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

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

(2015) Johanna Palmio et al.   NEUROMUSCULAR DISORDERS

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

(2015) Alessandra Ruggieri et al.   Acta Neuropathologica Communications

The toxic effect of R350P mutant desmin in striated muscle of man and mouse

(2014) Christoph S. Clemen et al.   ACTA NEUROPATHOLOGICA

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

Abnormal distribution of heterogeneous nuclear ribonucleoproteins in sporadic inclusion body myositis

(2014) Jack L. Pinkus et al.   NEUROMUSCULAR DISORDERS

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

(2013) Maria J. Melià et al.   BRAIN

Cellular Mechanotransduction Relies on Tension-Induced and Chaperone-Assisted Autophagy

(2013) Anna Ulbricht et al.   CURRENT BIOLOGY

Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones

(2013) Maria Udan-Johns et al.   HUMAN MOLECULAR GENETICS

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

(2013) Hong Joo Kim et al.   NATURE

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions

(2013) Takatoshi Sato et al.   NEUROMUSCULAR DISORDERS

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

(2013) Annalaura Torella et al.   PLoS One

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

(2012) Peter Hackman et al.   ANNALS OF NEUROLOGY

Hsp72 preserves muscle function and slows progression of severe muscular dystrophy

(2012) Stefan M. Gehrig et al.   NATURE

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

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

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

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

(2011) Steven A. Greenberg et al.   ANNALS OF NEUROLOGY

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

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

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

(2010) S. Sandell et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A DNAJB Chaperone Subfamily with HDAC-Dependent Activities Suppresses Toxic Protein Aggregation

(2010) Jurre Hageman et al.   MOLECULAR CELL

The HSP70 chaperone machinery: J proteins as drivers of functional specificity

(2010) Harm H. Kampinga et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

(2009) Mohammad Salajegheh et al.   MUSCLE & NERVE

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

(2008) C C Weihl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY