Cargando…

The RNA exosome complex degrades expanded hexanucleotide repeat RNA in C9orf72 FTLD/ALS

Nucleotide repeat expansions in the C9orf72 gene cause frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Transcribed repeat RNA accumulates within RNA foci and is also translated into toxic dipeptide repeat proteins (DPR). The mechanism of repeat RNA accumulation, how...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kawabe, Yuya, Mori, Kohji, Yamashita, Tomoko, Gotoh, Shiho, Ikeda, Manabu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7527818/ https://www.ncbi.nlm.nih.gov/pubmed/32830871 http://dx.doi.org/10.15252/embj.2019102700

Ejemplares similares

RNA Dysmetabolism and Repeat-Associated Non-AUG Translation in Frontotemporal Lobar Degeneration/Amyotrophic Lateral Sclerosis due to C9orf72 Hexanucleotide Repeat Expansion
por: Mori, Kohji, et al.
Publicado: (2022)

The porphyrin TMPyP4 inhibits elongation during the noncanonical translation of the FTLD/ALS-associated GGGGCC repeat in the C9orf72 gene
por: Mori, Kohji, et al.
Publicado: (2021)

Structural Diversity of Sense and Antisense RNA Hexanucleotide Repeats Associated with ALS and FTLD
por: Božič, Tim, et al.
Publicado: (2020)

The Proline/Arginine Dipeptide from Hexanucleotide Repeat Expanded C9ORF72 Inhibits the Proteasome
por: Gupta, Rahul, et al.
Publicado: (2017)

Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
por: Estevez-Fraga, Carlos, et al.
Publicado: (2021)

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
por: Mok, Kin Y., et al.
Publicado: (2012)

Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion
por: Babić Leko, Mirjana, et al.
Publicado: (2019)

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

C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis
por: Alva-Diaz, Carlos, et al.
Publicado: (2020)

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
por: Fratta, Pietro, et al.
Publicado: (2012)

Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer’s disease
por: Davidson, Yvonne S, et al.
Publicado: (2013)

Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions
por: Cleary, Elaine M., et al.
Publicado: (2016)

Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb
por: Chen, Zhongbo, et al.
Publicado: (2017)

No Association of Multiple Sclerosis with C9orf72 Hexanucleotide Repeat Size in an Austrian Cohort
por: König, Theresa, et al.
Publicado: (2023)

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
por: Gendron, Tania F., et al.
Publicado: (2013)

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features
por: Mahoney, Colin J., et al.
Publicado: (2012)

Knock in of a hexanucleotide repeat expansion in the C9orf72 gene induces ALS in rats
por: Dong, Wei, et al.
Publicado: (2020)

Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila
por: Atilano, Magda L, et al.
Publicado: (2021)

C9orf72 Hexanucleotide Repeat Expansion-Related Neuropathology Is Attenuated by Nasal Rifampicin in Mice
por: Hatanaka, Yukari, et al.
Publicado: (2022)

C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity
por: Kaivola, Karri, et al.
Publicado: (2023)

G-Quadruplex Structures Formed by Expanded Hexanucleotide Repeat RNA and DNA from the Neurodegenerative Disease-Linked C9orf72 Gene Efficiently Sequester and Activate Heme
por: Grigg, Jason C., et al.
Publicado: (2014)

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration
por: May, Stephanie, et al.
Publicado: (2014)

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

The RNA helicase DHX36–G4R1 modulates C9orf72 GGGGCC hexanucleotide repeat–associated translation
por: Tseng, Yi-Ju, et al.
Publicado: (2021)

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat
por: Jones, Ashley R., et al.
Publicado: (2013)

Hexanucleotide Repeat Expansion in C9ORF72 Is Not Detected in the Treatment-Resistant Schizophrenia Patients of Chinese Han
por: Xu, Xijia, et al.
Publicado: (2015)

Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia
por: Batra, Ranjan, et al.
Publicado: (2017)

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues
por: Ross, Jay P., et al.
Publicado: (2019)

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion()
por: Waite, Adrian J., et al.
Publicado: (2014)

Astrocytes and Microglia as Potential Contributors to the Pathogenesis of C9orf72 Repeat Expansion-Associated FTLD and ALS
por: Rostalski, Hannah, et al.
Publicado: (2019)

Topology of a G-quadruplex DNA formed by C9orf72 hexanucleotide repeats associated with ALS and FTD
por: Zhou, Bo, et al.
Publicado: (2015)

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients
por: Prudencio, Mercedes, et al.
Publicado: (2017)

BV-2 Microglial Cells Overexpressing C9orf72 Hexanucleotide Repeat Expansion Produce DPR Proteins and Show Normal Functionality but No RNA Foci
por: Rostalski, Hannah, et al.
Publicado: (2020)

Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits
por: Herranz-Martin, Saul, et al.
Publicado: (2017)

Poly-dipeptides produced from C9orf72 hexanucleotide repeats cause selective motor neuron hyperexcitability in ALS
por: Jo, Yunhee, et al.
Publicado: (2022)

ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion
por: Laaksovirta, Hannu, et al.
Publicado: (2022)

White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations
por: Ameur, Fatima, et al.
Publicado: (2016)

A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD
por: Rollinson, Sara, et al.
Publicado: (2015)

Serum neurofilament light chain in FTLD: association with C9orf72, clinical phenotype, and prognosis
por: Cajanus, Antti, et al.
Publicado: (2020)

A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
por: van der Zee, Julie, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_3eevn09r6le5295vajoafl8epf