Publications 

 

Selected Recent Publications

 

  1. Mullen P, Abbott JA, Wellman T, Aktar M, Fjeld C, Demeler B, Ebert AM, Francklyn CS. Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish. FEBS J. 2021 Jan;288(1):142-159.

     

  2. Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020 Aug 6;107(2):311-324.

     

  3. Galatolo D, Kuo ME, Mullen P, Meyer-Schuman R, Doccini S, Battini R, Lieto M, Tessa A, Filla A, Francklyn C, Antonellis A, Santorelli FM. Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. Hum Mutat. 2020 Jul;41(7):1232-1237.

     

     

  4. Scott TA, Batey SFD, Wiencek P, Chandra G, Alt S, Francklyn CS, Wilkinson B.ACS Chem Biol. 2019 Immunity-Guided Identification of Threonyl-tRNA Synthetase as the Molecular Target of Obafluorin, a β-Lactone Antibiotic. Dec 20;14(12):2663-2671. doi: 10.1021/acschembio.9b00590. Epub 2019 Nov 14.PMID: 31675206.

     

  5. Royer-Bertrand B, Tsouni P, Mullen P, Campos Xavier B, Mittaz Crettol L, Lobrinus AJ, Ghika J, Baumgartner MR, Rivolta C, Superti-Furga A, Kuntzer T, Francklyn C, Tran C. Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant. Ann Clin Transl Neurol. 2019 May 24;6(6):1072-1080.

     

     

  6. Waldron A, Wilcox C, Francklyn C, Ebert A. Knock-Down of Histidyl-tRNA Synthetase Causes Cell Cycle Arrest and Apoptosis of Neuronal Progenitor Cells in vivo. Front Cell Dev Biol. 2019 Apr 26;7:67.

     

  7. Francklyn CS, Mullen P. Progress and challenges in aminoacyl-tRNA synthetase-based therapeutics. J Biol Chem. 2019 Apr 5;294(14):5365-5385. doi: 10.1074/jbc.REV118.002956. Epub 2019 Jan 22.

     

  8. Siekierska A, Stamberger H, Deconinck T, Oprescu SN, Partoens M, Zhang Y, Sourbron J, Adriaenssens E, Mullen P, Wiencek P, Hardies K, Lee JS, Giong HK, Distelmaier F, Elpeleg O, Helbig KL, Hersh J, Isikay S, Jordan E, Karaca E, Kecskes A, Lupski JR, Kovacs-Nagy R, May P, Narayanan V, Pendziwiat M, Ramsey K, Rangasamy S, Shinde DN, Spiegel R, Timmerman V, von Spiczak S, Helbig I; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen S, Francklyn C, Antonellis A, de Witte P, De Jonghe P. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun. 2019 Feb 12;10(1):708.

     

     

  9. Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat. 2018 Mar;39(3):415-432.

     

  10. Abbott JA, Guth E, Kim C, Regan C, Siu VM, Rupar CA, Demeler B, Francklyn CS, Robey-Bond SM. The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity .Biochemistry. 2017 Jul 18;56(28):3619-3631.

     

     

  11. Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. Epub 2012 Jan 17. PMID: 22279524. 

All Publications

 

Dr. Christopher Francklyn