Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jenny M Bredenberg"'
Autor:
Olivia J Conway, Minerva M Carrasquillo, Xue Wang, Jenny M Bredenberg, Joseph S Reddy, Samantha L Strickland, Curtis S Younkin, Jeremy D Burgess, Mariet Allen, Sarah J Lincoln, Thuy Nguyen, Kimberly G Malphrus, Alexandra I Soto, Ronald L Walton, Bradley F Boeve, Ronald C Petersen, John A Lucas, Tanis J Ferman, William P Cheshire, Jay A van Gerpen, Ryan J Uitti, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, Neill R Graff-Radford, Nilüfer Ertekin-Taner
Publikováno v:
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer’s disease (AD). Methods We tested the association of these variants with five neurodegenerati
Externí odkaz:
https://doaj.org/article/26aae77c26cb4a6c9e381ff00070adea
Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W
Autor:
Bernardo A. Bustillos, Liam T. Cocker, Mathew A. Coban, Caleb A. Weber, Jenny M. Bredenberg, Paige K. Boneski, Joanna Siuda, Jaroslaw Slawek, Andreas Puschmann, Derek P. Narendra, Neill R. Graff-Radford, Zbigniew K. Wszolek, Dennis W. Dickson, Owen A. Ross, Thomas R. Caulfield, Wolfdieter Springer, Fabienne C. Fiesel
Publikováno v:
Cells, Vol 13, Iss 18, p 1540 (2024)
Mutations in the PINK1 and PRKN genes are the most frequent genetic cause of early-onset Parkinson disease. The pathogenic p.R275W substitution in PRKN is the most frequent substitution observed in patients, and thus far has been characterized mostly
Externí odkaz:
https://doaj.org/article/5d6ad57649a348b39690f2d65abfc257
Autor:
Benjamin J. Broadway, Paige K. Boneski, Jenny M. Bredenberg, Ana Kolicheski, Xu Hou, Alexandra I. Soto-Beasley, Owen A. Ross, Wolfdieter Springer, Fabienne C. Fiesel
Publikováno v:
Cells; Volume 11; Issue 15; Pages: 2426
Loss of either PINK1 or PRKN causes an early onset Parkinson’s disease (PD) phenotype. Functionally, PINK1 and PRKN work together to mediate stress-activated mitochondrial quality control. Upon mitochondrial damage, PINK1, a ubiquitin kinase and PR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1fcbb59d5243c7771e413c9b564edf9
Autor:
Lukasz M. Milanowski, Xu Hou, Jenny M. Bredenberg, Fabienne C. Fiesel, Liam T. Cocker, Alexandra I. Soto-Beasley, Ronald L. Walton, Audrey J. Strongosky, Ayman H. Faroqi, Maria Barcikowska, Magdalena Boczarska-Jedynak, Jaroslaw Dulski, Lyuda Fedoryshyn, Piotr Janik, Anna Potulska-Chromik, Katherine Karpinsky, Anna Krygowska-Wajs, Tim Lynch, Diana A. Olszewska, Grzegorz Opala, Aleksander Pulyk, Irena Rektorova, Yanosh Sanotsky, Joanna Siuda, Mariusz Widlak, Jaroslaw Slawek, Monika Rudzinska-Bar, Ryan Uitti, Monika Figura, Stanislaw Szlufik, Sylwia Rzonca-Niewczas, Elzbieta Podgorska, Pamela J. McLean, Dariusz Koziorowski, Owen A. Ross, Dorota Hoffman-Zacharska, Wolfdieter Springer, Zbigniew K. Wszolek
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7086
Parkinson’s disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226fa72689b0798b7cab5a43839b68ec
Autor:
Ronald C. Petersen, Ronald L. Walton, Jeremy D. Burgess, Alexandra I. Soto, Minerva M. Carrasquillo, Nilufer Ertekin-Taner, Sarah Lincoln, Dennis W. Dickson, Joseph S. Reddy, Kimberly G. Malphrus, Ryan J. Uitti, John A. Lucas, Owen A. Ross, Curtis S. Younkin, Zbigniew K. Wszolek, Thuy Nguyen, Samantha L. Strickland, Tanis J. Ferman, Bradley F. Boeve, Jay A. van Gerpen, Jenny M. Bredenberg, Neill R. Graff-Radford, Xue Wang, William P. Cheshire, Olivia J. Conway, Mariet Allen
Publikováno v:
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-12 (2018)
Molecular Neurodegeneration
Molecular Neurodegeneration
Background Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer’s disease (AD). Methods We tested the association of these variants with five neurodegenerative diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d2856a7de409685d50c6e77a9e02029
http://link.springer.com/article/10.1186/s13024-018-0289-x
http://link.springer.com/article/10.1186/s13024-018-0289-x
Autor:
Joseph S. Reddy, Maria T. Greig Custo, Sarah Lincoln, Ronald C. Petersen, Minerva M. Carrasquillo, Kimberly G. Malphrus, Curtis S. Younkin, Neill R. Graff-Radford, Thuy Nguyen, Jenny M. Bredenberg, Dennis W. Dickson, Nilufer Ertekin-Taner, Olivia J. Conway, Mariet Allen, Ranjan Duara
Publikováno v:
Alzheimer's & Dementia. 14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74f66c00ce6928202c86be179d074995
https://doi.org/10.1016/j.jalz.2018.06.164
https://doi.org/10.1016/j.jalz.2018.06.164
Autor:
Vivekananda Sarangi, Thuy Nguyen, Sarah Lincoln, Yan W. Asmann, Xue Wang, Mariet Allen, Joseph S. Reddy, Jenny M. Bredenberg, Nilufer Ertekin-Taner, Kimberly G. Malphrus, Dennis W. Dickson, Minerva M. Carrasquillo
Publikováno v:
Alzheimer's & Dementia. 14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bba40fb9dd1263cdc26efde17497cba
https://doi.org/10.1016/j.jalz.2018.06.1486
https://doi.org/10.1016/j.jalz.2018.06.1486