Zobrazeno 1 - 10
of 219
pro vyhledávání: '"R, La Spada"'
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
IntroductionSpinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder characterized by cerebellar and retinal degeneration. SCA7 is caused by a CAG-polyglutamine repeat expansion in the ataxin-7 gene, which encodes a transcripti
Externí odkaz:
https://doaj.org/article/f717cd22ee1e4d8ba0d28ed41a51d2dc
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, 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:
Anastasia Gromova, Byeonggu Cha, Erica M. Robinson, Laura M. Strickland, Nhat Nguyen, Mai K. ElMallah, Constanza J. Cortes, Albert R. La Spada
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-13 (2023)
Abstract X-linked spinal and bulbar muscular atrophy (SBMA; Kennedy's disease) is a rare neuromuscular disorder characterized by adult-onset proximal muscle weakness and lower motor neuron degeneration. SBMA was the first human disease found to be ca
Externí odkaz:
https://doaj.org/article/f527183059514e94be5a8849890b6b7f
Autor:
Ian Matthews, Allison Birnbaum, Anastasia Gromova, Amy W. Huang, Kailin Liu, Eleanor A. Liu, Kristen Coutinho, Megan McGraw, Dalton C. Patterson, Macy T. Banks, Amber C. Nobles, Nhat Nguyen, Gennifer E. Merrihew, Lu Wang, Eric Baeuerle, Elizabeth Fernandez, Nicolas Musi, Michael J. MacCoss, Helen C. Miranda, Albert R. La Spada, Constanza J. Cortes
Publikováno v:
Cell Reports, Vol 42, Iss 11, Pp 113436- (2023)
Summary: Skeletal muscle has recently arisen as a regulator of central nervous system (CNS) function and aging, secreting bioactive molecules known as myokines with metabolism-modifying functions in targeted tissues, including the CNS. Here, we repor
Externí odkaz:
https://doaj.org/article/1587bf560e50423e9bbcf4e8794e369a
Autor:
Ya Cui, Frederick J. Arnold, Fanglue Peng, Dan Wang, Jason Sheng Li, Sebastian Michels, Eric J. Wagner, Albert R. La Spada, Wei Li
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Alternative polyadenylation (APA) contributes to the post-transcriptional regulation of most human genes, yet the effects of APA are largely overlooked by conventional transcriptome-wide association studies (TWAS). Here, the authors conduct an APA-TW
Externí odkaz:
https://doaj.org/article/3b9acc93f1604e6d9cce16b07c9ad72d
Autor:
Joe R. Delaney, Albert R. La Spada
Publikováno v:
STAR Protocols, Vol 4, Iss 2, Pp 102205- (2023)
Summary: Translocation sequencing can be used to assess mechanisms of DNA repair and identify genome-wide double-strand breaks (DSBs) accessible to DNA repair machinery. Here, we present a protocol for mapping double-strand DNA break sites across the
Externí odkaz:
https://doaj.org/article/3893213cd32147d9bb4d691062c1dc10
Autor:
Aristides Hadjinicolaou, Kathie J. Ngo, Daniel Y. Conway, John P. Provias, Steven K. Baker, Lauren I. Brady, Craig L. Bennett, Albert R. La Spada, Brent L. Fogel, Grace Yoon
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-13 (2021)
Abstract Pathogenic variants in SETX cause two distinct neurological diseases, a loss-of-function recessive disorder, ataxia with oculomotor apraxia type 2 (AOA2), and a dominant gain-of-function motor neuron disorder, amyotrophic lateral sclerosis t
Externí odkaz:
https://doaj.org/article/461130cb06754f06a682219f2ea46453
Autor:
Craig L. Bennett, Albert R. La Spada
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Abstract Background Senataxin (SETX) is a DNA/RNA helicase critical for neuron survival. SETX mutations underlie two inherited neurodegenerative diseases: Ataxia with Oculomotor Apraxia type 2 (AOA2) and Amyotrophic Lateral Sclerosis type 4 (ALS4). M
Externí odkaz:
https://doaj.org/article/2ba6ad389cec4212b4de18bdbefa11b3
Autor:
Anna F. Fusco, Logan A. Pucci, Pawel M. Switonski, Debolina D. Biswas, Angela L. McCall, Amanda F. Kahn, Justin S. Dhindsa, Laura M. Strickland, Albert R. La Spada, Mai K. ElMallah
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 7 (2021)
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. Infantile-onset SCA7 patients display extremely large repeat expansions (>200 CAGs) a
Externí odkaz:
https://doaj.org/article/8c75ff01c0a146fcb49a77e3ba463d3f