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ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43

Nature communications, 2014-06, Vol.5 (1), p.3996-3996, Article 3996

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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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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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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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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Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Neurobiology of aging, 2015-03, Vol.36 (3), p.1602.e17-1602.e27

2015

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ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells

Scientific reports, 2021-06, Vol.11 (1), p.11868-11868, Article 11868

2021

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An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

PloS one, 2014-03, Vol.9 (6), p.e90833

2014

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Latent cluster analysis of ALS phenotypes identifies prognostically differing groups

PloS one, 2009-09, Vol.4 (9), p.e7107-e7107

2009

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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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Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

Nature communications, 2015-01, Vol.6 (1), p.5999-5999, Article 5999

2015

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ALS/FTD-associated FUS activates GSK-3β to disrupt the VAPB-PTPIP51 interaction and ER-mitochondria associations

EMBO reports, 2016-09, Vol.17 (9), p.1326-1342

2016

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A proposed staging system for amyotrophic lateral sclerosis

Brain (London, England : 1878), 2012-03, Vol.135 (3), p.847-852

2012

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A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

Brain (London, England : 1878), 2018-10, Vol.141 (10), p.2908-2924

2018

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The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci

PloS one, 2009-12, Vol.4 (12), p.e8175-e8175

2009

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Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

Scientific reports, 2012-08, Vol.2, p.603-603

2012

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Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

Scientific reports, 2012-08, Vol.2 (1), Article 603

2012

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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Nature communications, 2022-11, Vol.13 (1), p.6901-6901, Article 6901

2022

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Reply: The role of DNAJB2 in amyotrophic lateral sclerosis

Brain (London, England : 1878), 2016-10, Vol.139 (Pt 10), p.e58-e58

2016

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ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43

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

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

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

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

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

Latent cluster analysis of ALS phenotypes identifies prognostically differing groups

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

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

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

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS

ALS/FTD-associated FUS activates GSK-3β to disrupt the VAPB-PTPIP51 interaction and ER-mitochondria associations

A proposed staging system for amyotrophic lateral sclerosis

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

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

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Reply: The role of DNAJB2 in amyotrophic lateral sclerosis

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