Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions

TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

(2014) Sarah L. Rea et al.   EXPERIMENTAL CELL RESEARCH

Misfolded Polyglutamine, Polyalanine, and Superoxide Dismutase 1 Aggregate via Distinct Pathways in the Cell

(2014) Saskia Polling et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2014) E. L. Scotter et al.   JOURNAL OF CELL SCIENCE

FUS is sequestered in nuclear aggregates in ALS patient fibroblasts

(2014) Jacob C. Schwartz et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

The amyloid state and its association with protein misfolding diseases

(2014) Tuomas P. J. Knowles et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms

(2014) Leslie I. Grad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

Recruitment into stress granules prevents irreversible aggregation of FUS protein mislocalized to the cytoplasm

(2013) Tatyana A Shelkovnikova et al.   CELL CYCLE

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

(2013) Hong Joo Kim et al.   NATURE

Coexistence of Huntington’s disease and amyotrophic lateral sclerosis: a clinicopathologic study

(2012) Mari Tada et al.   ACTA NEUROPATHOLOGICA

Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects

(2012) Glenda Halliday et al.   ACTA NEUROPATHOLOGICA

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

(2012) Masato Kato et al.   CELL

The small heat shock proteins αB-crystallin and Hsp27 suppress SOD1 aggregation in vitro

(2012) Justin J. Yerbury et al.   CELL STRESS & CHAPERONES

Protein Aggregation and Defective RNA Metabolism as Mechanisms for Motor Neuron Damage

(2012) N. Ticozzi et al.   CNS & Neurological Disorders-Drug Targets

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

Indirect inhibition of 26S proteasome activity in a cellular model of Huntington’s disease

(2012) Mark S. Hipp et al.   JOURNAL OF CELL BIOLOGY

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Compartmentalization of superoxide dismutase 1 (SOD1G93A) aggregates determines their toxicity

(2012) S. J. Weisberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aggregation of the 35-kDa fragment of TDP-43 causes formation of cytoplasmic inclusions and alteration of RNA processing

(2011) Mei-Xia Che et al.   FASEB JOURNAL

A “Two-hit” Hypothesis for Inclusion Formation by Carboxyl-terminal Fragments of TDP-43 Protein Linked to RNA Depletion and Impaired Microtubule-dependent Transport

(2011) G. Scott Pesiridis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cyclosporin-A-induced prion protein aggresomes are dynamic quality-control cellular compartments

(2011) T. Ben-Gedalya et al.   JOURNAL OF CELL SCIENCE

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

(2011) Han-Xiang Deng et al.   NATURE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

The C-Terminal TDP-43 Fragments Have a High Aggregation Propensity and Harm Neurons by a Dominant-Negative Mechanism

(2011) Chunxing Yang et al.   PLoS One

Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS

(2011) Zhihui Sun et al.   PLOS BIOLOGY

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis

(2011) Edor Kabashi et al.   PLoS Genetics

ANS Binding Reveals Common Features of Cytotoxic Amyloid Species

(2010) Benedetta Bolognesi et al.   ACS Chemical Biology

Ubiquitin/proteasome pathway impairment in neurodegeneration: therapeutic implications

(2010) Qian Huang et al.   APOPTOSIS

Conformation Sensors that Distinguish Monomeric Proteins from Oligomers in Live Cells

(2010) Yasmin M. Ramdzan et al.   CHEMISTRY & BIOLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

TDP-43 Redistribution is an Early Event in Sporadic Amyotrophic Lateral Sclerosis

(2009) Maria Teresa Giordana et al.   BRAIN PATHOLOGY

TDP-43 Is Intrinsically Aggregation-prone, and Amyotrophic Lateral Sclerosis-linked Mutations Accelerate Aggregation and Increase Toxicity

(2009) Brian S. Johnson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

(2009) I. P. Blair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations

(2009) Satomi Maekawa et al.   NEUROPATHOLOGY

The RNA-binding protein FUS/TLS is a common aggregate-interacting protein in polyglutamine diseases

(2009) Hiroshi Doi et al.   NEUROSCIENCE RESEARCH

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

ALS and FTLD: two faces of TDP-43 proteinopathy

(2008) R. M. Liscic et al.   EUROPEAN JOURNAL OF NEUROLOGY

Misfolded proteins partition between two distinct quality control compartments

(2008) Daniel Kaganovich et al.   NATURE

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

(2008) B. S. Johnson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE