein 10 (CHCHD10) and its paralogue CHCHD2 belong to a family of twin CX9C motif proteins, most of which localize to the intermembrane space of mitochondria....
8.
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome
Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, et al.
EMBO Mol Med . 2016 Jul; 8(9):1019-38. PMID: 27390132
Mitochondria form a dynamic network that responds to physiological signals and metabolic stresses by altering the balance between fusion and fission. Mitochondrial fusion is orchestrated by conserved GTPases MFN1/2 and...
9.
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator
Pupavac M, Watkins D, Petrella F, Fahiminiya S, Janer A, Cheung W, et al.
Hum Mutat . 2016 Jun; 37(9):976-82. PMID: 27349184
Vitamin B12 (cobalamin, Cbl) cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) are required for the activity of the enzymes methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Inborn errors of Cbl metabolism...
10.
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J, et al.
Hum Mol Genet . 2015 Feb; 24(10):2841-7. PMID: 25652405
Addition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3' end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions...