Zobrazeno 1 - 10
of 197
pro vyhledávání: '"Albert R La Spada"'
Autor:
Joe R Delaney, Chandni B Patel, Jaidev Bapat, Christian M Jones, Maria Ramos-Zapatero, Katherine K Ortell, Ralph Tanios, Mina Haghighiabyaneh, Joshua Axelrod, John W DeStefano, Isabelle Tancioni, David D Schlaepfer, Olivier Harismendy, Albert R La Spada, Dwayne G Stupack
Publikováno v:
PLoS Genetics, Vol 16, Iss 1, p e1008558 (2020)
Autophagy, particularly with BECN1, has paradoxically been highlighted as tumor promoting in Ras-driven cancers, but potentially tumor suppressing in breast and ovarian cancers. However, studying the specific role of BECN1 at the genetic level is com
Externí odkaz:
https://doaj.org/article/f42e584000f74e659bc9e24835d7c355
Autor:
Rui Gao, Anirban Chakraborty, Charlene Geater, Subrata Pradhan, Kara L Gordon, Jeffrey Snowden, Subo Yuan, Audrey S Dickey, Sanjeev Choudhary, Tetsuo Ashizawa, Lisa M Ellerby, Albert R La Spada, Leslie M Thompson, Tapas K Hazra, Partha S Sarkar
Publikováno v:
eLife, Vol 8 (2019)
How huntingtin (HTT) triggers neurotoxicity in Huntington’s disease (HD) remains unclear. We report that HTT forms a transcription-coupled DNA repair (TCR) complex with RNA polymerase II subunit A (POLR2A), ataxin-3, the DNA repair enzyme polynucle
Externí odkaz:
https://doaj.org/article/868605a660db461085d000609c271e4b
Autor:
Shuo-Chien Ling, Somasish Ghosh Dastidar, Seiya Tokunaga, Wan Yun Ho, Kenneth Lim, Hristelina Ilieva, Philippe A Parone, Sheue-Houy Tyan, Tsemay M Tse, Jer-Cherng Chang, Oleksandr Platoshyn, Ngoc B Bui, Anh Bui, Anne Vetto, Shuying Sun, Melissa McAlonis-Downes, Joo Seok Han, Debbie Swing, Katannya Kapeli, Gene W Yeo, Lino Tessarollo, Martin Marsala, Christopher E Shaw, Greg Tucker-Kellogg, Albert R La Spada, Clotilde Lagier-Tourenne, Sandrine Da Cruz, Don W Cleveland
Publikováno v:
eLife, Vol 8 (2019)
Mutations in coding and non-coding regions of FUS cause amyotrophic lateral sclerosis (ALS). The latter mutations may exert toxicity by increasing FUS accumulation. We show here that broad expression within the nervous system of wild-type or either o
Externí odkaz:
https://doaj.org/article/04213ee8809d4946acefc96cd36ba9b2
Autor:
Tiffany W Todd, Hiroshi Kokubu, Helen C Miranda, Constanza J Cortes, Albert R La Spada, Janghoo Lim
Publikováno v:
eLife, Vol 4 (2015)
Spinal and bulbar muscular atrophy (SBMA) is a progressive neuromuscular disease caused by polyglutamine expansion in the androgen receptor (AR) protein. Despite extensive research, the exact pathogenic mechanisms underlying SBMA remain elusive. In t
Externí odkaz:
https://doaj.org/article/cc43d13fc78744b6a1f713f365da0625
Autor:
Jacqueline M Ward, Albert R La Spada
Publikováno v:
PLoS Genetics, Vol 11, Iss 1, p e1004937 (2015)
Externí odkaz:
https://doaj.org/article/6764ac0a2d9d4f0b99983fe09a5ec209
Autor:
Luke C. Bartelt, Mouad Fakhri, Grazyna Adamek, Magdalena Trybus, Anna Samelak-Czajka, Paulina Jackowiak, Agnieszka Fiszer, Craig B. Lowe, Albert R. La Spada, Pawel M. Switonski
Publikováno v:
Cell Reports: Methods, Vol 4, Iss 7, Pp 100816- (2024)
Summary: We developed a method that utilizes fluorescent labeling of nuclear envelopes alongside cytometry sorting for the selective isolation of Purkinje cell (PC) nuclei. Beginning with SUN1 reporter mice, we GFP-tagged envelopes to confirm that PC
Externí odkaz:
https://doaj.org/article/4c6c45c478fa4747abf678aa1cc531fa
Autor:
Craig L Bennett, Yingzhang Chen, Marissa Vignali, Russell S Lo, Amanda G Mason, Asli Unal, Nabiha P Huq Saifee, Stanley Fields, Albert R La Spada
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e78837 (2013)
Senataxin is a large 303 kDa protein linked to neuron survival, as recessive mutations cause Ataxia with Oculomotor Apraxia type 2 (AOA2), and dominant mutations cause amyotrophic lateral sclerosis type 4 (ALS4). Senataxin contains an amino-terminal
Externí odkaz:
https://doaj.org/article/93a9bf01b1ad458a8e692455b86ad31c
Autor:
Randell T Libby, Katharine A Hagerman, Victor V Pineda, Rachel Lau, Diane H Cho, Sandy L Baccam, Michelle M Axford, John D Cleary, James M Moore, Bryce L Sopher, Stephen J Tapscott, Galina N Filippova, Christopher E Pearson, Albert R La Spada
Publikováno v:
PLoS Genetics, Vol 4, Iss 11, p e1000257 (2008)
At least 25 inherited disorders in humans result from microsatellite repeat expansion. Dramatic variation in repeat instability occurs at different disease loci and between different tissues; however, cis-elements and trans-factors regulating the ins
Externí odkaz:
https://doaj.org/article/55d88fccdd2d45c6b6029d210e06b1de
Autor:
Craig L. Bennett, Somasish Dastidar, Frederick J. Arnold, Spencer U. McKinstry, Cameron Stockford, Brian D. Freibaum, Bryce L. Sopher, Meilin Wu, Glen Seidner, William Joiner, J. Paul Taylor, Ryan J. H. West, Albert R. La Spada
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-18 (2023)
Abstract Identifying genetic modifiers of familial amyotrophic lateral sclerosis (ALS) may reveal targets for therapeutic modulation with potential application to sporadic ALS. GGGGCC (G4C2) repeat expansions in the C9orf72 gene underlie the most com
Externí odkaz:
https://doaj.org/article/6f3ba7e74a9b45459c4b799036492c5d
Autor:
Frederick J. Arnold, Alexandra F. Putka, Urmimala Raychaudhuri, Solomon Hsu, Richard S. Bedlack, Craig L. Bennett, Albert R. La Spada
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 11, p 5587 (2024)
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disorder. While there are five FDA-approved drugs for treating this disease, each has only modest benefits. To design new and more effective therapies for ALS, particularly for spora
Externí odkaz:
https://doaj.org/article/d20eaf2f4c424d2b8c67b0bff66a8ea7