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Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

Cell reports (Cambridge), 2013-12, Vol.5 (5), p.1178-1186

2013

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Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

Nature neuroscience, 2011-04, Vol.14 (4), p.452-458

2011

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Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

Journal of cell science, 2014-03, Vol.127 (Pt 6), p.1263-1278

2014

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The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Brain (London, England : 1878), 2016-05, Vol.139 (Pt 5), p.1417-1432

2016

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Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

Frontiers in cellular neuroscience, 2021-06, Vol.15, p.660693-660693

2021

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Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations

PloS one, 2013-10, Vol.8 (10), p.e76055-e76055

2013

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ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

Human molecular genetics, 2013-07, Vol.22 (13), p.2676-2688

2013

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Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Science (American Association for the Advancement of Science), 2009-02, Vol.323 (5918), p.1208-1211

2009

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C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Human molecular genetics, 2017-12, Vol.26 (24), p.4765-4777

2017

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FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

Cell reports (Cambridge), 2012-10, Vol.2 (4), p.799-806

2012

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Editorial: Molecular mechanisms underlying C9orf72 neurodegeneration, volume II

Frontiers in cellular neuroscience, 2024-01, Vol.17, p.1357319-1357319

2024

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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

American journal of human genetics, 2004-11, Vol.75 (5), p.822-831

2004

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Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

PloS one, 2014-03, Vol.9 (3), p.e91269

2014

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Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1763-1771

2010

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Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling

Genes, 2023-05, Vol.14 (5), p.1108

2023

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Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

Stem cell research, 2021-04, Vol.52, p.102246-102246, Article 102246

2021

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Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons

Stem cell reports, 2024-02, Vol.19 (2), p.187-195

2024

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Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Acta neuropathologica, 2011-04, Vol.121 (4), p.519-527

2011

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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay

Neurobiology of aging, 2021-10, Vol.106, p.1-6

2021

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C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Human molecular genetics, 2021-04, Vol.30 (3-4), p.318-320

2021

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Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy

Proceedings of the National Academy of Sciences - PNAS, 2013-03, Vol.110 (12), p.4697-4702

2013

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Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta-analysis

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-01, Vol.153B (1), p.235-242

2010

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The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine

Stem cells international, 2016-01, Vol.2016 (2016), p.1-9

2016

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Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

Editorial: Molecular mechanisms underlying C9orf72 neurodegeneration, volume II

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy

Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta-analysis

The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine

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