Cargando…

Structure of the C9orf72 Arf GAP complex haploinsufficient in ALS and FTD

Mutation of C9ORF72 is the most prevalent defect in amyotrophic lateral sclerosis (ALS) and frontal temporal degeneration (FTD)(1). Together with hexanucleotide repeat expansion(2,3), haploinsufficiency of C9ORF72 contributes to neuronal dysfunction(4–6). We determined the structure of the C9orf72-S...

Descripción completa

Detalles Bibliográficos
Autores principales:	Su, Ming-Yuan, Fromm, Simon A., Zoncu, Roberto, Hurley, James H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054479/ https://www.ncbi.nlm.nih.gov/pubmed/32848248 http://dx.doi.org/10.1038/s41586-020-2633-x

Ejemplares similares

Structural basis for the ARF GAP activity and specificity of the C9orf72 complex
por: Su, Ming-Yuan, et al.
Publicado: (2021)

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)

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)

C9orf72 Toxic Species Affect ArfGAP-1 Function
por: Rossi, Simona, et al.
Publicado: (2023)

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

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)

Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS
por: Kumar, Vijay, 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)

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

Modifiers of C9orf72 DPR toxicity implicate nucleocytoplasmic transport impairments in c9FTD/ALS
por: Jovičić, Ana, et al.
Publicado: (2015)

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

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)

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)

C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels
por: Beckers, Jimmy, et al.
Publicado: (2021)

Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD
por: Wang, Shaopeng, et al.
Publicado: (2021)

Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD
por: Krishnan, Gopinath, et al.
Publicado: (2022)

Glucose Hypometabolism Prompts RAN Translation and Exacerbates C9orf72-related ALS/FTD Phenotypes
por: Nelson, A.T., et al.
Publicado: (2023)

Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation
por: Li, Junhao, et al.
Publicado: (2023)

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD
por: Niblock, Michael, et al.
Publicado: (2016)

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo
por: Simone, Roberto, et al.
Publicado: (2017)

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

C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
por: Braems, Elke, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_p5njeeb2pqcmshq0bcdo9rm8p8