Zobrazeno 1 - 10
of 244
pro vyhledávání: '"Miguel A. Esteves"'
Autor:
Salome Funes, Jonathan Jung, Del Hayden Gadd, Michelle Mosqueda, Jianjun Zhong, Shankaracharya, Matthew Unger, Karly Stallworth, Debra Cameron, Melissa S. Rotunno, Pepper Dawes, Megan Fowler-Magaw, Pamela J. Keagle, Justin A. McDonough, Sivakumar Boopathy, Miguel Sena-Esteves, Jeffrey A. Nickerson, Cathleen Lutz, William C. Skarnes, Elaine T. Lim, Dorothy P. Schafer, Francesca Massi, John E. Landers, Daryl A. Bosco
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)
Abstract Microglia play a pivotal role in neurodegenerative disease pathogenesis, but the mechanisms underlying microglia dysfunction and toxicity remain to be elucidated. To investigate the effect of neurodegenerative disease-linked genes on the int
Externí odkaz:
https://doaj.org/article/2c85d3969eb543aa96ee0dead9833143
Autor:
Minggang Fang, Sara K. Deibler, Pranathi Meda Krishnamurthy, Feng Wang, Paola Rodriguez, Shahid Banday, Ching-Man Virbasius, Miguel Sena-Esteves, Jonathan K. Watts, Michael R. Green
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Fragile X Syndrome (FXS) is a neurological disorder caused by epigenetic silencing of the FMR1 gene. Reactivation of FMR1 is a potential therapeutic approach for FXS that would correct the root cause of the disease. Here, using a candidate-based shRN
Externí odkaz:
https://doaj.org/article/3a274fd2567945d28c750f6d92ecc94f
Autor:
Hector Ribeiro Benatti, Rachel D. Prestigiacomo, Toloo Taghian, Rachael Miller, Robert King, Matthew J. Gounis, Ugur Celik, Stephanie Bertrand, Susan Tuominen, Lindsey Bierfeldt, Elizabeth Parsley, Jillian Gallagher, Erin F. Hall, Abigail W. McElroy, Miguel Sena-Esteves, Anastasia Khvorova, Neil Aronin, Heather L. Gray-Edwards
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101122- (2023)
Oligonucleotide therapeutics offer great promise in the treatment of previously untreatable neurodegenerative disorders; however, there are some challenges to overcome in pre-clinical studies. (1) They carry a well-established dose-related acute neur
Externí odkaz:
https://doaj.org/article/47746a402a8d49c9b29336720b82daae
Autor:
Bernie S. Owusu-Yaw, Yongzhi Zhang, Lilyan Garrett, Alvin Yao, Kai Shing, Ana Rita Batista, Miguel Sena-Esteves, Jaymin Upadhyay, Kimberly Kegel-Gleason, Nick Todd
Publikováno v:
Pharmaceutics, Vol 16, Iss 6, p 710 (2024)
Huntington’s disease (HD) is a monogenic neurodegenerative disorder caused by a cytosine–adenine–guanine (CAG) trinucleotide repeat expansion in the HTT gene. There are no cures for HD, but the genetic basis of this disorder makes gene therapy
Externí odkaz:
https://doaj.org/article/43d0c465e7be489286ab7330c5da1dca
Autor:
Michaël Hocquemiller, Laura Giersch, Xin Mei, Amanda L. Gross, Ashley N. Randle, Heather L. Gray-Edwards, Judith A. Hudson, Sophia Todeasa, Lorelei Stoica, Douglas R. Martin, Miguel Sena-Esteves, Karen Aiach, Ralph Laufer
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 281-292 (2022)
GM1 gangliosidosis is a rare, inherited neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes the lysosomal hydrolase acid β-galactosidase (β-gal). β-gal deficiency leads to toxic accumulation of GM1 ganglioside, predomina
Externí odkaz:
https://doaj.org/article/157bca7427c44bc4a59c76e532caa74e
Autor:
Pamela Kell, Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena-Raluca Nicoli, Precilla D'Souza, Cynthia J. Tifft, Amanda L. Gross, Heather L. Gray-Edwards, Douglas R. Martin, Miguel Sena- Esteves, Dennis J. Dietzen, Manmilan Singh, Jingqin Luo, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Publikováno v:
EBioMedicine, Vol 92, Iss , Pp 104627- (2023)
Summary: Background: GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by mutations in the GLB1 gene and deficiency in β-galactosidase. Delay of symptom onset and increase in lifespan in a GM1 gangliosidosis cat model after adeno
Externí odkaz:
https://doaj.org/article/c41107db896a498c9a58d10f4784660e
Autor:
Toloo Taghian, Ana Rita Batista, Sarah Kamper, Michael Caldwell, Laura Lilley, Hao Li, Paola Rodriguez, Katerina Mesa, Shaokuan Zheng, Robert M. King, Matthew J. Gounis, Sophia Todeasa, Anne Maguire, Douglas R. Martin, Miguel Sena-Esteves, Thomas J. Meade, Heather L. Gray-Edwards
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss , Pp 128-134 (2021)
Transformative results of adeno-associated virus (AAV) gene therapy in patients with spinal muscular atrophy and Leber’s congenital amaurosis led to approval of the first two AAV products in the United States to treat these diseases. These extraord
Externí odkaz:
https://doaj.org/article/c16bf88485644845ad32d3c283989ad8
Autor:
Oeystein R. Brekk, Joanna A. Korecka, Cecile C. Crapart, Mylene Huebecker, Zachary K. MacBain, Sara Ann Rosenthal, Miguel Sena-Esteves, David A. Priestman, Frances M. Platt, Ole Isacson, Penelope J. Hallett
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-14 (2020)
Abstract Sandhoff disease (SD) is a lysosomal storage disease, caused by loss of β-hexosaminidase (HEX) activity resulting in the accumulation of ganglioside GM2. There are shared features between SD and Parkinson’s disease (PD). α-synuclein (aSY
Externí odkaz:
https://doaj.org/article/a6679db376524eaf95dfb742563c7bce
Autor:
Heather L. Gray-Edwards, Anne S. Maguire, Nouha Salibi, Lauren E. Ellis, Taylor L. Voss, Elise B. Diffie, Jey Koehler, Ashley N. Randle, Amanda R. Taylor, Brandon L. Brunson, Thomas S. Denney, Ronald J. Beyers, Atoska S. Gentry, Amanda L. Gross, Ana R. Batista, Miguel Sena-Esteves, Douglas R. Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 258-270 (2020)
GM1 gangliosidosis (GM1) is a fatal neurodegenerative lysosomal storage disease that occurs most commonly in young children, with no effective treatment available. Long-term follow-up of GM1 cats treated by bilateral thalamic and deep cerebellar nucl
Externí odkaz:
https://doaj.org/article/e5a002b5c4934f989fe4e2733f002031
Autor:
Shilpa Prabhakar, Pike See Cheah, Xuan Zhang, Max Zinter, Maria Gianatasio, Eloise Hudry, Roderick T. Bronson, David J. Kwiatkowski, Anat Stemmer-Rachamimov, Casey A. Maguire, Miguel Sena-Esteves, Bakhos A. Tannous, Xandra O. Breakefield
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 18-26 (2019)
Tuberous sclerosis complex (TSC) is a tumor suppressor syndrome caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin, respectively. These proteins act as a complex that inhibits mammalian target of rapamycin (mTOR)-mediated cell growth
Externí odkaz:
https://doaj.org/article/5011cb5ccfc6461d9959126df3595260