Cargando…

Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD

BACKGROUND: The C9ORF72 hexanucleotide repeat expansion is the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two fatal age-related neurodegenerative diseases. The C9ORF72 expansion encodes five dipeptide repeat proteins (DPRs) that are prod...

Descripción completa

Detalles Bibliográficos
Autores principales:	Andrade, Nadja S., Ramic, Melina, Esanov, Rustam, Liu, Wenjun, Rybin, Mathew J., Gaidosh, Gabriel, Abdallah, Abbas, Del’Olio, Samuel, Huff, Tyler C., Chee, Nancy T., Anatha, Sadhana, Gendron, Tania F., Wahlestedt, Claes, Zhang, Yanbin, Benatar, Michael, Mueller, Christian, Zeier, Zane
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041170/ https://www.ncbi.nlm.nih.gov/pubmed/32093728 http://dx.doi.org/10.1186/s13024-020-00365-9

Ejemplares similares

Epigenetic Small Molecules Rescue Nucleocytoplasmic Transport and DNA Damage Phenotypes in C9ORF72 ALS/FTD
por: Ramic, Melina, et al.
Publicado: (2021)

A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD
por: Esanov, Rustam, et al.
Publicado: (2017)

CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro
por: Meijboom, Katharina E., et al.
Publicado: (2022)

The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD
por: Freibaum, Brian D., et al.
Publicado: (2017)

Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD
por: Schmitz, Alexander, et al.
Publicado: (2021)

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts
por: Tabet, Ricardos, et al.
Publicado: (2018)

Emerging Technologies for Genome-Wide Profiling of DNA Breakage
por: Rybin, Matthew J., et al.
Publicado: (2021)

Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit
por: Sattler, Rita, et al.
Publicado: (2023)

Synaptic dysfunction induced by glycine‐alanine dipeptides in C9orf72‐ALS/FTD is rescued by SV2 replenishment
por: Jensen, Brigid K, et al.
Publicado: (2020)

Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons
por: Sonobe, Yoshifumi, et al.
Publicado: (2023)

Poly‐GP in cerebrospinal fluid links C9orf72‐associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
por: Lehmer, Carina, et al.
Publicado: (2017)

C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation
por: Licata, Nausicaa V, et al.
Publicado: (2021)

CRISPR deletion of the C9ORF72 promoter in ALS/FTD patient motor neurons abolishes production of dipeptide repeat proteins and rescues neurodegeneration
por: Krishnan, Gopinath, et al.
Publicado: (2020)

The conserved multi-functional nuclear protein dss-1/Sem1 is required for C9orf72-associated ALS/FTD dipeptide toxicity
por: Puleo, Noah, et al.
Publicado: (2020)

A mouse model with widespread expression of the C9orf72-linked glycine–arginine dipeptide displays non-lethal ALS/FTD-like phenotypes
por: Verdone, Brandie Morris, et al.
Publicado: (2022)

Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD
por: Mayl, Keith, et al.
Publicado: (2021)

Breakdown of the central synapses in C9orf72-linked ALS/FTD
por: Ghaffari, Layla T., et al.
Publicado: (2022)

Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features
por: Lorenzini, Ileana, et al.
Publicado: (2023)

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion
por: Fong, Jamie C, et al.
Publicado: (2012)

Structure of the C9orf72 Arf GAP complex haploinsufficient in ALS and FTD
por: Su, Ming-Yuan, et al.
Publicado: (2020)

CRISPR interference to evaluate modifiers of C9ORF72-mediated toxicity in FTD
por: Pickles, Sarah, et al.
Publicado: (2023)

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression
por: McGoldrick, Philip, et al.
Publicado: (2018)

A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma
por: Kero, Mia, et al.
Publicado: (2013)

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD
por: Suzuki, Naoki, et al.
Publicado: (2013)

The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD
por: Solje, Eino, et al.
Publicado: (2015)

C9ORF72 and the FTD-ALS spectrum: A systematic review of neuroimaging studies
por: Prado, Laura de Godoy Rousseff, et al.
Publicado: (2015)

Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD
por: Coyne, Alyssa N., et al.
Publicado: (2021)

Hypothesis and Theory: Roles of Arginine Methylation in C9orf72-Mediated ALS and FTD
por: Gill, Anna L., et al.
Publicado: (2021)

Altered Phase Separation and Cellular Impact in C9orf72-Linked ALS/FTD
por: Solomon, Daniel A., et al.
Publicado: (2021)

C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice
por: Lopez-Herdoiza, Maria-Belen, et al.
Publicado: (2023)

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease
por: Sakae, Nobutaka, et al.
Publicado: (2018)

Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD
por: Yuva-Aydemir, Yeliz, et al.
Publicado: (2019)

Targeting RNA G‐quadruplexes as new treatment strategy for C9orf72 ALS/FTD
por: Schludi, Martin H, et al.
Publicado: (2017)

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD
por: Moens, Thomas G., et al.
Publicado: (2018)

RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3
por: Ramesh, Nandini, et al.
Publicado: (2020)

Metformin treatment of the C9orf72 ALS/FTD mouse: Almost too good for words
por: Rosbash, Michael
Publicado: (2020)

C9orf72 and the Care of the Patient With ALS or FTD: Progress and Recommendations After 10 Years
por: Roggenbuck, Jennifer
Publicado: (2020)

Thalamic and Cerebellar Regional Involvement across the ALS–FTD Spectrum and the Effect of C9orf72
por: Bocchetta, Martina, et al.
Publicado: (2022)

An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD
por: Bauer, Claudia S., et al.
Publicado: (2022)

Propranolol reduces the accumulation of cytotoxic aggregates in C9orf72-ALS/FTD in vitro models
por: Seidel, Mira, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_gp7jbgs64rgh70h9rdk5buqega