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Dysregulated molecular pathways in amyotrophic lateral sclerosis–frontotemporal dementia spectrum disorder

The EMBO journal, 2017-10, Vol.36 (20), p.2931-2950

2017

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C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo

Nature neuroscience, 2019-06, Vol.22 (6), p.851

2019

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Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

Neuron (Cambridge, Mass.), 2016-10, Vol.92 (2), p.383-391

2016

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Context-Dependent and Disease-Specific Diversity in Protein Interactions within Stress Granules

Cell, 2018-01, Vol.172 (3), p.590-604.e13

2018

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Ribosome inhibition by C9ORF72-ALS/FTD-associated poly-PR and poly-GR proteins revealed by cryo-EM

Nature communications, 2022-05, Vol.13 (1), p.2776-13, Article 2776

2022

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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

Nature (London), 2015-09, Vol.525 (7567), p.129-133

2015

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TBK1 haploinsufficiency in ALS and FTD compromises membrane trafficking

Acta neuropathologica, 2021-07, Vol.142 (1), p.217-221

2021

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Rethinking Unconventional Translation in Neurodegeneration

Cell, 2017-11, Vol.171 (5), p.994-1000

2017

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Context-dependent functions of specific microRNAs in neuronal development

Neural development, 2010-10, Vol.5 (1), p.25-25

Gao, Fen-Biao

2010

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CRISPR deletion of the C9ORF72 promoter in ALS/FTD patient motor neurons abolishes production of dipeptide repeat proteins and rescues neurodegeneration

Acta neuropathologica, 2020-07, Vol.140 (1), p.81-84

2020

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Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD

Nature communications, 2019-11, Vol.10 (1), p.5466-14, Article 5466

2019

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Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

Neuron (Cambridge, Mass.), 2015-09, Vol.87 (6), p.1207-1214

2015

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Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD

Nature communications, 2022-05, Vol.13 (1), p.2799-2799, Article 2799

2022

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CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation

Neuron (Cambridge, Mass.), 2019-12, Vol.104 (5), p.885-898.e8

2019

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A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation

Nature communications, 2021-10, Vol.12 (1), p.6025-17, Article 6025

2021

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Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia

Nature medicine, 2014-12, Vol.20 (12), p.1444-1451

2014

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MicroRNA-9 Coordinates Proliferation and Migration of Human Embryonic Stem Cell-Derived Neural Progenitors

Cell stem cell, 2010-04, Vol.6 (4), p.323-335

2010

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Rab8, POSH, and TAK1 regulate synaptic growth in a Drosophila model of frontotemporal dementia

The Journal of cell biology, 2015-03, Vol.208 (7), p.931-947

2015

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MicroRNA-9a ensures the precise specification of sensory organ precursors in Drosophila

Genes & development, 2006-10, Vol.20 (20), p.2793-2805

2006

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Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells

Acta neuropathologica, 2019-12, Vol.138 (6), p.1099-1101

2019

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Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons

eLife, 2023-09, Vol.12

2023

Volltextzugriff (PDF)

CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro

Nature communications, 2022-10, Vol.13 (1), p.6286-17, Article 6286

2022

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MicroRNA-9: Functional evolution of a conserved small regulatory RNA

RNA biology, 2011-07, Vol.8 (4), p.557-564

2011

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Evidence that C9ORF72 Dipeptide Repeat Proteins Associate with U2 snRNP to Cause Mis-splicing in ALS/FTD Patients

Cell reports (Cambridge), 2017-06, Vol.19 (11), p.2244-2256

2017

Volltextzugriff (PDF)

Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD

The EMBO journal, 2016-06, Vol.35 (12), p.1251-1253

2016

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Dysregulated molecular pathways in amyotrophic lateral sclerosis–frontotemporal dementia spectrum disorder

C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo

Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

Context-Dependent and Disease-Specific Diversity in Protein Interactions within Stress Granules

Ribosome inhibition by C9ORF72-ALS/FTD-associated poly-PR and poly-GR proteins revealed by cryo-EM

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

TBK1 haploinsufficiency in ALS and FTD compromises membrane trafficking

Rethinking Unconventional Translation in Neurodegeneration

Context-dependent functions of specific microRNAs in neuronal development

CRISPR deletion of the C9ORF72 promoter in ALS/FTD patient motor neurons abolishes production of dipeptide repeat proteins and rescues neurodegeneration

Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD

CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation

A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation

Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia

MicroRNA-9 Coordinates Proliferation and Migration of Human Embryonic Stem Cell-Derived Neural Progenitors

Rab8, POSH, and TAK1 regulate synaptic growth in a Drosophila model of frontotemporal dementia

MicroRNA-9a ensures the precise specification of sensory organ precursors in Drosophila

Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells

Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons

CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro

MicroRNA-9: Functional evolution of a conserved small regulatory RNA

Evidence that C9ORF72 Dipeptide Repeat Proteins Associate with U2 snRNP to Cause Mis-splicing in ALS/FTD Patients

Lost & found: C9ORF72 and the autophagy pathway in ALS/FTD

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