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Icône de Open for Rare

Open for Rare

Logo de l'IRCM affilié à l'UdeM

Unité de recherche en protéomique translationnelle
Directeur : Dr Benoit Coulombe

PUBLICATIONS

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.

Djurdja Djordjevic, Maxime Pinard, Marie-Soleil Gauthier, Constance Smith-Hicks, Trevor L. Hoffman, Nicole I. Wolf, Renske Oegema, Ellen van Binsbergen, Berivan Baskin, Geneviève Bernard, Sébastien Fribourg, Benoit Coulombe, Grace Yoon.

The American Journal of Human Genetics. 2021.

Upstream ORF-encoded ASDURF is a novel prefoldin-like subunit of the PAQosome.

Philippe Cloutier, Christian Poitras, Denis Faubert, Annie Bouchard, Mathieu Blanchette, Marie-Soleil Gauthier, Benoit Coulombe.

J. Proteome Res. 2019.

Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).

Ben Djoudi Ouadda A, Gauthier MS, Susan-Resiga D, Girard E, Essalmani R, Black M, Marcinkiewicz J, Forget D, Hamelin J, Evagelidis A, Ly K, Day R, Galarneau L, Corbin F, Coulombe B, Çaku A, Tagliabracci VS, Seidah NG.

Arterioscler Thromb Vasc Biol. 2019 Oct;39(10):1996-2013.

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 C, Willis IM, Gauthier MS, Coulombe B, Brais B.

Mol Brain. 2019 Jun 20;12(1):59.

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.

J Biol Chem. 2019 Mar 21. pii: jbc.RA118.006271.

Role of the PAQosome in Regulating Arrangement of Protein Quaternary Structure in Health and Disease.

Gauthier MS, Cloutier P, Coulombe B.

Adv Exp Med Biol. 2018;1106:25-36.

How do our cells build their protein interactome?

Coulombe B, Cloutier P, Gauthier MS.

Nat Commun. 2018 Jul 27;9(1):2955.

Posttranslational modification of proprotein convertase subtilisin/kexin type 9 is differentially regulated in response to distinct cardiometabolic treatments as revealed by targeted proteomics.

Gauthier MS, Awan Z, Bouchard A, Champagne J, Tessier S, Faubert D, Chabot K, Garneau PY, Rabasa-Lhoret R, Seidah NG, Ridker PM, Genest J, Coulombe B.

J Clin Lipidol. 2018 Jul - Aug;12(4):1027-1038.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G.

Am J Hum Genet. 2018 Apr 5;102(4):676-684.

The PAQosome, an R2TP-Based Chaperone for Quaternary Structure Formation.

Houry WA, Bertrand E, Coulombe B.
Trends Biochem Sci. 2018 Jan;43(1):4-9.

Functional 5' UTR motif discovery with LESMoN: Local Enrichment of Sequence Motifs in biological Networks.

Lavallée-Adam M, Cloutier P, Coulombe B, Blanchette M.Nucleic Acids Res. 2017 Oct 13;45(18):10415-10427.

R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein.

Cloutier P, Poitras C, Durand M, Hekmat O, Fiola-Masson É, Bouchard A, Faubert D, Chabot B, Coulombe B.
Nat Commun. 2017 May 31;8:15615.

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.

Mol Brain. 2017 Apr 13;10(1):13.

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.
Nat Commun. 2015 Jul 7;6:7623.

Introduction for the Special Issue of METHODS on Detection and quantification of proteins in clinical samples by mass spectrometry.

Coulombe B, Gauthier MS.

Methods. 2015 Jun 15;81:1-2.

Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies.

Guglielmi V, Marini M, Masson ÉF, Malatesta M, Forget D, Tomelleri G, Coulombe B, Vattemi G.

Histopathology. 2015 Dec;67(6):859-65.

A semi-automated mass spectrometric immunoassay coupled to selected reaction monitoring (MSIA-SRM) reveals novel relationships between circulating PCSK9 and metabolic phenotypes in patient cohorts.

Gauthier MS, Pérusse JR, Awan Z, Bouchard A, Tessier S, Champagne J, Krastins B, Byram G, Chabot K, Garneau P, Rabasa-Lhoret R, Faubert D, Lopez MF, Seidah NG, Coulombe B.

Methods. 2015 Jun 15;81:66-73.

Publications
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