Harvard Catalyst Profiles

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Karine Choquet, Ph.D.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M. RNA Polymerase III Subunit Mutations in Genetic Diseases. Front Mol Biosci. 2021; 8:696438. PMID: 34395528.
    Citations: 7     
  2. Drexler HL, Choquet K, Merens HE, Tang PS, Simpson JT, Churchman LS. Revealing nascent RNA processing dynamics with nano-COP. Nat Protoc. 2021 03; 16(3):1343-1375. PMID: 33514943; PMCID: PMC8713461.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  3. 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, Rouleau G, Suchowersky O, Boycott KM, Yoon G. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Mov Disord Clin Pract. 2020 Nov; 7(8):940-949. PMID: 33163565; PMCID: PMC7604675.
    Citations: 3     
  4. Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O'Ferrall EK, Tétreault M, Karamchandani J. A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing. Can J Neurol Sci. 2021 03; 48(2):293-296. PMID: 32646536.
    Citations: 1     Fields:    Translation:Humans
  5. Drexler HL, Choquet K, Churchman LS. Splicing Kinetics and Coordination Revealed by Direct Nascent RNA Sequencing through Nanopores. Mol Cell. 2020 03 05; 77(5):985-998.e8. PMID: 31839405.
    Citations: 47     Fields:    Translation:HumansAnimalsCells
  6. 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. The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Mol Brain. 2019 06 20; 12(1):59. PMID: 31221184.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  7. Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL. Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200. J Biol Chem. 2019 05 03; 294(18):7445-7459. PMID: 30898877.
    Citations: 15     Fields:    Translation:HumansCells
  8. Larivière R, Sgarioto N, Márquez BT, Gaudet R, Choquet K, McKinney RA, Watt AJ, Brais B. Sacs R272C missense homozygous mice develop an ataxia phenotype. Mol Brain. 2019 03 12; 12(1):19. PMID: 30866998; PMCID: PMC6416858.
    Citations: 9     Fields:    Translation:HumansAnimalsCells
  9. Calabretta S, Vogel G, Yu Z, Choquet K, Darbelli L, Nicholson TB, Kleinman CL, Richard S. Loss of PRMT5 Promotes PDGFRa Degradation during Oligodendrocyte Differentiation and Myelination. Dev Cell. 2018 08 20; 46(4):426-440.e5. PMID: 30057274.
    Citations: 15     Fields:    Translation:AnimalsCells
  10. Darbelli L, Choquet K, Richard S, Kleinman CL. Transcriptome profiling of mouse brains with qkI-deficient oligodendrocytes reveals major alternative splicing defects including self-splicing. Sci Rep. 2017 08 08; 7(1):7554. PMID: 28790308.
    Citations: 9     Fields:    Translation:AnimalsCells
  11. 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. Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. Mol Brain. 2017 04 13; 10(1):13. PMID: 28407788.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  12. Antonicka H, Choquet K, Lin ZY, Gingras AC, Kleinman CL, Shoubridge EA. A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. EMBO Rep. 2017 01; 18(1):28-38. PMID: 27974379.
    Citations: 46     Fields:    Translation:HumansCells
  13. Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain. 2017 01; 140(1):37-48. PMID: 27816943; PMCID: PMC5226058.
    Citations: 6     Fields:    Translation:HumansCells
  14. Binan L, Mazzaferri J, Choquet K, Lorenzo LE, Wang YC, Affar EB, De Koninck Y, Ragoussis J, Kleinman CL, Costantino S. Live single-cell laser tag. Nat Commun. 2016 05 20; 7:11636. PMID: 27198043.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  15. Shao YH, Choquet K, La Piana R, Tétreault M, Dicaire MJ, Boycott KM, Majewski J, Brais B. Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics. 2016 Apr; 17(2):137-41. PMID: 26915362.
    Citations: 7     Fields:    Translation:Humans
  16. Choquet K, Zurita-Rendón O, La Piana R, Yang S, Dicaire MJ, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain. 2016 Mar; 139(Pt 3):e19. PMID: 26657514.
    Citations: 9     Fields:    Translation:HumansCells
  17. Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Boycott KM, Majewski J, Brais B. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. Eur J Hum Genet. 2016 07; 24(7):1016-21. PMID: 26626314; PMCID: PMC5070891.
    Citations: 18     Fields:    Translation:Humans
  18. 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, Coulombe B, Bernard G. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 07; 6:7623. PMID: 26151409.
    Citations: 63     Fields:    Translation:Humans
  19. O'Brien SF, Osmond L, Choquet K, Yi QL, Goldman M. Donor attention to reading materials. Vox Sang. 2015 Nov; 109(4):336-42. PMID: 25976025.
    Citations: 1     Fields:    Translation:Humans
  20. Choquet K, La Piana R, Brais B. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics. 2015 Jul; 16(3):233-6. PMID: 25566820.
    Citations: 20     Fields:    Translation:Humans
  21. O'Brien SF, Uzicanin S, Choquet K, Yi QL, Fan W, Goldman M. Impact of changes to policy for Mexican risk travel on Canadian blood donor deferrals. Blood Transfus. 2013 Oct; 11(4):580-4. PMID: 23736916.
    Citations: 4     Fields:    Translation:Humans
  22. Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol. 2012 Jul; 69(7):920-3. PMID: 22451160.
    Citations: 26     Fields:    Translation:Humans
  23. Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11; 89(5):652-5. PMID: 22036172.
    Citations: 72     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.