Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients. (Q48726618)

15 February 2018

title

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients. (English)

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15 February 2018

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3

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Daniela Galimberti

9

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Yonglan Zheng

Yonglan Zheng

11

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Benedetta Nacmias

Benedetta Nacmias

7

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Sandro Sorbi

Sandro Sorbi

Peter Henry St George-Hyslop

8

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Peter St George-Hyslop

19

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Ekaterina Rogaeva

20

Ekaterina Rogaeva

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Lorne Zinman

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Amalia Bruni

5

Amalia C Bruni

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Innocenzo Rainero

2

Innocenzo Rainero

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Lorenzo Pinessi

4

Lorenzo Pinessi

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Janice L Robertson

16

Janice Robertson

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Christine Sato

13

Christine Sato

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Maria Carmela Tartaglia

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Maria Carmela Tartaglia

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Ezequiel I Surace

10

Ezequiel I Surace

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Danielle Moreno

12

Danielle Moreno

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Raffaele Maletta

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Raffaele G Maletta

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author name string

Zhengrui Xi

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Yan Liang

14

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Ye Zhou

15

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publication date

6 June 2014

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15 February 2018

published in

Human Molecular Genetics

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volume

23

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issue

21

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page(s)

5630-5637

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Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

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

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

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

21 January 2018

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

21 January 2018

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

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Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

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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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FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

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DNA methylation represses FMR-1 transcription in fragile X syndrome

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

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

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

21 January 2018

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Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.

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

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Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

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Investigation of c9orf72 in 4 neurodegenerative disorders

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In vivo control of CpG and non-CpG DNA methylation by DNA methyltransferases

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Hairpin-bisulfite PCR: assessing epigenetic methylation patterns on complementary strands of individual DNA molecules.

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DNA hypomethylation and hemimethylation in cancer

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DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

21 January 2018

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C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

21 January 2018

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

21 January 2018

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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

21 January 2018

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Linking DNA methylation and histone modification: patterns and paradigms

21 January 2018

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Epigenetics and aging: the targets and the marks

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDU279

1 reference

15 February 2018

PubMed ID

24908669

1 reference

15 February 2018