Cargando…

Knock in of a hexanucleotide repeat expansion in the C9orf72 gene induces ALS in rats

BACKGROUND: The GGGGCC (G4C2) repeat expansion in the human open reading frame 72 on chromosome 9, C9orf72, is the most common cause of amyotrophic lateral sclerosis (ALS). Studies in transgenic mouse models have linked the pathogenic mechanism of G4C2 repeat expansion to RNA foci or the accumulatio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Dong, Wei, Zhang, Li, Sun, Caixian, Gao, Xiang, Guan, Feifei, Li, Jing, Chen, Wei, Ma, Yuanwu, Zhang, Lianfeng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7529333/ https://www.ncbi.nlm.nih.gov/pubmed/33024945 http://dx.doi.org/10.1002/ame2.12129

Ejemplares similares

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

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

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion
por: Fong, Jamie C, 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)

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

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)

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

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)

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins
por: Abo-Rady, Masin, et al.
Publicado: (2020)

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

Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia
por: Batra, Ranjan, 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)

The RNA exosome complex degrades expanded hexanucleotide repeat RNA in C9orf72 FTLD/ALS
por: Kawabe, Yuya, et al.
Publicado: (2020)

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)

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)

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)

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

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

Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report
por: Xue, Yan‐Yan, et al.
Publicado: (2021)

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)

Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report
por: Gramaglia, Carla, et al.
Publicado: (2014)

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort
por: Esselin, Florence, et al.
Publicado: (2020)

Altered Blood–Brain Barrier Dynamics in the C9orf72 Hexanucleotide Repeat Expansion Mouse Model of Amyotrophic Lateral Sclerosis
por: Pan, Yijun, et al.
Publicado: (2022)

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

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

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

Accumulation of dipeptide repeat proteins predates that of TDP‐43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene
por: Baborie, Atik, et al.
Publicado: (2015)

Biomarkers for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated With Hexanucleotide Expansion Mutations in C9orf72
por: Floeter, Mary Kay, et al.
Publicado: (2018)

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
por: Majounie, Elisa, et al.
Publicado: (2012)

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

Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion
por: Nishimura, Agnes L., et al.
Publicado: (2021)

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)

Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population
por: Kaivola, Karri, et al.
Publicado: (2020)

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS
por: Iacoangeli, Alfredo, et al.
Publicado: (2019)

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)

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)

Cannot write session to /tmp/vufind_sessions/sess_mqtspn0fllsigpj359o6gb23g6