Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Sara Saez"'
Autor:
Paolo Reho, Sara Saez-Atienzar, Paola Ruffo, Sultana Solaiman, Zalak Shah, Ruth Chia, Karri Kaivola, Bryan J. Traynor, Bension S. Tilley, Steve M. Gentleman, Angela K. Hodges, Dag Aarsland, Edwin S. Monuki, Kathy L. Newell, Randy Woltjer, Marilyn S. Albert, Ted M. Dawson, Liana S. Rosenthal, Juan C. Troncoso, Olga Pletnikova, Geidy E. Serrano, Thomas G. Beach, Hariharan P. Easwaran, Sonja W. Scholz
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-10 (2024)
Abstract Dementia with Lewy bodies (DLB) is a common form of dementia in the elderly population. We performed genome-wide DNA methylation mapping of cerebellar tissue from pathologically confirmed DLB cases and controls to study the epigenetic profil
Externí odkaz:
https://doaj.org/article/1f5a47a3a95d4835830f83e30874d417
Autor:
Ming Zhang, Zhengrui Xi, Sara Saez-Atienzar, Ruth Chia, Danielle Moreno, Christine Sato, Mahdi Montazer Haghighi, Bryan J. Traynor, Lorne Zinman, Ekaterina Rogaeva
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-9 (2021)
Abstract Age at onset of amyotrophic lateral sclerosis (ALS) is highly variable (eg, 27–74 years in carriers of the G4C2-expansion in C9orf72). It might be influenced by environmental and genetic factors via the modulation of DNA methylation (DNAm)
Externí odkaz:
https://doaj.org/article/6c0d2fd2b5314f7f9b0e946d45a59fc7
Autor:
Abel Merino Orozco, Miriam Calvo Ruiz, Cristina Di Giusto Valle, Gloria Pérez de Albéniz Garrote, Begoña Medina Gómez, Aida Gutiérrez García, Sara Saez Velasco, Valeriana Guijo Blanco
Publikováno v:
Social Sciences, Vol 12, Iss 6, p 325 (2023)
Migrant women who experience gender-based violence face a framework of social vulnerability that is compounded by their status as both women and migrants, requiring specific attention in social support. The aim of this study is to understand the situ
Externí odkaz:
https://doaj.org/article/1230405b83394ef381ab0e3c0a425885
Autor:
Desiree M. Baron, Adam R. Fenton, Sara Saez-Atienzar, Anthony Giampetruzzi, Aparna Sreeram, Shankaracharya, Pamela J. Keagle, Victoria R. Doocy, Nathan J. Smith, Eric W. Danielson, Megan Andresano, Mary C. McCormack, Jaqueline Garcia, Valérie Bercier, Ludo Van Den Bosch, Jonathan R. Brent, Claudia Fallini, Bryan J. Traynor, Erika L.F. Holzbaur, John E. Landers
Publikováno v:
Cell Reports, Vol 39, Iss 1, Pp 110598- (2022)
Summary: Understanding the pathogenic mechanisms of disease mutations is critical to advancing treatments. ALS-associated mutations in the gene encoding the microtubule motor KIF5A result in skipping of exon 27 (KIF5AΔExon27) and the encoding of a p
Externí odkaz:
https://doaj.org/article/41f4ac2c79914783b41ee67f3202e865
Autor:
David X. Medina, Ashley Boehringer, Marissa Dominick, Ileana Lorenzini, Sara Saez-Atienzar, Erik P. Pioro, Rita Sattler, Bryan Traynor, Robert Bowser
Publikováno v:
Stem Cell Research, Vol 50, Iss , Pp 102141- (2021)
Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC cl
Externí odkaz:
https://doaj.org/article/dabe6586663848a4a1afb03597796063
Autor:
Alexandra Beilina, Luis Bonet-Ponce, Ravindran Kumaran, Jennifer J. Kordich, Morié Ishida, Adamantios Mamais, Alice Kaganovich, Sara Saez-Atienzar, David C. Gershlick, Dorien A. Roosen, Laura Pellegrini, Vlad Malkov, Matthew J. Fell, Kirsten Harvey, Juan S. Bonifacino, Darren J. Moore, Mark R. Cookson
Publikováno v:
Cell Reports, Vol 31, Iss 5, Pp - (2020)
Summary: Mutations in Leucine-rich repeat kinase 2 (LRRK2) cause Parkinson’s disease (PD). However, the precise function of LRRK2 remains unclear. We report an interaction between LRRK2 and VPS52, a subunit of the Golgi-associated retrograde protei
Externí odkaz:
https://doaj.org/article/8f3645a2b68b47bab2889e3c6b78354d
Autor:
Junbing Wu, Justin Kung, Jie Dong, Lisa Chang, Chengsong Xie, Ahsan Habib, Sarah Hawes, Nannan Yang, Vivian Chen, Zhenhua Liu, Rebekah Evans, Bo Liang, Lixin Sun, Jinhui Ding, Jia Yu, Sara Saez-Atienzar, Beisha Tang, Zayd Khaliq, Da-Ting Lin, Weidong Le, Huaibin Cai
Publikováno v:
Cell Reports, Vol 28, Iss 5, Pp 1167-1181.e7 (2019)
Summary: Parkinson’s disease causes the most profound loss of the aldehyde dehydrogenase 1A1-positive (ALDH1A1+) nigrostriatal dopaminergic neuron (nDAN) subpopulation. The connectivity and functionality of ALDH1A1+ nDANs, however, remain poorly un
Externí odkaz:
https://doaj.org/article/a5d121868518430e84c49e875baf1fca
Autor:
Esther Cubo, Montesclaros Hortigüela, Sandra Jorge-Roldan, Selva E. Ciciliani, Patricia Lopez, Leticia Velasco, Emilio Sastre, Vanesa Ausin, Vanesa Delgado, Sara Saez, José T. Gabriel-Galán, Jesús Macarrón
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 4 (2014)
Background: While current research suggests that genetic factors confer the greatest risk for the development of tic disorders, studies of environmental factors are relatively few, with a lack of consistent risk factors across studies. Our aim is to
Externí odkaz:
https://doaj.org/article/519167743c2a4c12ba8e1bf3c7299767
Autor:
Blanco, Abel Merino Orozco, Miriam Calvo Ruiz, Cristina Di Giusto Valle, Gloria Pérez de Albéniz Garrote, Begoña Medina Gómez, Aida Gutiérrez García, Sara Saez Velasco, Valeriana Guijo
Publikováno v:
Social Sciences; Volume 12; Issue 6; Pages: 325
Migrant women who experience gender-based violence face a framework of social vulnerability that is compounded by their status as both women and migrants, requiring specific attention in social support. The aim of this study is to understand the situ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::08e486aa61ab5872d14547a083579453
Autor:
Nicolás Pérez-Fernández, Sara Saez Coronado, Cristina Zulueta-Santos, Fernando Neria Serrano, Jorge Rey-Martinez, Melisa Blanco, Raquel Manrique-Huarte
Publikováno v:
Journal of Clinical Medicine; Volume 12; Issue 10; Pages: 3413
Benign paroxysmal positional vertigo (BPPV) and bilateral vestibulopathy (BVL) are two completely different forms of vestibular disorder that occasionally occur in the same patient. We conducted a retrospective review searching for that coincidence i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c585c7af01768e28bda65eb03797a4