Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Luis A, Williams"'
Autor:
Karsten Nalbach, Martina Schifferer, Debjani Bhattacharya, Hung Ho-Xuan, Wei Chou Tseng, Luis A. Williams, Alexandra Stolz, Stefan F. Lichtenthaler, Zvulun Elazar, Christian Behrends
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Hereditary sensory and autonomic neuropathy 9 (HSAN9) is a rare fatal neurological disease caused by mis- and nonsense mutations in the gene encoding for Tectonin β-propeller repeat containing protein 2 (TECPR2). While TECPR2 is required fo
Externí odkaz:
https://doaj.org/article/6842faee2f4848b893cd13b63561bcca
Autor:
Luis A. Williams, David J. Gerber, Amy Elder, Wei Chou Tseng, Valeriya Baru, Nathaniel Delaney-Busch, Christina Ambrosi, Gauri Mahimkar, Vaibhav Joshi, Himali Shah, Karthiayani Harikrishnan, Hansini Upadhyay, Sakthi H. Rajendran, Aishwarya Dhandapani, Joshua Meier, Steven J. Ryan, Caitlin Lewarch, Lauren Black, Julie Douville, Stefania Cinquino, Helen Legakis, Karsten Nalbach, Christian Behrends, Ai Sato, Lorenzo Galluzzi, Timothy W. Yu, Duncan Brown, Sudhir Agrawal, David Margulies, Alan Kopin, Graham T. Dempsey
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 189-203 (2022)
Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder characterized by intellectual disability, impaired speech, motor delay, and hypotonia evolving to spasticity, central sleep apnea, and premature death (SPG49 or HSAN9;
Externí odkaz:
https://doaj.org/article/555fd4156baf47509e8e7211947eb238
Autor:
Karsten Nalbach, Martina Schifferer, Debjani Bhattacharya, Hung Ho-Xuan, Wei Chou Tseng, Luis A. Williams, Alexandra Stolz, Stefan F. Lichtenthaler, Zvulun Elazar, Christian Behrends
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/05c3dec578b84c7e8af33860749eca5a
Autor:
Pratibha Tripathi, Natalia Rodriguez-Muela, Joseph R. Klim, A. Sophie de Boer, Sahil Agrawal, Jackson Sandoe, Claudia S. Lopes, Karolyn Sassi Ogliari, Luis A. Williams, Matthew Shear, Lee L. Rubin, Kevin Eggan, Qiao Zhou
Publikováno v:
Stem Cell Reports, Vol 9, Iss 2, Pp 667-680 (2017)
Summary: Amyotrophic lateral sclerosis (ALS) is a fatal and rapidly progressing motor neuron disease. Astrocytic factors are known to contribute to motor neuron degeneration and death in ALS. However, the role of astrocyte in promoting motor neuron p
Externí odkaz:
https://doaj.org/article/c19e6915e3284aabb19a2ddc08012413
Autor:
Pin W. Liu, Hongkang Zhang, Christopher A. Werley, Monika Pichler, Steve Ryan, Caitlin Lewarch, Jane Jacques, Jennifer Grooms, John Ferrante, Guangde Li, Dawei Zhang, Nate Bremmer, Adam Barnett, Romina Chantre, Amy E. Elder, Adam E. Cohen, Luis A. Williams, Graham T. Dempsey, Owen B. McManus
Chronic pain associated with osteoarthritis (OA) remains an intractable problem with few effective treatment options. New approaches are needed to model the disease biology and to drive discovery of therapeutics. Here, we present anin vitromodel of O
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::088799b6f5f999c7b434c1b6a4461ccb
https://doi.org/10.1101/2022.12.12.520139
https://doi.org/10.1101/2022.12.12.520139
Autor:
Brian J. Wainger, Evangelos Kiskinis, Cassidy Mellin, Ole Wiskow, Steve S.W. Han, Jackson Sandoe, Numa P. Perez, Luis A. Williams, Seungkyu Lee, Gabriella Boulting, James D. Berry, Robert H. Brown Jr., Merit E. Cudkowicz, Bruce P. Bean, Kevin Eggan, Clifford J. Woolf
Publikováno v:
Cell Reports, Vol 7, Iss 1, Pp 1-11 (2014)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of the motor nervous system. We show using multielectrode array and patch-clamp recordings that hyperexcitability detected by clinical neurophysiological studies of ALS patients
Externí odkaz:
https://doaj.org/article/112c904730ec41668ec020f0d2182e62
Autor:
Dina Simkin, Christina Ambrosi, Kelly A. Marshall, Luis A. Williams, Jordyn Eisenberg, Mennat Gharib, Graham T. Dempsey, Alfred L. George, Owen B. McManus, Evangelos Kiskinis
Publikováno v:
Trends Pharmacol Sci
Induced pluripotent stem cell (iPSC) and gene editing technologies have revolutionized the field of in vitro disease modeling, granting us access to disease-pertinent human cells of the central nervous system. These technologies are particularly well
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30dfd020322e7bbc3d826e842e56c497
https://europepmc.org/articles/PMC9119009/
https://europepmc.org/articles/PMC9119009/
Autor:
Luis A, Williams, David J, Gerber, Amy, Elder, Wei Chou, Tseng, Valeriya, Baru, Nathaniel, Delaney-Busch, Christina, Ambrosi, Gauri, Mahimkar, Vaibhav, Joshi, Himali, Shah, Karthiayani, Harikrishnan, Hansini, Upadhyay, Sakthi H, Rajendran, Aishwarya, Dhandapani, Joshua, Meier, Steven J, Ryan, Caitlin, Lewarch, Lauren, Black, Julie, Douville, Stefania, Cinquino, Helen, Legakis, Karsten, Nalbach, Christian, Behrends, Ai, Sato, Lorenzo, Galluzzi, Timothy W, Yu, Duncan, Brown, Sudhir, Agrawal, David, Margulies, Alan, Kopin, Graham T, Dempsey
Publikováno v:
Molecular therapy. Nucleic acids. 29
Mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f46faf63abd1f4135c97b4442e9dca4
https://pubmed.ncbi.nlm.nih.gov/35860385
https://pubmed.ncbi.nlm.nih.gov/35860385
Autor:
Owen B. McManus, Yalan Zhang, Leonard K. Kaczmarek, Heather McClure, David J. Gerber, Imran H. Quraishi, Siddharth Kale, Luis A. Williams, Sudhir Agrawal, Graham T. Dempsey, Yung-Chih Cheng
Publikováno v:
FASEB J
Mutations in KCNC3, the gene that encodes the Kv3.3 voltage dependent potassium channel, cause Spinocerebellar Ataxia type 13 (SCA13), a disease associated with disrupted motor behaviors, progressive cerebellar degeneration, and abnormal auditory pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e2e9d9ea8e5f1ef52b0be029bc7458
https://pubmed.ncbi.nlm.nih.gov/34820911
https://pubmed.ncbi.nlm.nih.gov/34820911
Autor:
Hai Li, Kevin C. Kanning, Damian J. Williams, Elise Jiang, Krista Spiller, Kevin Eggan, Ivo Lieberam, Emily Rhodes Lowry, Marie-Hélène Larraufie, Jackson Sandoe, Sebastian Thams, Hynek Wichterle, Christopher E. Henderson, Brent R. Stockwell, Luis A. Williams, Phuong T. Hoang
Publikováno v:
Molecular Therapy. 27:87-101
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease selectively targeting motor neurons in the brain and spinal cord. The reasons for differential motor neuron susceptibility remain elusive. We developed a stem cell-based motor neuron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::619d924514bf9b9ee51eef8015136d02
https://doi.org/10.1016/j.ymthe.2018.10.010
https://doi.org/10.1016/j.ymthe.2018.10.010