A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

Autor: Rebecca Meyer-Schuman, Allison R. Cale, Jennifer A. Pierluissi, Kira E. Jonatzke, Young N. Park, Guy M. Lenk, Stephanie N. Oprescu, Marina A. Grachtchouk, Andrzej A. Dlugosz, Asim A. Beg, Miriam H. Meisler, Anthony Antonellis

Publikováno v: HGG Advances, Vol 5, Iss 3, Pp 100324- (2024)

Summary: Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that complete the first step of protein translation: ligation of amino acids to cognate tRNAs. Genes encoding ARSs have been implicated in myriad dominant and re

Externí odkaz: https://doaj.org/article/74fe00848b15473285079ab25600691e

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations

Autor: Rebecca Meyer-Schuman, Sheila Marte, Tyler J. Smith, Shawna M.E. Feely, Marina Kennerson, Garth Nicholson, Mike E. Shy, Kristin S. Koutmou, Anthony Antonellis

Publikováno v: Human Molecular Genetics.

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that ligate tRNA molecules to their cognate amino acids. Heterozygosity for missense variants or small in-frame deletions in five ARS genes causes axonal peripheral neuro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5c6c8f57e067217c5125f5667dc5ac0
https://doi.org/10.1093/hmg/ddad054

Fair Play in Science Education: Equal Opportunities for Minority Students

Autor: Monhardt, Rebecca Meyer

Publikováno v: The Clearing House, 2000 Sep 01. 74(1), 18-22.

Externí odkaz: https://www.jstor.org/stable/30189625

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models

Autor: Kathryn H. Morelli, Laurie B. Griffin, Allison M. Fowler, Timothy J. Hines, James R. Lupski, Lindsay M. Wallace, Samuel G. Kocen, Scott Q. Harper, Jacob O. Kitzman, Ryuichi Takase, Stephanie N. Oprescu, Alexey I. Nesvizhskii, Rebecca Meyer-Schuman, Nettie K. Pyne, Pedro Mancias, Robert W. Burgess, Dattatreya Mellacheruvu, Ya-Ming Hou, Emily Spaulding, Anthony Antonellis, Na Wei, Xiang-Lei Yang, Ian J. Butler

Publikováno v: Journal of Clinical Investigation. 129:5568-5583

Gene therapy approaches are being deployed to treat recessive genetic disorders by restoring the expression of mutated genes. However, the feasibility of these approaches for dominantly inherited diseases — where treatment may require reduction in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47340716197869229515fe1bdeb401dc
https://doi.org/10.1172/jci130600

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Autor: Grazia M.S. Mancini, Wim Vermeulen, Rebecca Meyer-Schuman, Marjon van Slegtenhorst, Marisa I. Mendes, Catherine Groden, Shino Shimada, Thomas Christian, Anja Raams, Desirée E.C. Smith, Ya-Ming Hou, L.M. Hussaarts-Odijk, Gajja S. Salomons, May Christine V. Malicdan, Martina Wilke, Molly E. Kuo, Eric van der Meijden, Anthony Antonellis, Arjan F. Theil, William A. Gahl, Frans W. Verheijen, Anneke Kievit, Wendy J. Introne

Publikováno v: Kuo, M E, Theil, A F, Kievit, A, Malicdan, M C, Introne, W J, Christian, T, Verheijen, F W, Smith, D E C, Mendes, M I, Hussaarts-Odijk, L, van der Meijden, E, van Slegtenhorst, M, Wilke, M, Vermeulen, W, Raams, A, Groden, C, Shimada, S, Meyer-Schuman, R, Hou, Y M, Gahl, W A, Antonellis, A, Salomons, G S & Mancini, G M S 2019, ' Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails ', American journal of human genetics, vol. 104, no. 3, pp. 520-529 . https://doi.org/10.1016/j.ajhg.2019.01.006
American journal of human genetics, 104(3), 520-529. Cell Press
American Journal of Human Genetics, 104(3), 520-529. Cell Press

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes responsible for charging tRNA molecules with cognate amino acids. Consistent with the essential function and ubiquitous expression of ARSs, mutations in 32 of the 37 ARS-encoding loci cause seve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2d8d271dba76b194308ad16b8fa219
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062280875&origin=inward