Cargando…

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues

OBJECTIVE: To test for somatic C9orf72 hexanucleotide repeat expansion (HRE) and hexanucleotide repeat length instability in the spinal cord of amyotrophic lateral sclerosis (ALS) cases. METHODS: Whole and partial spinal cords of 19 ALS cases were dissected into transversal sections (5 mm thick). Th...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ross, Jay P., Leblond, Claire S., Catoire, Hélène, Volkening, Kathryn, Strong, Michael, Zinman, Lorne, Robertson, Janice, Dion, Patrick A., Rouleau, Guy A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454309/ https://www.ncbi.nlm.nih.gov/pubmed/31041398 http://dx.doi.org/10.1212/NXG.0000000000000317

Ejemplares similares

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)

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)

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)

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)

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

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

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)

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)

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)

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)

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)

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)

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

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)

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

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)

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

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

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

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)

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)

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

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)

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

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

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)

Young Onset Alzheimer’s Disease Associated with C9ORF72 Hexanucleotide Expansion: Further Evidence for a Still Unsolved Association
por: Vinceti, Giulia, et al.
Publicado: (2023)

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers
por: Viodé, Arthur, et al.
Publicado: (2018)

Cerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion
por: Junttila, Anna, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_laifar82vb82l44md3memcq8km