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The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

Human molecular genetics, 2012-08, Vol.21 (16), p.3703-3718

2012

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Spinal muscular atrophy: The role of SMN in axonal mRNA regulation

Brain research, 2012-06, Vol.1462, p.81-92

2012

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Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD

Neurobiology of disease, 2020-07, Vol.140, p.104835-104835, Article 104835

2020

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Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

The Journal of neuroscience, 2016-03, Vol.36 (13), p.3811-3820

2016

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mRNP assembly, axonal transport, and local translation in neurodegenerative diseases

Brain research, 2018-08, Vol.1693 (Pt A), p.75-91

2018

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TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

Nature neuroscience, 2018-02, Vol.21 (2), p.228-239

2018

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Nuclear-import receptors as gatekeepers of pathological phase transitions in ALS/FTD

Molecular neurodegeneration, 2024-01, Vol.19 (1), p.8-29, Article 8

2024

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Dysregulation of mRNA Localization and Translation in Genetic Disease

The Journal of neuroscience, 2016-11, Vol.36 (45), p.11418-11426

2016

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Commentary: Current Status of Gene Therapy for Spinal Muscular Atrophy

Frontiers in cellular neuroscience, 2022-05, Vol.16, p.916065-916065

2022

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Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

Science (American Association for the Advancement of Science), 2008-04, Vol.320 (5875), p.524-527

2008

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Efficient generation of a self-organizing neuromuscular junction model from human pluripotent stem cells

Nature communications, 2023-12, Vol.14 (1), p.8043-8043, Article 8043

2023

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Post-transcriptional Inhibition of Hsc70-4/HSPA8 Expression Leads to Synaptic Vesicle Cycling Defects in Multiple Models of ALS

Cell reports (Cambridge), 2017-10, Vol.21 (1), p.110-125

2017

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The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly

Cell reports (Cambridge), 2017-02, Vol.18 (7), p.1660-1673

2017

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Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia

Molecular neurodegeneration, 2016-06, Vol.11 (1), p.46-46, Article 46

2016

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Nuclear Transport Receptors as Novel Modifiers of C9orf72 Pathology (P6-9.002)

Neurology, 2024-04, Vol.102 (17_supplement_1)

2024

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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

Cell reports (Cambridge), 2020-05, Vol.31 (5), p.107616-107616, Article 107616

2020

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High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function

Molecular neurodegeneration, 2010-04, Vol.5 (1), p.17-17, Article 17

2010

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The DAXX tax: C9orf72 DNA repeat expansions drive gain- and loss-of-function pathology in c9FTD/ALS

Neuron (Cambridge, Mass.), 2023-04, Vol.111 (8), p.1165-1167

2023

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Coaggregation of RNA-binding proteins in a model of TDP-43 proteinopathy with selective RGG motif methylation and a role for RRM1 ubiquitination

PloS one, 2012-06, Vol.7 (6), p.e38658

2012

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Proximity proteomics of C9orf72 dipeptide repeat proteins identifies molecular chaperones as modifiers of poly-GA aggregation

Acta neuropathologica communications, 2022-02, Vol.10 (1), p.22-18, Article 22

2022

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A human pluripotent stem cell model of catecholaminergic polymorphic ventricular tachycardia recapitulates patient-specific drug responses

Disease models & mechanisms, 2016-09, Vol.9 (9), p.927-939

2016

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Nuclear import receptors are recruited by FG-nucleoporins to rescue hallmarks of TDP-43 proteinopathy

Molecular neurodegeneration, 2022-12, Vol.17 (1), p.80-27, Article 80

2022

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Missense Mutation in the Tubulin-Specific Chaperone E (Tbce) Gene in the Mouse Mutant Progressive Motor Neuronopathy, a Model of Human Motoneuron Disease

The Journal of cell biology, 2002-11, Vol.159 (4), p.563-569

2002

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Crosstalk of Local Translation and Mitochondria: Powering Plasticity in Axons and Dendrites

Neuron (Cambridge, Mass.), 2019-01, Vol.101 (2), p.204-206

2019

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A role for the survival of motor neuron protein in mRNP assembly and transport

Current opinion in neurobiology, 2016-08, Vol.39, p.53-61

2016

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The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

Spinal muscular atrophy: The role of SMN in axonal mRNA regulation

Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD

Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

mRNP assembly, axonal transport, and local translation in neurodegenerative diseases

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

Nuclear-import receptors as gatekeepers of pathological phase transitions in ALS/FTD

Dysregulation of mRNA Localization and Translation in Genetic Disease

Commentary: Current Status of Gene Therapy for Spinal Muscular Atrophy

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

Efficient generation of a self-organizing neuromuscular junction model from human pluripotent stem cells

Post-transcriptional Inhibition of Hsc70-4/HSPA8 Expression Leads to Synaptic Vesicle Cycling Defects in Multiple Models of ALS

The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly

Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia

Nuclear Transport Receptors as Novel Modifiers of C9orf72 Pathology (P6-9.002)

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function

The DAXX tax: C9orf72 DNA repeat expansions drive gain- and loss-of-function pathology in c9FTD/ALS

Coaggregation of RNA-binding proteins in a model of TDP-43 proteinopathy with selective RGG motif methylation and a role for RRM1 ubiquitination

Proximity proteomics of C9orf72 dipeptide repeat proteins identifies molecular chaperones as modifiers of poly-GA aggregation

A human pluripotent stem cell model of catecholaminergic polymorphic ventricular tachycardia recapitulates patient-specific drug responses

Nuclear import receptors are recruited by FG-nucleoporins to rescue hallmarks of TDP-43 proteinopathy

Missense Mutation in the Tubulin-Specific Chaperone E (Tbce) Gene in the Mouse Mutant Progressive Motor Neuronopathy, a Model of Human Motoneuron Disease

Crosstalk of Local Translation and Mitochondria: Powering Plasticity in Axons and Dendrites

A role for the survival of motor neuron protein in mRNP assembly and transport

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