Cargando…

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of a disease spectrum with shared clinical, genetic and pathological features. These include near ubiquitous pathological inclusions of the RNA-binding protein (RBP) TDP-43, and often the presence of a GGGGCC ex...

Descripción completa

Detalles Bibliográficos
Autores principales:	Conlon, Erin G, Fagegaltier, Delphine, Agius, Phaedra, Davis-Porada, Julia, Gregory, James, Hubbard, Isabel, Kang, Kristy, Kim, Duyang, Phatnani, Hemali, Shneider, Neil A, Manley, James L
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	eLife Sciences Publications, Ltd 2018
Materias:	Biochemistry and Chemical Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103746/ https://www.ncbi.nlm.nih.gov/pubmed/30003873 http://dx.doi.org/10.7554/eLife.37754

Ejemplares similares

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains
por: Conlon, Erin G, et al.
Publicado: (2016)

Multiple pathways of toxicity induced by C9orf72 dipeptide repeat aggregates and G(4)C(2) RNA in a cellular model
por: Frottin, Frédéric, et al.
Publicado: (2021)

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

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

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)

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

C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor
por: Iyer, Shalini, et al.
Publicado: (2018)

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

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

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

Widespread intron retention impairs protein homeostasis in C9orf72 ALS brains
por: Wang, Qingqing, et al.
Publicado: (2020)

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)

Genetic screening in sporadic ALS and FTD
por: Turner, Martin R, et al.
Publicado: (2017)

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

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)

Translation inhibitory elements from Hoxa3 and Hoxa11 mRNAs use uORFs for translation inhibition
por: Alghoul, Fatima, et al.
Publicado: (2021)

Comprehensive substrate specificity profiling of the human Nek kinome reveals unexpected signaling outputs
por: van de Kooij, Bert, et al.
Publicado: (2019)

Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective
por: Fernandes, Stephanie A., et al.
Publicado: (2013)

Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS
por: Kumar, Vijay, et al.
Publicado: (2017)

Targeting RNA-Mediated Toxicity in C9orf72 ALS and/or FTD by RNAi-Based Gene Therapy
por: Martier, Raygene, et al.
Publicado: (2019)

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

Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies
por: Balendra, Rubika, et al.
Publicado: (2017)

The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy
por: Ho, Wan Yun, et al.
Publicado: (2019)

Divergence, Convergence, and Therapeutic Implications: A Cell Biology Perspective of C9ORF72-ALS/FTD
por: Tang, Xiaoqiang, et al.
Publicado: (2020)

Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72
por: Laflamme, Carl, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_60t8ehj7unukqld6rkcc13amu1