Genetic interaction of hnRNPA2B1 and DNAJB6 in aDrosophilamodel of multisystem proteinopathy

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

(2015) Amandine Molliex et al.   CELL

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation

(2015) Avinash Patel et al.   CELL

Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D

(2015) Rocio Bengoechea et al.   HUMAN MOLECULAR GENETICS

Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins

(2015) Yuan Lin et al.   MOLECULAR CELL

Multisystem proteinopathy: Table

(2015) J. Paul Taylor   NEUROLOGY

Pathology of frontotemporal dementia with limb girdle muscular dystrophy caused by a DNAJB6 mutation

(2014) Ichiro Yabe et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

(2014) Natássia M. Vieira et al.   HUMAN MOLECULAR GENETICS

Myopathy-causing Mutations in an HSP40 Chaperone Disrupt Processing of Specific Client Conformers

(2014) Kevin C. Stein et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

(2014) Julien Couthouis et al.   NEUROMUSCULAR DISORDERS

ATP-driven molecular chaperone machines

(2013) Daniel K. Clare et al.   BIOPOLYMERS

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

(2013) J. Ross Buchan et al.   CELL

Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders

(2013) Mani Ramaswami et al.   CELL

DNAJ Proteins and Protein Aggregation Diseases

(2013) Vaishali Kakkar et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

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

(2013) Hong Joo Kim et al.   NATURE

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

(2012) Oliver D. King et al.   BRAIN RESEARCH

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

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

De novo design of synthetic prion domains

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

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

(2011) Matthew B. Harms et al.   ANNALS OF NEUROLOGY

Heat shock protein 70 kDa chaperone/DnaJ cochaperone complex employs an unusual dynamic interface

(2011) A. Ahmad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Search and clustering orders of magnitude faster than BLAST

(2010) Robert C. Edgar   BIOINFORMATICS

Modulation of Stress Granules and P Bodies during Dicistrovirus Infection

(2010) A. Khong et al.   JOURNAL OF VIROLOGY

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

(2010) Liqun Liu-Yesucevitz et al.   PLoS One

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

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Inherited Myopathies and Muscular Dystrophies

(2008) Michael Cardamone et al.   SEMINARS IN NEUROLOGY