The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients. - Wikidata - awgldk - TriplyDB

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

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Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD CpG and Non-CpG Methylation in Epigenetic Gene Regulation and Brain Function Bromodomain inhibitors regulate the C9ORF72 locus in ALS Quadruplex formation by both G-rich and C-rich DNA strands of the C9orf72 (GGGGCC)8•(GGCCCC)8 repeat: effect of CpG methylation.Solution structure of a DNA quadruplex containing ALS and FTD related GGGGCC repeat stabilized by 8-bromodeoxyguanosine substitution Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins.Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.Opening up the DNA methylome of dementia Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders.A retrospective review of the progress in amyotrophic lateral sclerosis drug discovery over the last decade and a look at the latest strategies.Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.ALS and FTD: an epigenetic perspective.Motoneuron Disease: Basic Science.C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients Axonal Degeneration during Aging and Its Functional Role in Neurodegenerative Disorders Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.RNA biology of disease-associated microsatellite repeat expansions.Jump from pre-mutation to pathologic expansion in C9orf72.Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.Antisense oligonucleotides: the next frontier for treatment of neurological disorders.Epigenetics and DNA methylomic profiling in Alzheimer's disease and other neurodegenerative diseases.Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies.C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.A comparative bioinformatic analysis of C9orf72.Epigenetic Mechanisms of Gene Regulation in Amyotrophic Lateral Sclerosis.The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis.Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

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The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

http://www.wikidata.org/entity/Q48310101

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2015 nî lūn-bûn

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2015年の論文

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name

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

@en

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

@nl

type

label

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

@en

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

@nl

prefLabel

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

@en

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

@nl

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S00401-015-1401-8

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Acta Neuropathologica

P1476

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

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P2093

Amalia C Bruni

http://www.w3.org/2001/XMLSchema#string

Christine Sato

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Danielle Moreno

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Ese Mudanohwo

http://www.w3.org/2001/XMLSchema#string

Ezequiel I Surace

http://www.w3.org/2001/XMLSchema#string

Innocenzo Rainero

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James M Polke

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Janice Robertson

http://www.w3.org/2001/XMLSchema#string

Julia Keith

http://www.w3.org/2001/XMLSchema#string

Lorenzo Pinessi

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P2860

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

The role of DNA methylation in mammalian epigenetics

MethPrimer: designing primers for methylation PCRs

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease.

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s00401-015-1401-8

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715-727

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10.1007/S00401-015-1401-8

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5

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129

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Ekaterina Rogaeva

Benedetta Nacmias

Daniela Galimberti

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2015-02-26T00:00:00Z

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25716178

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amyotrophic lateral sclerosis