Karine Choquet

Publications

Articles

• Choquet K, Chaumont LP, Bache S, Baxter-Koenigs AR, Churchman LS. (2025). Genetic regulation of nascent RNA maturation revealed by direct RNA nanopore sequencing. Genome research. DOI
• Choquet K, Patop IL, Churchman LS. (2025). The regulation and function of post-transcriptional RNA splicing. Nature reviews. Genetics. DOI
• Song Z, Bae B, Schnabl S, Yuan F, De Zoysa T, Akinyi MV, Le Roux CA, Choquet K, Whipple AJ, Van Nostrand EL. (2025). Mapping snoRNA-target RNA interactions in an RNA-binding protein-dependent manner with chimeric eCLIP. Genome biology. DOI
• Ietswaart R, Smalec BM, Xu A, Choquet K, McShane E, Jowhar ZM, Guegler CK, Baxter-Koenigs AR, West ER, Fu BXH, Gilbert L, Floor SN, Churchman LS. (2024). Genome-wide quantification of RNA flow across subcellular compartments reveals determinants of the mammalian transcript life cycle. Molecular cell. DOI
• Merens HE, Choquet K, Baxter-Koenigs AR, Churchman LS. (2024). Timing is everything: advances in quantifying splicing kinetics. Trends in cell biology. DOI
• McShane E, Couvillion M, Ietswaart R, Prakash G, Smalec BM, Soto I, Baxter-Koenigs AR, Choquet K, Churchman LS. (2024). A kinetic dichotomy between mitochondrial and nuclear gene expression processes. Molecular cell. DOI
• Kramer NJ, Prakash G, Isaac RS, Choquet K, Soto I, Petrova B, Merens HE, Kanarek N, Churchman LS. (2023). Regulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression. Nature cell biology. DOI
• Martell DJ, Merens HE, Caulier A, Fiorini C, Ulirsch JC, Ietswaart R, Choquet K, Graziadei G, Brancaleoni V, Cappellini MD, Scott C, Roberts N, Churchman LS. (2023). RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation. Developmental cell. DOI
• Choquet K, Baxter-Koenigs AR, Dülk SL, Smalec BM, Rouskin S, Churchman LS. (2023). Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts. Nature structural & molecular biology. DOI
• Bergeron D, Faucher-Giguère L, Emmerichs AK, Choquet K, Song KS, Deschamps-Francoeur G, Fafard-Couture É, Rivera A, Couture S, Churchman LS, Heyd F, Scott MS. (2023). Intronic small nucleolar RNAs regulate host gene splicing through base pairing with their adjacent intronic sequences. Genome biology. DOI
• Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Brais B. (2022). Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine. DOI
• Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M. (2021). RNA Polymerase III Subunit Mutations in Genetic Diseases. Frontiers in molecular biosciences. DOI
• Drexler HL, Choquet K, Merens HE, Tang PS, Simpson JT, Churchman LS. (2021). Revealing nascent RNA processing dynamics with nano-COP. Nature protocols. DOI
• Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Yoon G. (2020). Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement disorders clinical practice. DOI
• Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J. (2020). A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. DOI
• Drexler HL, Choquet K, Churchman LS. (2019). Splicing Kinetics and Coordination Revealed by Direct Nascent RNA Sequencing through Nanopores. Molecular cell. DOI
• 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. (2019). The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Molecular brain. DOI
• Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL. (2019). Leukodystrophy-associated <i>POLR3A</i> mutations down-regulate the RNA polymerase III transcript and important regulatory RNA <i>BC200</i>. The Journal of biological chemistry. DOI
• Larivière R, Sgarioto N, Márquez BT, Gaudet R, Choquet K, McKinney RA, Watt AJ, Brais B. (2019). Sacs R272C missense homozygous mice develop an ataxia phenotype. Molecular brain. DOI
• Calabretta S, Vogel G, Yu Z, Choquet K, Darbelli L, Nicholson TB, Kleinman CL, Richard S. (2018). Loss of PRMT5 Promotes PDGFRα Degradation during Oligodendrocyte Differentiation and Myelination. Developmental cell. DOI
• Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M, RADIAL Working Group. (2017). A recessive ataxia diagnosis algorithm for the next generation sequencing era. Annals of neurology. DOI
• Darbelli L, Choquet K, Richard S, Kleinman CL. (2017). Transcriptome profiling of mouse brains with qkI-deficient oligodendrocytes reveals major alternative splicing defects including self-splicing. Scientific reports. DOI
• 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, Brais B. (2017). Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. Molecular brain. DOI
• Antonicka H, Choquet K, Lin ZY, Gingras AC, Kleinman CL, Shoubridge EA. (2016). A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. EMBO reports. DOI
• Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Tétreault M. (2016). Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain : a journal of neurology. DOI
• Binan L, Mazzaferri J, Choquet K, Lorenzo LE, Wang YC, Affar EB, De Koninck Y, Ragoussis J, Kleinman CL, Costantino S. (2016). Live single-cell laser tag. Nature communications. DOI
• Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ, Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B. (2016). Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics. DOI
• Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ, Care4Rare Consortium, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. (2015). Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain : a journal of neurology. DOI
• Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Care4Rare Canada Consortium, Brais B. (2015). SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. European journal of human genetics : EJHG. DOI
• 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, Bernard G. (2015). Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature communications. DOI
• O'Brien SF, Osmond L, Choquet K, Yi QL, Goldman M. (2015). Donor attention to reading materials. Vox sanguinis. DOI
• Choquet K, La Piana R, Brais B. (2015). A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics. DOI
• O'Brien SF, Uzicanin S, Choquet K, Yi QL, Fan W, Goldman M. (2013). Impact of changes to policy for Mexican risk travel on Canadian blood donor deferrals. Blood transfusion = Trasfusione del sangue. DOI
• Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. (2012). 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Archives of neurology. DOI
• Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. (2011). Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. American journal of human genetics. DOI