Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. - Wikidata - awgldk - TriplyDB

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

http://www.wikidata.org/entity/Q36304922

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Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death Intrinsic disorder in proteins involved in amyotrophic lateral sclerosis.Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers.Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.Genetics of FTLD: overview and what else we can expect from genetic studies.Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.ALS and FTD: an epigenetic perspective.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.RNA Misprocessing in C9orf72-Linked Neurodegeneration.C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy.C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.Biological Spectrum of Amyotrophic Lateral Sclerosis Prions.Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis.Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

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Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

http://www.wikidata.org/entity/Q36304922

description

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2015年の論文

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2015年学术文章

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Novel clinical associations wi ...... repeat expansions in C9ORF72.

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Novel clinical associations wi ...... repeat expansions in C9ORF72.

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Novel clinical associations wi ...... repeat expansions in C9ORF72.

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Novel clinical associations wi ...... repeat expansions in C9ORF72.

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Novel clinical associations wi ...... repeat expansions in C9ORF72.

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Novel clinical associations wi ...... repeat expansions in C9ORF72.

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Acta Neuropathologica

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Novel clinical associations wi ...... repeat expansions in C9ORF72.

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Bradley F Boeve

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Dennis W Dickson

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Jie Jiang

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Joseph E Parisi

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Keith A Josephs

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Kevin B Boylan

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Lillian M Daughrity

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Matthew C Baker

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Michael G Heckman

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Neill R Graff-Radford

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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

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 C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

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

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

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

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

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.

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6

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130

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Rosa Rademakers

Marka van Blitterswijk

Clotilde Lagier-Tourenne

Mariely DeJesus-Hernandez

Melissa E. Murray

Don W Cleveland

Ronald C. Petersen

Leonard Petrucelli

David S Knopman

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2015-10-05T00:00:00Z

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