Browsing Demeler, Borries by Author "Abbott, Jamie A."

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  • Mullen, Patrick; Abbott, Jamie A.; Wellman, Theresa; Aktar, Mahafuza; Fjeld, Christian; Demeler, Borries; Ebert, Alicia M.; Francklyn, Christopher S. (WileyArts and ScienceDepartment of Chemistry and BiochemistryUniversity of VermontUniversity of Lethbridgehttps://doi.org/10.1111/febs.15449, 2021)
    Charcot-Marie-Tooth disease (CMT) encompasses a set of genetically and clinically heterogeneous neuropathies characterized by length dependent dysfunction of the peripheral nervous system. Mutations in over 80 diverse genes ...
  • Abbott, Jamie A.; Meyer-Schuman, Rebecca; Lupo, Vicenzo; Feeley, Shawna; Mademan, Ines; Oprescu, Stephanie N.; Griffin, Laurie B.; Alberti, M. Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel-Vanagaite, Lina; Zuchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E.; Espinos, Carmen; Demeler, Borries; Antonellis, Anthony; Francklyn, Christopher (WileyArts and ScienceDepartment of Chemistry and BiochemistryUniversity of VermontUniversity of Michigan Medical SchoolCentro de Investigacion Principe Felipe (CIPF)University of Iowa Hospitals and ClinicsCenter for Molecular NeurologyInstitute Born-BungeHospital Universitario de BellvitgeTel Aviv UniversitySchneider Children's Medical Center of IsraelRabin Medical CenterUniversity of Miami Miller School of MedicineAntwerp University HospitalUniversity of Texas Health Science Center at San AntonioUniversity of Lethbridgehttps://doi.org/10.1002/humu.23380, 2018)
    Histidyl-tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant axonal peripheral neuropathy Charcot-Marie-Tooth disease type 2W ...