Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Sarah M. Waldherr"'
Autor:
Sarah M. Waldherr, Marina Han, Aleen D. Saxton, Taylor A. Vadset, Pamela J. McMillan, Jeanna M. Wheeler, Nicole F. Liachko, Brian C. Kraemer
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-19 (2024)
Abstract Pathological tau disrupts protein homeostasis (proteostasis) within neurons in Alzheimer’s disease (AD) and related disorders. We previously showed constitutive activation of the endoplasmic reticulum unfolded protein response (UPRER) tran
Externí odkaz:
https://doaj.org/article/1dbc62a4684b4673b78505934d8b0d3a
Autor:
Marina Han, Aleen Saxton, Heather Currey, Sarah M. Waldherr, Nicole F. Liachko, Brian C. Kraemer
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 3 (2024)
Externí odkaz:
https://doaj.org/article/9a227db882a241e29a42b610bf0b675f
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Accumulation of abnormal tau protein drives neurodegeneration in Alzheimer’s disease and related dementia disorders. Here, the authors demonstrate the endoplasmic reticulum unfolded protein response mediator XBP-1 controls pathological tau accumula
Externí odkaz:
https://doaj.org/article/b7f4bfc7537f47e98022e319db30674b
Publikováno v:
Nature Communications
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
To endure over the organismal lifespan, neurons utilize multiple strategies to achieve protein homeostasis (proteostasis). Some homeostatic mechanisms act in a subcellular compartment-specific manner, but others exhibit trans-compartmental mechanisms
Autor:
Pilar Mazzetti, Marlene Jimenez-Del-Rio, Carlos Velez-Pardo, Mario Cornejo-Olivas, Sonia Moreno, Ignacio F. Mata, Francisco Lopera, Cyrus P. Zabetian, Luis Torres, Sarah M. Waldherr, Oswaldo Lorenzo-Betancor, Miguel Inca-Martinez, Carlos Cosentino, Dora Yearout
Publikováno v:
Parkinsonism Relat Disord
Background Mutations in the glucocerebrosidase (GBA) gene are an important risk factor for Parkinson's disease (PD). However, most GBA genetic studies in PD have been performed in patients of European origin and very few data are available in other p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cfb2feabd98fc56443ff22c6f3f9fc6
https://hdl.handle.net/20.500.12866/6921
https://hdl.handle.net/20.500.12866/6921
Autor:
Víctor Raggio, Jorge Chang-Castello, Claudia Perandones, Francisco Lopera, Miguel Inca-Martinez, Federico Micheli, Pilar Mazzetti, Ignacio F. Mata, Mario R. Velit-Salazar, Dora Yearout, Luis Torres, Carlos Cosentino, Vitor Tumas, Carlos Roberto de Mello Rieder, Brennie Andreé-Munoz, Vanderci Borges, Mario Cornejo-Olivas, Artur Shumacher-Schuh, Marlene Jimenez-Del-Rio, Elena Dieguez, Henrique Ballalai Ferraz, Sarah M. Waldherr, Carlos Velez-Pardo, Cyrus P. Zabetian
Publikováno v:
Repositorio UdeA
Universidad de Antioquia
instacron:Universidad de Antioquia
npj Parkinson's Disease, Vol 3, Iss 1, Pp 1-6 (2017)
NPJ Parkinson's Disease
Universidad de Antioquia
instacron:Universidad de Antioquia
npj Parkinson's Disease, Vol 3, Iss 1, Pp 1-6 (2017)
NPJ Parkinson's Disease
Mutations in Leucine Repeat Rich Kinase 2 (LRRK2), primarily located in codons G2019 and R1441, represent the most common genetic cause of Parkinson’s disease in European-derived populations. However, little is known about the frequency of these mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::238cff1aaebc6d839b23ef42718b06d9
https://hdl.handle.net/20.500.12866/4794
https://hdl.handle.net/20.500.12866/4794
Autor:
Vincent A. Damian, Sarah M. Waldherr, Travis D. Baughn, Bryce L. Sopher, Stephanie A. Furrer, Gwenn A. Garden, Kien Thiet Nguyen, Mathini S. Mohanachandran, Albert R. La Spada
Publikováno v:
Human Molecular Genetics. 22:890-903
Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disorder caused by a CAG - polyglutamine (polyQ) repeat expansion in the ataxin-7 gene. In polyQ disorders, synaptic dysfunction and neurodegeneration may develop prior
Autor:
Sarah M. Waldherr, Vincent A. Damian, Bryce L. Sopher, Christopher H. Chang, Gwenn A. Garden, Stephanie A. Furrer, Albert R. La Spada, Mathini S. Mohanachandran
Publikováno v:
The Journal of Neuroscience. 31:16269-16278
Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited disorder characterized by cerebellum and brainstem neurodegeneration. SCA7 is caused by a CAG/polyglutamine (polyQ) repeat expansion in the ataxin-7 gene. We previously reported that dire
Autor:
Sarah M. Waldherr, Manabu Funayama, Yutaka Oji, Hiroyo Yoshino, Nobutaka Hattori, Shin Ichiro Kubo, Taku Hatano, Hirooki Yabe, Genko Oyama, Yoshikuni Mizuno, Yasushi Shimo, Yasuto Kunii, Ken ichi Fujimoto, Ignacio F. Mata, Akio Mori, Cyrus P. Zabetian, Hirokazu Oshima
Leucine-rich repeat kinase 2 (LRRK2) is a causative gene of autosomal dominant familial Parkinson's disease (PD). We screened for LRRK2 mutations in 3 frequently reported exons (31, 41, and 48) in our cohort of 871 Japanese patients with PD (430 with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6530673024b5612ec0b5eceb74bd9352
https://europepmc.org/articles/PMC4171438/
https://europepmc.org/articles/PMC4171438/
Autor:
Pilar Gómez-Garre, María Sierra, Dora Yearout, Renee Ribacoba, Ignacio F. Mata, Cyrus P. Zabetian, Jon Infante, Pablo Mir, Victoria Alvarez, Sarah M. Waldherr
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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This work was supported by grants from the Parkinson's disease Foundation; Department of Veterans Affairs (1I01BX000531), National Institutes of Health (P50 NS062684, R01 NS065070 and R25 TW009345), Fondo de Investigacion Sanitaria (FIS, PI11/00228,