Interactome analyses revealed that the U1 snRNP machinery overlaps extensively with the RNAP II machinery and contains multiple ALS/SMA-causative proteins

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis

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C9orf72 expansion disrupts ATM-mediated chromosomal break repair

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Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

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TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

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SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

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Toxic PRnpoly-dipeptides encoded by theC9orf72repeat expansion block nuclear import and export

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R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein

(2017) Philippe Cloutier et al.   Nature Communications

ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export

(2017) Ashley Boehringer et al.   Scientific Reports

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

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Nuclear transport dysfunction: a common theme in amyotrophic lateral sclerosis and frontotemporal dementia

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Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

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Decoding ALS: from genes to mechanism

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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Poly(GR) in C9ORF72 -Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

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Two familial ALS proteins function in prevention/repair of transcription-associated DNA damage

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FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons

(2016) Julia Higelin et al.   Frontiers in Cellular Neuroscience

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins

(2016) S. Prpar Mihevc et al.   Scientific Reports

Biochemical Properties and Biological Functions of FET Proteins

(2015) Jacob C. Schwartz et al.   Annual Review of Biochemistry

Nuclear matrix protein Matrin3 regulates alternative splicing and forms overlapping regulatory networks with PTB

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Emerging mechanisms of molecular pathology in ALS

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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic era

(2015) Ximena Paez-Colasante et al.   Nature Reviews Neurology

NUFIP and the HSP90/R2TP chaperone bind the SMN complex and facilitate assembly of U4-specific proteins

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FUS functions in coupling transcription to splicing by mediating an interaction between RNAP II and U1 snRNP

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

(2014) Veronika Boczonadi et al.   Nature Communications

Stress granules as crucibles of ALS pathogenesis

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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Increasing the Multiplexing Capacity of TMTs Using Reporter Ion Isotopologues with Isobaric Masses

(2012) Graeme C. McAlister et al.   ANALYTICAL CHEMISTRY

U1 snRNP Determines mRNA Length and Regulates Isoform Expression

(2012) Michael G. Berg et al.   CELL

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

DBIRD complex integrates alternative mRNA splicing with RNA polymerase II transcript elongation

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Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

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Involvement of Matrin 3 and SFPQ/NONO in the DNA damage response

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

A yeast functional screen predicts new candidate ALS disease genes

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U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation

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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

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

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

The TET Family of Proteins: Functions and Roles in Disease

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TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

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