Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Ellie M. Carrell"'
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102317- (2024)
Spinocerebellar ataxia type 1 (SCA1) is an adult-onset neurodegenerative disease caused by an expansion of the CAG repeat region of the ATXN1 gene. Currently there are no disease-modifying treatments; however, previous work has shown the potential of
Externí odkaz:
https://doaj.org/article/29e2bfbcf05e4ad1ba3e0ed38d7d2a4d
Autor:
Jesse A. Weber, Jonathan F. Lang, Ellie M. Carrell, Mohamad-Gabriel Alameh, Beverly L. Davidson
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102172- (2024)
Clinical application of CRISPR-Cas9 technology for large deletions of somatic mutations is inefficient, and methods to improve utility suffer from our inability to rapidly assess mono- vs. biallelic deletions. Here we establish a model system for inv
Externí odkaz:
https://doaj.org/article/037b3f7b70b14bb5bc5a44156a339446
Autor:
Ellie M. Carrell, Yong Hong Chen, Paul T. Ranum, Stephanie L. Coffin, Larry N. Singh, Luis Tecedor, Megan S. Keiser, Eloise Hudry, Bradley T. Hyman, Beverly L. Davidson
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 296-304 (2023)
Recombinant adeno-associated viral vectors (rAAVs) are a promising strategy to treat neurodegenerative diseases because of their ability to infect non-dividing cells and confer long-term transgene expression. Despite an ever-growing library of capsid
Externí odkaz:
https://doaj.org/article/adb40a4cec5b4a3d9ab912e739f69a5c
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 333-343 (2022)
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease caused by a (CAG) repeat expansion in the coding sequence of ATXN1. The primary mechanism of disease in SCA1 is toxic gain of function by polyglutamine-expanded m
Externí odkaz:
https://doaj.org/article/63fbde220c9941b89c060e5e66a8214a
Autor:
Pedro Gonzalez-Alegre, Yong Hong Chen, Geary R. Smith, Enrico Radaelli, Joel M. Stein, Timothy J. Lucas, Megan S. Keiser, Beverly L. Davidson, Ellie M. Carrell, Ronald L. Wolf, Amy Muehlmatt, Carolyn M. Yrigollen, Paul T. Ranum
Publikováno v:
Nat Med
RNA interference (RNAi) for spinocerebellar ataxia type 1 can prevent and reverse behavioral deficits and neuropathological readouts in mouse models, with safety and benefit lasting over many months. The RNAi trigger, expressed from adeno-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a98a56cafb5ddb46197fe5fbde1961fc
https://europepmc.org/articles/PMC8605996/
https://europepmc.org/articles/PMC8605996/
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e49757 (2012)
We explored the potential of mutant allele-specific gene silencing (ASGS) in providing therapeutic benefit in two established mouse models of the autosomal dominantly-inherited muscle disorders, Malignant Hyperthermia (MH) and Central Core Disease (C
Externí odkaz:
https://doaj.org/article/8c5247a9f1f94e9fb7f2f6f1410b0b3c
Publikováno v:
Current Opinion in Genetics & Development. 44:135-140
Myotonic dystrophy (DM) is a dominantly-inherited genetic disorder affecting skeletal muscle, heart, brain, and other organs. DM type 1 is caused by expansion of a CTG triplet repeat in DMPK, whereas DM type 2 is caused by expansion of a CCTG tetrame
Publikováno v:
The FASEB Journal. 30:4109-4119
Orai1 is a transmembrane protein that forms homomeric, calcium-selective channels activated by stromal interaction molecule 1 (STIM1) after depletion of intracellular calcium stores. In adult skeletal muscle, depletion of sarcoplasmic reticulum calci
Autor:
Sanjay K. Pandey, Robert T. Dirksen, David S. Auerbach, Samuel Carrell, Charles A. Thornton, Ellie M. Carrell, C. Frank Bennett
Publikováno v:
Human Molecular Genetics. 25:4328-4338
Myotonic dystrophy type 1 (DM1) is a genetic disorder in which dominant-active DM protein kinase (DMPK) transcripts accumulate in nuclear foci, leading to abnormal regulation of RNA processing. A leading approach to treat DM1 uses DMPK-targeting anti
Autor:
Charles A. Thornton, Tammy Reid, Karen N. McFarland, Łukasz J. Sznajder, Krzysztof Sobczak, Ruan Oliveira, Laura P.W. Ranum, Kirti Bhatt, Maurice S. Swanson, James D. Thomas, Curtis A. Nutter, John D. Cleary, Tetsuo Ashizawa, Ellie M. Carrell
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 115(16)
Significance A number of hereditary neurological and neuromuscular diseases are caused by the abnormal expansion of short tandem repeats, or microsatellites, resulting in the expression of repeat expansion RNAs and proteins with pathological properti