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Evidence for a dominant- negative mechanism in HARS1- mediated peripheral neuropathy
dc.contributor.authorMeyer‐schuman, Rebecca
dc.contributor.authorAntonellis, Anthony
dc.date.accessioned2021-01-05T18:46:26Z
dc.date.availableWITHHELD_13_MONTHS
dc.date.available2021-01-05T18:46:26Z
dc.date.issued2021-01
dc.identifier.citationMeyer‐schuman, Rebecca ; Antonellis, Anthony (2021). "Evidence for a dominant- negative mechanism in HARS1- mediated peripheral neuropathy." The FEBS Journal (1): 91-94.
dc.identifier.issn1742-464X
dc.identifier.issn1742-4658
dc.identifier.urihttps://hdl.handle.net/2027.42/163867
dc.publisherWiley Periodicals, Inc.
dc.subject.otherHARS1
dc.subject.otherprotein translation
dc.subject.otherperipheral neuropathy
dc.subject.otherdominant- negative
dc.subject.otheraminoacyl- tRNA synthetase
dc.titleEvidence for a dominant- negative mechanism in HARS1- mediated peripheral neuropathy
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biology
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/163867/1/febs15538_am.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/163867/2/febs15538.pdf
dc.identifier.doi10.1111/febs.15538
dc.identifier.sourceThe FEBS Journal
dc.identifier.citedreferenceMeyer- Schuman R & Antonellis A ( 2017 ) emerging mechanisms of aminoacyl- TRNA synthetase mutations in recessive and dominant human disease. Human molecular genetics 26, R114 - R127.
dc.identifier.citedreferenceAntonellis A & Green ED ( 2008 ) The role of aminoacyl- TRNA synthetases in genetic diseases. Ann Rev Gen Human Genet 9, 87 - 107.
dc.identifier.citedreferenceBond S, Lopez- Lloreda C, Gannon PJ, Akay- Espinoza C & Jordan- Sciutto KL ( 2020 ) The integrated stress response and phosphorylated eukaryotic initiation factor 2α in neurodegeneration. J Neuropath Exp Neurol 79, 123 - 143.
dc.identifier.citedreferenceVester A, Velez Ruiz G, McLaughlin HM, Lupski JR, Talbot K, Vance JM, Züchner S, Roda RH, Fischbeck KH, Biesecker LG, Nicholson G, Beg AA & Antonellis A ( 2013 ) A loss- of- function variant in the human histidyl- TRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mut 34, 191 - 199.
dc.identifier.citedreferenceAbbott 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 ( 2018 ) Substrate interaction defects in histidyl- TRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat 39, 415 - 432.
dc.identifier.citedreferenceMullen P, Abbott JA, Wellman T, Aktar M, Fjeld C, Demeler B, Ebert AM & Francklyn CS ( 2020 ) Neuropathy- associated histidyl- TRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish. FEBS J. https://doi.org/10.1111/febs.15449.
dc.identifier.citedreferenceWei N, Zhang Q & Yang X- L ( 2019 ) Neurodegenerative Charcot- Marie- Tooth disease as a case study to decipher novel functions of aminoacyl- TRNA synthetases. J Biol Chem 294, 5321 - 5339.
dc.identifier.citedreferenceKuo ME & Antonellis A ( 2020 ) Ubiquitously expressed proteins and restricted phenotypes: exploring cell- specific sensitivities to impaired TRNA charging. Trends Genet 36, 105 - 117.
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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