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

Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters

(2018) Christopher Grunseich et al.   MOLECULAR CELL

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Genetics of amyotrophic lateral sclerosis

(2017) P. Corcia et al.   REVUE NEUROLOGIQUE

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

(2017) Kornélia Tripolszki et al.   Brain and Behavior

Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways

(2016) Anna M. Blokhuis et al.   ACTA NEUROPATHOLOGICA

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

(2016) Kyung-Ha Lee et al.   CELL

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS–FTD-linkedUBQLN2mutations

(2016) Nhat T. T. Le et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

(2015) Amandine Molliex et al.   CELL

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA

(2015) A. C. Woerner et al.   SCIENCE

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

R-Loops in Proliferating Cells but Not in the Brain: Implications for AOA2 and Other Autosomal Recessive Ataxias

(2014) Abrey J. Yeo et al.   PLoS One

Rodent models of amyotrophic lateral sclerosis

(2013) Philip McGoldrick et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage

(2013) P. Richard et al.   GENES & DEVELOPMENT

Functional and evolutionary implications of gene orthology

(2013) Toni Gabaldón et al.   NATURE REVIEWS GENETICS

Protein Interaction Analysis of Senataxin and the ALS4 L389S Mutant Yields Insights into Senataxin Post-Translational Modification and Uncovers Mutant-Specific Binding with a Brain Cytoplasmic RNA-Encoded Peptide

(2013) Craig L. Bennett et al.   PLoS One

Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels

(2012) Masato Kato et al.   CELL

Senataxin, Defective in the Neurodegenerative Disorder Ataxia with Oculomotor Apraxia 2, Lies at the Interface of Transcription and the DNA Damage Response

(2012) O. Yuce et al.   MOLECULAR AND CELLULAR BIOLOGY

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

Feedback Regulation of Transcriptional Termination by the Mammalian Circadian Clock PERIOD Complex

(2012) K. Padmanabhan et al.   SCIENCE

The self-interaction of native TDP-43 C terminus inhibits its degradation and contributes to early proteinopathies

(2012) I.-Fan Wang et al.   Nature Communications

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

(2011) Francesca Avemaria et al.   Amyotrophic Lateral Sclerosis

Absence of disturbed axonal transport in spinal and bulbar muscular atrophy

(2011) B. Malik et al.   HUMAN MOLECULAR GENETICS

Genetic Rodent Models of Amyotrophic Lateral Sclerosis

(2011) L. Van Den Bosch   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

FoxG1 Promotes the Survival of Postmitotic Neurons

(2011) S. G. Dastidar et al.   JOURNAL OF NEUROSCIENCE

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

Human Senataxin Resolves RNA/DNA Hybrids Formed at Transcriptional Pause Sites to Promote Xrn2-Dependent Termination

(2011) Konstantina Skourti-Stathaki et al.   MOLECULAR CELL

The quantitative proteome of a human cell line

(2011) M. Beck et al.   Molecular Systems Biology

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

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Unravelling the means to an end: RNA polymerase II transcription termination

(2011) Jason N. Kuehner et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy

(2011) Sabine Rudnik-Schöneborn et al.   NEUROMUSCULAR DISORDERS

The Heritability of Amyotrophic Lateral Sclerosis in a Clinically Ascertained United States Research Registry

(2011) Thomas S. Wingo et al.   PLoS One

TDP-43 regulates its mRNA levels through a negative feedback loop

(2010) Youhna M Ayala et al.   EMBO JOURNAL

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

ALS pathogenesis: Recent insights from genetics and mouse models

(2010) Vivek Swarup et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

(2010) Stephan J. Guyenet et al.   Jove-Journal of Visualized Experiments

Transcription termination by nuclear RNA polymerases

(2009) P. Richard et al.   GENES & DEVELOPMENT

Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation

(2009) Amila Suraweera et al.   HUMAN MOLECULAR GENETICS

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery

(2009) Mariàngels de Planell-Saguer et al.   HUMAN MOLECULAR GENETICS

Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk

(2009) J. E. Young et al.   JOURNAL OF NEUROSCIENCE

Global Analysis of TDP-43 Interacting Proteins Reveals Strong Association with RNA Splicing and Translation Machinery

(2009) Brian D. Freibaum et al.   JOURNAL OF PROTEOME RESEARCH

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE