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Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

Neuron (Cambridge, Mass.), 2014-12, Vol.84 (6), p.1213-1225

2014

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HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy

The EMBO journal, 2010-03, Vol.29 (5), p.969-980

2010

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Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder

Neural regeneration research, 2024-11, Vol.19 (11), p.2377-2386

2024

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NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility

Nature communications, 2022-06, Vol.13 (1), p.3380-17, Article 3380

2022

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Mutations in TGM6 induce the unfolded protein response in SCA35

Human molecular genetics, 2017-10, Vol.26 (19), p.3749-3762

2017

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Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo

Neurobiology of disease, 2020-12, Vol.146, p.105078-105078, Article 105078

2020

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Huntingtin-mediated axonal transport requires arginine methylation by PRMT6

Cell reports (Cambridge), 2021-04, Vol.35 (2), p.108980-108980, Article 108980

2021

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Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome

PLoS genetics, 2010-12, Vol.6 (12), p.e1001240

2010

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RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43

Neuron (Cambridge, Mass.), 2019-04, Vol.102 (2), p.321-338.e8

2019

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Methods to assay Drosophila behavior

Journal of visualized experiments, 2012-03 (61)

2012

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Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway

Nature neuroscience, 2021-08, Vol.24 (8), p.1077-1088

2021

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Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity

Neuron (Cambridge, Mass.), 2020-04, Vol.106 (1), p.90-107.e13

2020

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Pathogenic variants of Valosin‐containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells

Neuropathology and applied neurobiology, 2022-08, Vol.48 (5), p.e12818-n/a

2022

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Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import

Science advances, 2023-08, Vol.9 (33), p.eadi5548

2023

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CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology

Science advances, 2023-11, Vol.9 (45), p.eadf7997-eadf7997

2023

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Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function

Science advances, 2023-01, Vol.9 (1), p.eade1694

2023

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Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense Mediated Decay as Modifiers of ALS C9orf72 Toxicity

Neuron (Cambridge, Mass.), 2020-02, Vol.106 (1), p.90-107.e13

2020

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Antisense Proline-Arginine RAN Dipeptides Linked toC9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

Neuron (Cambridge, Mass.), 2014-12, Vol.84 (6), p.1213

2014

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Methods to Assay Drosophila Behavior

Journal of visualized experiments, 2012-03 (61)

2012

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Histone Deacetylases Suppress CGG Repeat-Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome: e1001240

PLoS genetics, 2010-12, Vol.6 (12)

2010

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Drosophila lines with mutant and wild type human TDP-43 replacing the endogenous gene reveals phosphorylation and ubiquitination in mutant lines in the absence of viability or lifespan defects

PloS one, 2017-07, Vol.12 (7), p.e0180828

2017

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A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene

PloS one, 2013-04, Vol.8 (4), p.e61074-e61074

2013

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In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities

PloS one, 2012-11, Vol.7 (11), p.e48733-e48733

2012

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Fractal characterizations of MeV ion treated CaF2 thin films

Chaos (Woodbury, N.Y.), 2023-03, Vol.33 (3)

2023

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A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43

Human molecular genetics, 2011-07, Vol.20 (13), p.2510-2523

2011

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Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy

Function and dysfunction of GEMIN5: understanding a novel neurodevelopmental disorder

NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility

Mutations in TGM6 induce the unfolded protein response in SCA35

Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo

Huntingtin-mediated axonal transport requires arginine methylation by PRMT6

Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome

RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43

Methods to assay Drosophila behavior

Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway

Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense-Mediated Decay as Modifiers of ALS/FTD C9orf72 Toxicity

Pathogenic variants of Valosin‐containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells

Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import

CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology

Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function

Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense Mediated Decay as Modifiers of ALS C9orf72 Toxicity

Antisense Proline-Arginine RAN Dipeptides Linked toC9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

Methods to Assay Drosophila Behavior

Histone Deacetylases Suppress CGG Repeat-Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome: e1001240

Drosophila lines with mutant and wild type human TDP-43 replacing the endogenous gene reveals phosphorylation and ubiquitination in mutant lines in the absence of viability or lifespan defects

A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene

In a model of Batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities

Fractal characterizations of MeV ion treated CaF2 thin films

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43

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