Cargando…

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease

Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder whose motor, cognitive, and behavioral manifestations are caused by an expanded, somatically unstable CAG repeat in the first exon of HTT that lengthens a polyglutamine tract in huntingtin. Genome-wide association studies...

Descripción completa

Detalles Bibliográficos
Autores principales:	McLean, Zachariah L., Gao, Dadi, Correia, Kevin, Roy, Jennie C. L., Shibata, Shota, Farnum, Iris N., Valdepenas-Mellor, Zoe, Rapuru, Manasa, Morini, Elisabetta, Ruliera, Jayla, Gillis, Tammy, Lucente, Diane, Kleinstiver, Benjamin P., Lee, Jong-Min, MacDonald, Marcy E., Wheeler, Vanessa C., Pinto, Ricardo Mouro, Gusella, James F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402039/ https://www.ncbi.nlm.nih.gov/pubmed/37547003 http://dx.doi.org/10.1101/2023.07.25.550489

Ejemplares similares

Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington’s Disease Knock-In Mice
por: Neto, João Luís, et al.
Publicado: (2017)

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out
por: Loupe, Jacob M, et al.
Publicado: (2020)

Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver
por: Lee, Jong-Min, et al.
Publicado: (2011)

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1
por: Mouro Pinto, Ricardo, et al.
Publicado: (2020)

Genetic analysis of the GRIK2 modifier effect in Huntington's disease
por: Zeng, Wenqi, et al.
Publicado: (2006)

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches
por: Pinto, Ricardo Mouro, et al.
Publicado: (2013)

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection
por: Roy, Jennie C L, et al.
Publicado: (2021)

A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths
por: Hung, Claudia Lin-Kar, et al.
Publicado: (2018)

Huntington's disease: the case for genetic modifiers
por: Gusella, James F, et al.
Publicado: (2009)

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice
por: Kovalenko, Marina, et al.
Publicado: (2020)

Exome sequencing of individuals with Huntington’s disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset
por: McAllister, Branduff, et al.
Publicado: (2022)

Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice
por: Kovalenko, Marina, et al.
Publicado: (2012)

A Broad Phenotypic Screen Identifies Novel Phenotypes Driven by a Single Mutant Allele in Huntington’s Disease CAG Knock-In Mice
por: Hölter, Sabine M., et al.
Publicado: (2013)

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease
por: Ramos, Eliana Marisa, et al.
Publicado: (2015)

Population-specific genetic modification of Huntington's disease in Venezuela
por: Chao, Michael J., et al.
Publicado: (2018)

Chromosome substitution strain assessment of a Huntington’s disease modifier locus
por: Ramos, Eliana Marisa, et al.
Publicado: (2015)

HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes
por: Galkina, Ekaterina I., et al.
Publicado: (2014)

Intermediate CAG Repeats in Huntington's Disease: Analysis of COHORT
por: Ha, Ainhi D., et al.
Publicado: (2012)

What is the Pathogenic CAG Expansion Length in Huntington’s Disease?
por: Donaldson, Jasmine, et al.
Publicado: (2021)

Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease
por: Ellis, Natalie, et al.
Publicado: (2020)

Late-onset Huntington’s disease with 40–42 CAG expansion
por: Capiluppi, Elisa, et al.
Publicado: (2019)

Huntington’s Disease Pathogenesis: Two Sequential Components
por: Hong, Eun Pyo, et al.
Publicado: (2021)

CAG repeat expansion in the Huntington’s disease gene shapes linear and circular RNAs biogenesis
por: Ayyildiz, Dilara, et al.
Publicado: (2023)

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset
Publicado: (2019)

Reduction of Huntington’s Disease RNA Foci by CAG Repeat-Targeting Reagents
por: Urbanek, Martyna O., et al.
Publicado: (2017)

Parkinsonism with a Hint of Huntington’s from 29 CAG Repeats in HTT
por: JOT, Sipilä
Publicado: (2019)

Case report and literature review of Huntington disease with intermediate CAG expansion
por: Jevtic, Stefan D, et al.
Publicado: (2020)

Assessing average somatic CAG repeat instability at the protein level
por: Aviolat, Hubert, et al.
Publicado: (2019)

Huntington’s disease mouse models: unraveling the pathology caused by CAG repeat expansion
por: Kaye, Julia, et al.
Publicado: (2021)

Pms2 Suppresses Large Expansions of the (GAA·TTC)(n) Sequence in Neuronal Tissues
por: Bourn, Rebecka L., et al.
Publicado: (2012)

Continuous and Periodic Expansion of CAG Repeats in Huntington's Disease R6/1 Mice
por: Møllersen, Linda, et al.
Publicado: (2010)

CAG-Expansion Haplotype Analysis in a Population with a Low Prevalence of Huntington's Disease
por: Pulkes, Teeratorn, et al.
Publicado: (2014)

Problems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity
por: Budworth, Helen, et al.
Publicado: (2016)

FAN1 modifies Huntington’s disease progression by stabilizing the expanded HTT CAG repeat
por: Goold, Robert, et al.
Publicado: (2019)

The Association between CAG Repeat Length and Age of Onset of Juvenile-Onset Huntington’s Disease
por: Schultz, Jordan L., et al.
Publicado: (2020)

CAG Repeat Instability in the Peripheral and Central Nervous System of Transgenic Huntington’s Disease Monkeys
por: Cho, In K., et al.
Publicado: (2022)

Stoichiometry of Base Excision Repair Proteins Correlates with Increased Somatic CAG Instability in Striatum over Cerebellum in Huntington's Disease Transgenic Mice
por: Goula, Agathi-Vassiliki, et al.
Publicado: (2009)

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation
por: Ciosi, Marc, et al.
Publicado: (2021)

A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity
por: Bañez-Coronel, Mónica, et al.
Publicado: (2012)

Association between Age and Striatal Volume Stratified by CAG Repeat Length in Prodromal Huntington Disease
por: Aylward, Elizabeth, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_ra11sujh0c1e368b99dig1jnd2