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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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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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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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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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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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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Science (American Association for the Advancement of Science), 2008-03, Vol.319 (5870), p.1668-1672

2008

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Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

Proceedings of the National Academy of Sciences - PNAS, 2012-04, Vol.109 (15), p.5803-5808

2012

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Cytoplasmic TDP-43 is involved in cell fate during stress recovery

Human molecular genetics, 2021-12, Vol.31 (2), p.166-175

2021

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ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

Proceedings of the National Academy of Sciences - PNAS, 2020-06, Vol.117 (26), p.15230-15241

2020

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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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Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content

Human molecular genetics, 2007-11, Vol.16 (22), p.2720-2728

2007

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Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

Human molecular genetics, 2013-04, Vol.22 (8), p.1539-1557

2013

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ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS

Neurology, 2018-10, Vol.91 (15), p.e1370

2018

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VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

Human molecular genetics, 2012-03, Vol.21 (6), p.1299-1311

2012

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Neurofilament Heavy Chain Side Arm Phosphorylation Regulates Axonal Transport of Neurofilaments

The Journal of cell biology, 2003-05, Vol.161 (3), p.489-495

2003

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Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

Journal of neurology, neurosurgery and psychiatry, 2019-03, Vol.90 (3), p.268

2019

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A clinical tool for predicting survival in ALS

Journal of neurology, neurosurgery and psychiatry, 2016-12, Vol.87 (12), p.1361-1367

2016

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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Nature genetics, 2009-10, Vol.41 (10), p.1088-1093

2009

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Analysis of alternative splicing associated with aging and neurodegeneration in the human brain

Genome research, 2011-10, Vol.21 (10), p.1572

2011

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Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?

Journal of neurology, neurosurgery and psychiatry, 2013-05, Vol.84 (5), p.494-498

2013

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Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies

Journal of cell science, 2019-03, Vol.132 (5)

2019

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ALS2/Alsin Regulates Rac-PAK Signaling and Neurite Outgrowth

The Journal of biological chemistry, 2005-10, Vol.280 (41), p.34735-34740

2005

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Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria

Human molecular genetics, 2012-05, Vol.21 (9), p.1979-1988

2012

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

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

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

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

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

Cytoplasmic TDP-43 is involved in cell fate during stress recovery

ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

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

Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

Neurofilament Heavy Chain Side Arm Phosphorylation Regulates Axonal Transport of Neurofilaments

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

A clinical tool for predicting survival in ALS

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain

Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?

Nuclear RNA foci from C9ORF72 expansion mutation form paraspeckle-like bodies

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

ALS2/Alsin Regulates Rac-PAK Signaling and Neurite Outgrowth

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria

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