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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
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. Siekierska A, et al. Among authors: mullen p. Nat Commun. 2019 Feb 12;10(1):708. doi: 10.1038/s41467-018-07953-w. Nat Commun. 2019. PMID: 30755616 Free PMC article.
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
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. Galatolo D, et al. Among authors: mullen p. Hum Mutat. 2020 Jul;41(7):1232-1237. doi: 10.1002/humu.24024. Epub 2020 Apr 29. Hum Mutat. 2020. PMID: 32333447 Free PMC article.
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
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. Royer-Bertrand B, et al. Among authors: mullen p. Ann Clin Transl Neurol. 2019 May 24;6(6):1072-1080. doi: 10.1002/acn3.791. eCollection 2019 Jun. Ann Clin Transl Neurol. 2019. PMID: 31211171 Free PMC article.
Extracellular Matrix Remodeling Regulates Glucose Metabolism through TXNIP Destabilization.
Sullivan WJ, Mullen PJ, Schmid EW, Flores A, Momcilovic M, Sharpley MS, Jelinek D, Whiteley AE, Maxwell MB, Wilde BR, Banerjee U, Coller HA, Shackelford DB, Braas D, Ayer DE, de Aguiar Vallim TQ, Lowry WE, Christofk HR. Sullivan WJ, et al. Cell. 2018 Sep 20;175(1):117-132.e21. doi: 10.1016/j.cell.2018.08.017. Epub 2018 Sep 6. Cell. 2018. PMID: 30197082 Free PMC article.
Asparagine couples mitochondrial respiration to ATF4 activity and tumor growth.
Krall AS, Mullen PJ, Surjono F, Momcilovic M, Schmid EW, Halbrook CJ, Thambundit A, Mittelman SD, Lyssiotis CA, Shackelford DB, Knott SRV, Christofk HR. Krall AS, et al. Cell Metab. 2021 May 4;33(5):1013-1026.e6. doi: 10.1016/j.cmet.2021.02.001. Epub 2021 Feb 19. Cell Metab. 2021. PMID: 33609439 Free PMC article.
Largen: a molecular regulator of mammalian cell size control.
Yamamoto K, Gandin V, Sasaki M, McCracken S, Li W, Silvester JL, Elia AJ, Wang F, Wakutani Y, Alexandrova R, Oo YD, Mullen PJ, Inoue S, Itsumi M, Lapin V, Haight J, Wakeham A, Shahinian A, Ikura M, Topisirovic I, Sonenberg N, Mak TW. Yamamoto K, et al. Mol Cell. 2014 Mar 20;53(6):904-15. doi: 10.1016/j.molcel.2014.02.028. Mol Cell. 2014. PMID: 24656129 Free article.
737 results