Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rebekah Barrick"'
Autor:
Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101025- (2024)
Background: LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies fro
Externí odkaz:
https://doaj.org/article/1a45fc52d11a4d23afe8ed165c1b53b1
Autor:
Gudny A. Arnadottir, Asmundur Oddsson, Brynjar O. Jensson, Svanborg Gisladottir, Mariella T. Simon, Asgeir O. Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V. Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R. Oskarsson, Jurate Asmundsson, Thora Steffensen, Kjartan R. Gudmundsson, Petur Ludvigsson, Jon J. Jonsson, Gisli Masson, Ingileif Jonsdottir, Hilma Holm, Jon G. Jonasson, Olafur Th. Magnusson, Olafur Thorarensen, Jose Abdenur, Gudmundur L. Norddahl, Daniel F. Gudbjartsson, Hans T. Bjornsson, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
While the consequences of homozygous loss of function variants have been studied, the effect of missense variants is less understood. Here, the authors identify pathogenic genotypes through an observed deficit of homozygous carriers of missense varia
Externí odkaz:
https://doaj.org/article/b8f84ef077ff486aaff6925f0ff44160
Autor:
Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebekah Barrick, Marina Trivisano, Alessia Micalizzi, Rossella Borghi, Elena Messina, Cecilia Mancini, Simone Pizzi, Flavia De Santis, Marion Rosello, Nicola Specchio, Claudia Compagnucci, Kirsty McWalter, Wendy K Chung, Filippo Del Bene, Marco Tartaglia
Publikováno v:
Human Molecular Genetics. 32:473-488
Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin-encoding g
Autor:
Carlos Mares Beltran, Jose Abdenur, Richard Chang, Rebekah Barrick, Rebecca Spongberg, Christina G. Tise, Annie D. Niehaus, Gregory Enns
Publikováno v:
Molecular Genetics and Metabolism. 138:107455
Autor:
Joshua J. Ziarek, Manju A. Kurian, Daniel Scott, Rebekah Barrick, Kate Baker, Jasper J. van der Smagt, Anna Kolesnik-Taylor, Jenny Thies, Holly Melland, Lucy Loong, Shelagh Joss, Marjolein H. Willemsen, Fabian Bumbak, Sarah L. Gordon, Abinayah John, Elise Ng-Cordell, R. Pfundt, Christina Fagerberg, Majid Alfadhel, Frances Emslie, Martin Jakob Larsen, Panayiotis Constantinou, Tjitske Kleefstra, Mathilde Nizon, Richard Chang
PurposeSynaptotagmin-1 (SYT1) is a critical mediator of neurotransmitter release in the central nervous system. Previously reported missense SYT1 variants in the C2B domain are associated with severe intellectual disability, movement disorders, behav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76a0f613afeeb982a98e243544fa1ede
https://doi.org/10.1101/2021.07.21.21260857
https://doi.org/10.1101/2021.07.21.21260857