J protein mutations and resulting proteostasis collapse

Diversity of ARSACS Mutations in French-Canadians

(2014) I. Thiffault et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation

(2014) C. L. Freeman et al.   JOURNAL OF CELL SCIENCE

Unraveling the Intricate Organization of Mammalian Mitochondrial Presequence Translocases: Existence of Multiple Translocases for Maintenance of Mitochondrial Function

(2014) D. Sinha et al.   MOLECULAR AND CELLULAR BIOLOGY

Cysteine String Protein Limits Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel

(2014) Eva Ahrendt et al.   PLoS One

CSPα—chaperoning presynaptic proteins

(2014) Julien Donnelier et al.   Frontiers in Cellular Neuroscience

Molecular Chaperone Functions in Protein Folding and Proteostasis

(2013) Yujin E. Kim et al.   Annual Review of Biochemistry

DNAJ Proteins and Protein Aggregation Diseases

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

DNAJC13 mutations in Parkinson disease

(2013) Carles Vilariño-Güell et al.   HUMAN MOLECULAR GENETICS

A Role for an Hsp70 Nucleotide Exchange Factor in the Regulation of Synaptic Vesicle Endocytosis

(2013) J. R. Morgan et al.   JOURNAL OF NEUROSCIENCE

DNAJB6 myopathy: A vacuolar myopathy with childhood onset

(2013) Gerson Suarez-Cedeno et al.   MUSCLE & NERVE

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions

(2013) Takatoshi Sato et al.   NEUROMUSCULAR DISORDERS

Molecular Chaperone Mediated Late-Stage Neuroprotection in the SOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis

(2013) Sergey S. Novoselov et al.   PLoS One

The Large Conductance, Calcium-activated K+ (BK) Channel is regulated by Cysteine String Protein

(2013) Barry D. Kyle et al.   Scientific Reports

Human pathology in NCL

(2012) Glenn W. Anderson et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Suppression of protein aggregation by chaperone modification of high molecular weight complexes

(2012) John Labbadia et al.   BRAIN

Cellular stress stimulates nuclear localization signal (NLS) independent nuclear transport of MRJ

(2012) Joel F. Andrews et al.   EXPERIMENTAL CELL RESEARCH

The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

(2012) James C Stevens et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Homozygous deletion of an 80kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

(2012) Virginie Vauthier et al.   MOLECULAR GENETICS AND METABOLISM

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

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

Motorneurons Require Cysteine String Protein-α to Maintain the Readily Releasable Vesicular Pool and Synaptic Vesicle Recycling

(2012) José Luis Rozas et al.   NEURON

Identification of CSPα Clients Reveals a Role in Dynamin 1 Regulation

(2012) Yong-Quan Zhang et al.   NEURON

DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability

(2012) Çiğdem Köroğlu et al.   PARKINSONISM & RELATED DISORDERS

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia and male genital anomalies

(2012) Tiina Ojala et al.   PEDIATRIC RESEARCH

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

(2012) Milen Velinov et al.   PLoS One

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

(2012) M. Girard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Update on the Genetics of Limb Girdle Muscular Dystrophy

(2012) Satomi Mitsuhashi et al.   Seminars in Pediatric Neurology

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

(2011) Lenka Nosková et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder

(2011) Senthil K. Sundaram et al.   ANNALS OF NEUROLOGY

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

(2011) Sergiu C. Blumen et al.   ANNALS OF NEUROLOGY

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

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

CSPα knockout causes neurodegeneration by impairing SNAP-25 function

(2011) Manu Sharma et al.   EMBO JOURNAL

GWAS-linked GAK locus in Parkinson’s disease in Han Chinese and meta-analysis

(2011) Nan-Nan Li et al.   HUMAN GENETICS

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

(2011) Guennadi Kozlov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Co-Chaperone HSJ1a Dually Regulates the Proteasomal Degradation of Ataxin-3

(2011) Xue-Chao Gao et al.   PLoS One

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

(2011) Bruno A. Benitez et al.   PLoS One

SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophy

(2010) Jeffery A. Goldstein et al.   HUMAN MOLECULAR GENETICS

Cysteine String Protein-  Prevents Activity-Dependent Degeneration in GABAergic Synapses

(2010) P. Garcia-Junco-Clemente et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Jurre Hageman et al.   MOLECULAR CELL

CSPα promotes SNARE-complex assembly by chaperoning SNAP-25 during synaptic activity

(2010) Manu Sharma et al.   NATURE CELL BIOLOGY

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

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

Mutations in SACS cause atypical and late-onset forms of ARSACS

(2010) J. Baets et al.   NEUROLOGY

Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice

(2010) Y.-I. Yim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

(2009) David A. Parfitt et al.   HUMAN MOLECULAR GENETICS

Analysis of Articulation Between Clathrin and Retromer in Retrograde Sorting on Early Endosomes

(2009) Vincent Popoff et al.   TRAFFIC

Biological Roles of Neural J Proteins

(2008) X. Zhao et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

RME-8 regulates trafficking of the epidermal growth factor receptor

(2008) Martine Girard et al.   FEBS LETTERS

DnaJB6 is present in the core of Lewy bodies and is highly up-regulated in parkinsonian astrocytes

(2008) P.F. Durrenberger et al.   JOURNAL OF NEUROSCIENCE RESEARCH