Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion (Q37706316)

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scientific article published on 17 January 2014

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English	Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion	scientific article published on 17 January 2014

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8 March 2020

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion (English)

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8 March 2020

amyotrophic lateral sclerosis

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Dirk Bäumer

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Simon East

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James Neal

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Olaf Ansorge

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Derek J Blake

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17 January 2014

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Neurobiology of Aging

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1779.e5-1779.e13

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8 March 2020

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

1 reference

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

1 reference

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

1 reference

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

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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

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

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23 August 2017

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

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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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Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

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Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

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

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

1 reference

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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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Dystrophic neurites express C9orf72 in Alzheimer's disease brains.

1 reference

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23 August 2017

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

1 reference

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23 August 2017

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

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Repeat expansion in C9ORF72 in Alzheimer's disease

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23 August 2017

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

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

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Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

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Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease

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

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Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

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1 September 2018

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

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1 September 2018

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1 September 2018

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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1 September 2018

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

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Identifiers

10.1016/J.NEUROBIOLAGING.2014.01.016

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8 March 2020

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8 March 2020

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8 March 2020

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