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Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

Neuron (Cambridge, Mass.), 2013-08, Vol.79 (3), p.416-438

2013

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Central nervous system cholesterol metabolism in health and disease

IUBMB life, 2022-08, Vol.74 (8), p.826-841

2022

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Cholesterol dyshomeostasis in amyotrophic lateral sclerosis: cause, consequence, or epiphenomenon?

The FEBS journal, 2022-12, Vol.289 (24), p.7688-7709

2022

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Synaptic Paths to Neurodegeneration: The Emerging Role of TDP-43 and FUS in Synaptic Functions

Neural plasticity, 2018-01, Vol.2018, p.8413496-13

2018

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Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

Nature neuroscience, 2011-04, Vol.14 (4), p.459-468

2011

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Translational profiling identifies a cascade of damage initiated in motor neurons and spreading to glia in mutant SOD1-mediated ALS

Proceedings of the National Academy of Sciences - PNAS, 2015-12, Vol.112 (50), p.E6993-E7002

2015

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A degradative to secretory autophagy switch mediates mitochondria clearance in the absence of the mATG8-conjugation machinery

Nature communications, 2022-06, Vol.13 (1), p.3720-3720, Article 3720

2022

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ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

Proceedings of the National Academy of Sciences - PNAS, 2010-07, Vol.107 (30), p.13318-13323

2010

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

Proceedings of the National Academy of Sciences - PNAS, 2013-11, Vol.110 (47), p.E4530-E4539

2013

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Cell-autonomous requirement of TDP-43, an ALS/FTD signature protein, for oligodendrocyte survival and myelination

Proceedings of the National Academy of Sciences - PNAS, 2018-11, Vol.115 (46), p.E10941-E10950

2018

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ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

Proceedings of the National Academy of Sciences - PNAS, 2013-02, Vol.110 (8), p.E736-E745

2013

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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

Acta neuropathologica, 2018-09, Vol.136 (3), p.425-443

2018

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Loss of TDP-43 in astrocytes leads to motor deficits by triggering A1-like reactive phenotype and triglial dysfunction

Proceedings of the National Academy of Sciences - PNAS, 2020-11, Vol.117 (46), p.29101-29112

2020

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Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy

Neuron (Cambridge, Mass.), 2014-04, Vol.82 (2), p.295-307

2014

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TDP-43 mediates SREBF2-regulated gene expression required for oligodendrocyte myelination

The Journal of cell biology, 2021-09, Vol.220 (9), p.1

2021

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TDP-43 maximizes nerve conduction velocity by repressing a cryptic exon for paranodal junction assembly in Schwann cells

eLife, 2021-03, Vol.10

2021

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Deciphering lipid dysregulation in ALS: from mechanisms to translational medicine

Translational neurodegeneration, 2022-11, Vol.11 (1), p.1-48, Article 48

2022

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Fused in Sarcoma (FUS) Protein Lacking Nuclear Localization Signal (NLS) and Major RNA Binding Motifs Triggers Proteinopathy and Severe Motor Phenotype in Transgenic Mice

The Journal of biological chemistry, 2013-08, Vol.288 (35), p.25266-25274

2013

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Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis

Acta neuropathologica communications, 2020-09, Vol.8 (1), p.1-155, Article 155

2020

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Microtubule binding by dynactin is required for microtubule organization but not cargo transport

The Journal of cell biology, 2007-02, Vol.176 (5), p.641-651

2007

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Dysfunction in nonsense-mediated decay, protein homeostasis, mitochondrial function, and brain connectivity in ALS-FUS mice with cognitive deficits

Acta neuropathologica communications, 2021-01, Vol.9 (1), p.9-24, Article 9

2021

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Elevated FUS levels by overriding its autoregulation produce gain-of-toxicity properties that disrupt protein and RNA homeostasis

Autophagy, 2019-09, Vol.15 (9), p.1665-1667

2019

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Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

Central nervous system cholesterol metabolism in health and disease

Cholesterol dyshomeostasis in amyotrophic lateral sclerosis: cause, consequence, or epiphenomenon?

Synaptic Paths to Neurodegeneration: The Emerging Role of TDP-43 and FUS in Synaptic Functions

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

Translational profiling identifies a cascade of damage initiated in motor neurons and spreading to glia in mutant SOD1-mediated ALS

A degradative to secretory autophagy switch mediates mitochondria clearance in the absence of the mATG8-conjugation machinery

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

Cell-autonomous requirement of TDP-43, an ALS/FTD signature protein, for oligodendrocyte survival and myelination

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

Loss of TDP-43 in astrocytes leads to motor deficits by triggering A1-like reactive phenotype and triglial dysfunction

Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis

TDP-43 mediates SREBF2-regulated gene expression required for oligodendrocyte myelination

TDP-43 maximizes nerve conduction velocity by repressing a cryptic exon for paranodal junction assembly in Schwann cells

Deciphering lipid dysregulation in ALS: from mechanisms to translational medicine

Fused in Sarcoma (FUS) Protein Lacking Nuclear Localization Signal (NLS) and Major RNA Binding Motifs Triggers Proteinopathy and Severe Motor Phenotype in Transgenic Mice

Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis

Microtubule binding by dynactin is required for microtubule organization but not cargo transport

Dysfunction in nonsense-mediated decay, protein homeostasis, mitochondrial function, and brain connectivity in ALS-FUS mice with cognitive deficits

Elevated FUS levels by overriding its autoregulation produce gain-of-toxicity properties that disrupt protein and RNA homeostasis

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