Janer A - Search Results

1

ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.

Janer A, Morris JL, Krols M, Antonicka H, Aaltonen MJ, Lin ZY, Anand H, Gingras AC, Prudent J, Shoubridge EA. Janer A, et al. Life Sci Alliance. 2023 Nov 6;7(1):e202302335. doi: 10.26508/lsa.202302335. Print 2024 Jan. Life Sci Alliance. 2023. PMID: 37931956 Free PMC article.

2

The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.

Schuettpelz J, Janer A, Antonicka H, Shoubridge EA. Schuettpelz J, et al. Among authors: janer a. Life Sci Alliance. 2023 Mar 28;6(6):e202301914. doi: 10.26508/lsa.202301914. Print 2023 Jun. Life Sci Alliance. 2023. PMID: 36977595 Free PMC article.

3

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, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA. Janer A, et al. EMBO Mol Med. 2016 Sep 1;8(9):1019-38. doi: 10.15252/emmm.201506159. Print 2016 Sep. EMBO Mol Med. 2016. PMID: 27390132 Free PMC article.

4

A High-Density Human Mitochondrial Proximity Interaction Network.

Antonicka H, Lin ZY, Janer A, Aaltonen MJ, Weraarpachai W, Gingras AC, Shoubridge EA. Antonicka H, et al. Among authors: janer a. Cell Metab. 2020 Sep 1;32(3):479-497.e9. doi: 10.1016/j.cmet.2020.07.017. Cell Metab. 2020. PMID: 32877691 Free article.

5

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 Légaré V, Rampal CJ, Gurberg TJN, Aaltonen MJ, Janer A, Zinman L, Shoubridge EA, Armstrong GAB. Petel Légaré V, et al. Among authors: janer a. Dev Neurobiol. 2023 Jan;83(1-2):54-69. doi: 10.1002/dneu.22909. Epub 2023 Mar 2. Dev Neurobiol. 2023. PMID: 36799027

6

BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.

Zhong H, Janer A, Khalimonchuk O, Antonicka H, Shoubridge EA, Barrientos A. Zhong H, et al. Among authors: janer a. Nucleic Acids Res. 2023 Nov 27;51(21):11797-11812. doi: 10.1093/nar/gkad842. Nucleic Acids Res. 2023. PMID: 37823603 Free PMC article.

7

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA. Janer A, et al. Am J Hum Genet. 2012 Oct 5;91(4):737-43. doi: 10.1016/j.ajhg.2012.08.020. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022098 Free PMC article.

8

Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.

Mah W, Deme JC, Watkins D, Fung S, Janer A, Shoubridge EA, Rosenblatt DS, Coulton JW. Mah W, et al. Among authors: janer a. Mol Genet Metab. 2013 Feb;108(2):112-8. doi: 10.1016/j.ymgme.2012.11.284. Epub 2012 Dec 7. Mol Genet Metab. 2013. PMID: 23270877

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, Gingras AC, Pastinen T, Muenzer J, Majewski J, Shoubridge EA, Rosenblatt DS. Pupavac M, et al. Among authors: janer a. Hum Mutat. 2016 Sep;37(9):976-82. doi: 10.1002/humu.23037. Epub 2016 Jul 12. Hum Mutat. 2016. PMID: 27349184

10

Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

Straub IR, Janer A, Weraarpachai W, Zinman L, Robertson J, Rogaeva E, Shoubridge EA. Straub IR, et al. Among authors: janer a. Hum Mol Genet. 2018 Jan 1;27(1):178-189. doi: 10.1093/hmg/ddx393. Hum Mol Genet. 2018. PMID: 29121267 Free PMC article.

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