C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.
about
There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALSPhenotypic Heterogeneity of Monogenic Frontotemporal DementiaRAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disordersModeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells.RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosisLoss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB SignalingRNA metabolism in neurodegenerative disease.A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTDCell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine.The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis.C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence.Bromodomain inhibitors regulate the C9ORF72 locus in ALSWhole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degenerationDistribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencingEmerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.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 substitutionNeurodegeneration 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 RNAsMarked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.Opening up the DNA methylome of dementiaPrevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review.Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells.Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.ALS and FTD: an epigenetic perspective.R Loops and Links to Human Disease.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease.The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis.
P2860
Q26750577-78FB8BA7-4378-4AF0-93F8-3CC442A5EC8FQ26782984-66BDA5F6-CC88-4C81-A6F9-05FBF0F03924Q26823908-A4135D96-1E25-4CC5-A24B-097D01BD48DDQ27687330-78FD1519-809A-47B6-84AA-4A1F76B93A08Q28082520-4C7A8E95-64FB-4A2E-AC76-33DDE4055B6DQ29465544-C4AB0C3F-9A96-40F0-81E7-180CF9B1CAC7Q33746283-4D51B375-B060-4FC5-B1C3-C17D71CC5483Q33791480-6CDEFE08-DF98-4B14-A264-AAF3EE13B75CQ33915834-C1CBB00D-DA09-48EB-85F2-9B6592B01BD6Q34157304-35813B0B-1DBE-4A80-A1B2-3470CAE7A25FQ34194063-381BCB6A-7B70-4ABE-9646-6134F6DA98F3Q34810486-36C98B1B-B6FF-4E92-8C9A-7B68B4FA2F75Q35204586-57AEE89A-D60E-4F2F-996B-2D47DDC3A640Q35501931-05E11C15-9CF3-4059-A33B-F1D629859534Q35537493-7C86C37B-72D0-47D0-99D3-D358140D74C5Q35670978-C75FA71D-6736-4CE0-846C-133263090A02Q35752114-707C2A84-75DA-4F87-8235-27AE39522C04Q35985592-BD565CA6-E221-42B8-BC5F-B4476877BD8CQ36073675-3532A756-82BE-42DC-924A-00546F19E3CAQ36187621-F6AFF386-2621-4D11-8629-0EA253C9B2EEQ36304922-331405D6-991F-499F-ABBF-0000BC44E890Q36600364-BDEC2312-3195-4573-9ABE-FC37B681EFDCQ36676565-B2AAE36D-1A02-400D-BC73-9E9A22E65296Q36676726-F391EFF4-F625-40FD-AB72-099A85241CD4Q36799853-DF5375D1-5F0B-4617-BA83-98961964F548Q36880235-502F6183-E727-493A-ADDB-273B7053D7F6Q37410193-FD0C8DE3-9558-4BA3-96E6-B190BF2EA00AQ37476206-648AB896-3122-44F5-8E78-869BB341FC84Q37736146-6A1F0A55-5B7A-4116-82B0-1340790BD24BQ38587477-7A08CE21-D409-4CF6-BD61-38C22360E044Q38624666-C94709B3-A1C2-4CA8-A49D-F9279744B6CCQ38741408-CF3D42BF-82C2-4EC2-A9AF-EB7AD5D48409Q38789426-22E4B4C9-CD79-4EF6-8447-A1F830AFA812Q38860456-56317761-5734-4905-8C7E-3BEBB6C43055Q38947687-D51595C2-8111-40EF-87B3-29BF9F266F44Q38952327-1CD7E7B8-E637-473B-B426-EDC03EAEAC91Q39165154-9204B145-83FA-41C2-8D9C-B4C4031C039DQ40415783-7DE118B1-9FE2-4B38-9A28-8C823CDEF57CQ40535548-A4FCF6D5-21C8-47C3-A53D-D9DC304F53C1Q40737530-5D75D7AD-18CE-4039-A104-FF693EFFEE9D
P2860
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@ast
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@en
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@nl
type
label
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@ast
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@en
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@nl
prefLabel
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@ast
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@en
C9orf72 hypermethylation prote ...... sociated pathology in ALS/FTD.
@nl
P2093
P2860
P1476
C9orf72 hypermethylation prote ...... ssociated pathology in ALS/FTD
@en
P2093
Anna G McNally
David J Irwin
Donald Neal
Edward B Lee
Elaine Y Liu
Eunran Suh
Kathryn Wu
Vivianna M Van Deerlin
P2860
P2888
P304
P356
10.1007/S00401-014-1286-Y
P50
P577
2014-05-08T00:00:00Z