The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients (Q48310101)

10 February 2018

title

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients (English)

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10 February 2018

amyotrophic lateral sclerosis

main subject

patient

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6

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Daniela Galimberti

16

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Elisa Rubino

Elisa Rubino

14

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Benedetta Nacmias

Benedetta Nacmias

10

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Sandro Sorbi

Sandro Sorbi

11

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Ekaterina Rogaeva

26

Ekaterina Rogaeva

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17

Ezequiel I Surace

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Janice L Robertson

25

Janice Robertson

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Innocenzo Rainero

13

Innocenzo Rainero

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Maria Carmela Tartaglia

12

Maria Carmela Tartaglia

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Philip McGoldrick

18

Philip McGoldrick

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Paul McKeever

19

Paul McKeever

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Christine Sato

21

Christine Sato

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Amalia Bruni

3

Amalia C Bruni

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Rosanna Colao

5

Rosanna Colao

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Lorenzo Pinessi

15

Lorenzo Pinessi

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Mary G. Sweeney

8

Mary G Sweeney

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Raffaele Maletta

4

Raffaele G Maletta

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author name string

Zhengrui Xi

1

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Ming Zhang

2

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James M Polke

7

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Ese Mudanohwo

9

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Danielle Moreno

20

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Yan Liang

22

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Julia Keith

23

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Lorne Zinman

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publication date

26 February 2015

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10 February 2018

published in

Acta Neuropathologica

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10 February 2018

volume

129

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issue

5

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page(s)

715-727

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The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

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Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

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Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

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

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C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

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Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

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DNA secondary structures and epigenetic determinants of cancer genome evolution

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

21 January 2018

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

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FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

21 January 2018

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

21 January 2018

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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

21 January 2018

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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

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Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

21 January 2018

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Guanine quadruplex DNA structure restricts methylation of CpG dinucleotides genome-wide.

21 January 2018

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Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

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

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

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The role of DNA methylation in mammalian epigenetics

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Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP

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Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

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MethPrimer: designing primers for methylation PCRs

21 January 2018

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C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

21 January 2018

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Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

21 January 2018

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C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

21 January 2018

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Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

21 January 2018

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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

21 January 2018

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A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome

21 January 2018

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Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

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Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

21 January 2018

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C9orf72 repeat expansions in patients with ALS and FTD.

21 January 2018

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The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures

21 January 2018

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

21 January 2018

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Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

21 January 2018

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DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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10.1007/S00401-015-1401-8

21 January 2018

Identifiers

DOI

1 reference

10 February 2018

1 reference

10 February 2018