C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. - Wikidata - wikimedia - TriplyDB

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

http://www.wikidata.org/entity/Q37476206

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Inside out: the role of nucleocytoplasmic transport in ALS and FTLD There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration Mutant TDP-43 within motor neurons drives disease onset but not progression in amyotrophic lateral sclerosis.Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs Nucleocytoplasmic transport in C9orf72-mediated ALS/FTD.Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.The Proline/Arginine Dipeptide from Hexanucleotide Repeat Expanded C9ORF72 Inhibits the Proteasome Mutant Huntingtin Disrupts the Nuclear Pore Complex.Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons.Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.Nuclear trafficking in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.Decoding ALS: from genes to mechanism.The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD.New developments in RAN translation: insights from multiple diseases.The roles of the nuclear pore complex in cellular dysfunction, aging and disease.Energy Homeostasis and Abnormal RNA Metabolism in Amyotrophic Lateral Sclerosis RNA Misprocessing in C9orf72-Linked Neurodegeneration.C9orf72 expansion disrupts ATM-mediated chromosomal break repair.Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.Failure to Deliver and Translate-New Insights into RNA Dysregulation in ALS.Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD.C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.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.TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD.A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response.RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases.Non-AUG translation: a new start for protein synthesis in eukaryotes.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.MIF inhibits the formation and toxicity of misfolded SOD1 amyloid aggregates: implications for familial ALS.C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation.Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.

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C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.

http://www.wikidata.org/entity/Q37476206

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 21 March 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

C9ORF72 poly

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C9ORF72 poly(GA) aggregates se ...... ytoplasmic transport proteins.

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type

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C9ORF72 poly

@nl

C9ORF72 poly(GA) aggregates se ...... ytoplasmic transport proteins.

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prefLabel

C9ORF72 poly

@nl

C9ORF72 poly(GA) aggregates se ...... ytoplasmic transport proteins.

@en

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Nature Neuroscience

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C9ORF72 poly(GA) aggregates se ...... ytoplasmic transport proteins.

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Aishe Kurti

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Amanda M Liesinger

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Chad A Dickey

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Christopher D Link

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Emilie A Perkerson

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Guojun Bu

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Hiroki Sasaguri

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Jeannette N Stankowski

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Jeannie Chew

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Jeffrey D Rothstein

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P2860

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

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

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

Involvement of nucleotide excision and mismatch repair mechanisms in double strand break repair

A novel regulation mechanism of DNA repair by damage-induced and RAD23-dependent stabilization of xeroderma pigmentosum group C protein

Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

Viral transduction of the neonatal brain delivers controllable genetic mosaicism for visualising and manipulating neuronal circuits in vivo.

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2016-03-21T00:00:00Z

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