Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation

Cln1gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders

(2015) Goutam Chandra et al.   HUMAN MOLECULAR GENETICS

Proteomic analysis of the palmitoyl protein thioesterase 1 interactome in SH-SY5Y human neuroblastoma cells

(2015) Enzo Scifo et al.   Journal of Proteomics

The Roles of PINK1, Parkin, and Mitochondrial Fidelity in Parkinson’s Disease

(2015) Alicia M. Pickrell et al.   NEURON

Oligomerization of Cysteine String Protein alpha mutants causing adult neuronal ceroid lipofuscinosis

(2014) Yong-quan Zhang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

CELLO2GO: A Web Server for Protein subCELlular LOcalization Prediction with Functional Gene Ontology Annotation

(2014) Chin-Sheng Yu et al.   PLoS One

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses

(2013) Varun Warrier et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

NCL disease mechanisms

(2013) David N. Palmer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Tracking Brain Palmitoylation Change: Predominance of Glial Change in a Mouse Model of Huntington’s Disease

(2013) Junmei Wan et al.   CHEMISTRY & BIOLOGY

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

(2013) Susan L. Cotman et al.   Current Neurology and Neuroscience Reports

Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses inDrosophilalarvae

(2013) Elizabeth Aby et al.   FLY

Drafting the CLN3 Protein Interactome in SH-SY5Y Human Neuroblastoma Cells: A Label-free Quantitative Proteomics Approach

(2013) Enzo Scifo et al.   JOURNAL OF PROTEOME RESEARCH

Recurrent mutations inDNAJC5cause autosomal dominant Kufs disease

(2012) M Cadieux-Dion et al.   CLINICAL GENETICS

Palmitoylation-induced Aggregation of Cysteine-string Protein Mutants That Cause Neuronal Ceroid Lipofuscinosis

(2012) Jennifer Greaves et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of CSPα Clients Reveals a Role in Dynamin 1 Regulation

(2012) Yong-Quan Zhang et al.   NEURON

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

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

Case 8-2011

(2011) Katherine B. Sims et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Functional Genomic and Proteomic Analysis Reveals Disruption of Myelin-Related Genes and Translation in a Mouse Model of Early Life Neglect

(2011) Kelly A. Bordner et al.   Frontiers in Psychiatry

Site-specific analysis of proteinS-acylation by resin-assisted capture

(2010) Michael T. Forrester et al.   JOURNAL OF LIPID RESEARCH

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

(2009) Annina Lyly et al.   BMC CELL BIOLOGY

The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases

(2008) Konstanze F Winklhofer et al.   EMBO JOURNAL

Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice

(2008) Sung-Jo Kim et al.   JOURNAL OF CLINICAL INVESTIGATION

Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation

(2008) Rujun Kang et al.   NATURE