Janer A - Search Results

1

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH. Cameron JM, et al. Among authors: janer a. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: 10.1016/j.ajhg.2011.08.011. Epub 2011 Sep 22. Am J Hum Genet. 2011. PMID: 21944046 Free PMC article.

2

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.

3

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

4

RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

Janer A, van Karnebeek CD, Sasarman F, Antonicka H, Al Ghamdi M, Shyr C, Dunbar M, Stockler-Ispiroglu S, Ross CJ, Vallance H, Dionne J, Wasserman WW, Shoubridge EA. Janer A, et al. Eur J Hum Genet. 2015 Oct;23(10):1301-7. doi: 10.1038/ejhg.2014.293. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604853 Free PMC article.

5

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, Ellazam B, Webb N, Antonicka H, Janer A, Brunel-Guitton C, Elpeleg O, Mitchell G, Shoubridge EA. Sasarman F, et al. Among authors: janer a. Hum Mol Genet. 2015 May 15;24(10):2841-7. doi: 10.1093/hmg/ddv044. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652405 Free PMC article.

6

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

7

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.

8

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.

9

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.

10

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.

Coutelier M, Jacoupy M, Janer A, Renaud F, Auger N, Saripella GV, Ancien F, Pucci F, Rooman M, Gilis D, Larivière R, Sgarioto N, Valter R, Guillot-Noel L, Le Ber I, Sayah S, Charles P, Nümann A, Pauly MG, Helmchen C, Deininger N, Haack TB, Brais B, Brice A, Trégouët DA, El Hachimi KH, Shoubridge EA, Durr A, Stevanin G. Coutelier M, et al. Among authors: janer a. Brain. 2022 May 24;145(4):1519-1534. doi: 10.1093/brain/awab407. Brain. 2022. PMID: 34788392

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