Cargando…

Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci

OBJECTIVE: To determine whether GGGGCC (G(4)C(2)) repeat expansions at loci other than C9orf72 serve as common causes of amyotrophic lateral sclerosis (ALS). METHODS: We assessed G(4)C(2) repeat number in 28 genes near known ALS and frontotemporal dementia (FTD) loci by repeat-primed PCR coupled wit...

Descripción completa

Detalles Bibliográficos
Autores principales:	He, Fang, Jones, Julie M., Figueroa-Romero, Claudia, Zhang, Dapeng, Feldman, Eva L., Goutman, Stephen A., Meisler, Miriam H., Callaghan, Brian C., Todd, Peter K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4865132/ https://www.ncbi.nlm.nih.gov/pubmed/27274540 http://dx.doi.org/10.1212/NXG.0000000000000071

Ejemplares similares

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

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
por: Lee, Youn-Bok, et al.
Publicado: (2013)

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)

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)

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

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)

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

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

The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD
por: He, Fang, et al.
Publicado: (2020)

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

Examining the language and behavioural profile in FTD and ALS-FTD
por: Saxon, Jennifer A, et al.
Publicado: (2017)

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

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)

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)

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)

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

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

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

Motor Neuron Susceptibility in ALS/FTD
por: Ragagnin, Audrey M. G., et al.
Publicado: (2019)

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)

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

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)

A familial FTD associated with C9orf72 repeat expansion and dysplastic gangliocytoma
por: Kero, Mia, et al.
Publicado: (2013)

Inflammation in ALS/FTD pathogenesis
por: McCauley, Madelyn E., et al.
Publicado: (2018)

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)

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

Supramolecular Polymorphism of (G(4)C(2))(n) Repeats Associated with ALS and FTD
por: Potrč, Melani, et al.
Publicado: (2021)

Environmental Risk Factors and Amyotrophic Lateral Sclerosis (ALS): A Case-Control Study of ALS in Michigan
por: Yu, Yu, et al.
Publicado: (2014)

Expanding the Spectrum of Movement Disorders Associated With C9orf72 Hexanucleotide Expansions
por: Estevez-Fraga, Carlos, 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)

Cannot write session to /tmp/vufind_sessions/sess_uhdeatb16mmo6869k4be2kagpn