Choquet K - Search Results

1

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. Thiffault I, et al. Among authors: choquet k. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623. Nat Commun. 2015. PMID: 26151409 Free PMC article.

2

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.

Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Tétreault M, et al. Among authors: choquet k. Am J Hum Genet. 2011 Nov 11;89(5):652-5. doi: 10.1016/j.ajhg.2011.10.006. Epub 2011 Oct 27. Am J Hum Genet. 2011. PMID: 22036172 Free PMC article.

3

Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.

Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL. Choquet K, et al. J Biol Chem. 2019 May 3;294(18):7445-7459. doi: 10.1074/jbc.RA118.006271. Epub 2019 Mar 21. J Biol Chem. 2019. PMID: 30898877 Free PMC article.

4

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. Potic A, et al. Among authors: choquet k. Arch Neurol. 2012 Jul;69(7):920-3. doi: 10.1001/archneurol.2011.1963. Arch Neurol. 2012. PMID: 22451160

5

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.

Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinman CL, Brais B. Choquet K, et al. Mol Brain. 2017 Apr 13;10(1):13. doi: 10.1186/s13041-017-0294-y. Mol Brain. 2017. PMID: 28407788 Free PMC article.

6

The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.

Choquet K, Pinard M, Yang S, Moir RD, Poitras C, Dicaire MJ, Sgarioto N, Larivière R, Kleinman CL, Willis IM, Gauthier MS, Coulombe B, Brais B. Choquet K, et al. Mol Brain. 2019 Jun 20;12(1):59. doi: 10.1186/s13041-019-0479-7. Mol Brain. 2019. PMID: 31221184 Free PMC article.

7

RNA Polymerase III Subunit Mutations in Genetic Diseases.

Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M. Lata E, et al. Among authors: choquet k. Front Mol Biosci. 2021 Jul 30;8:696438. doi: 10.3389/fmolb.2021.696438. eCollection 2021. Front Mol Biosci. 2021. PMID: 34395528 Free PMC article. Review.

8

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.

Choquet K, La Piana R, Brais B. Choquet K, et al. Neurogenetics. 2015 Jul;16(3):233-6. doi: 10.1007/s10048-014-0436-7. Epub 2015 Jan 8. Neurogenetics. 2015. PMID: 25566820

9

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.

Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ; Care4Rare Canada Consortium; Boycott KM, Majewski J, Brais B. Shao YH, et al. Among authors: choquet k. Neurogenetics. 2016 Apr;17(2):137-41. doi: 10.1007/s10048-016-0476-2. Epub 2016 Feb 26. Neurogenetics. 2016. PMID: 26915362

10

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ; Care4Rare Consortium; Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Choquet K, et al. Brain. 2016 Mar;139(Pt 3):e19. doi: 10.1093/brain/awv362. Epub 2015 Dec 10. Brain. 2016. PMID: 26657514 No abstract available.

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