A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism

Characterization of LAMP1-labeled nondegradative lysosomal and endocytic compartments in neurons

(2018) Xiu-Tang Cheng et al.   JOURNAL OF CELL BIOLOGY

Degradation of dendritic cargos requires Rab7-dependent transport to somatic lysosomes

(2018) Chan Choo Yap et al.   JOURNAL OF CELL BIOLOGY

DNAJC5 facilitates USP19-dependent unconventional secretion of misfolded cytosolic proteins

(2018) Yue Xu et al.   Cell Discovery

Synaptic Vesicle Endocytosis Occurs on Multiple Timescales and Is Mediated by Formin-Dependent Actin Assembly

(2017) Tolga Soykan et al.   NEURON

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency

(2017) Arun Kumar Tharkeshwar et al.   Scientific Reports

Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis

(2017) Bruno A. Benitez et al.   Scientific Reports

CSPα, a Molecular Co-chaperone Essential for Short and Long-Term Synaptic Maintenance

(2017) Elena Lopez-Ortega et al.   Frontiers in Neuroscience

A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis

(2017) Cinta Diez-Ardanuy et al.   Scientific Reports

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases

(2016) Irene Sambri et al.   EMBO Molecular Medicine

An antibody toolkit for the study of membrane traffic inDrosophila melanogaster

(2016) Falko Riedel et al.   Biology Open

Multiple Roles of the Small GTPase Rab7

(2016) Flora Guerra et al.   Cells

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

(2015) Michael X. Henderson et al.   ACTA NEUROPATHOLOGICA

The Biology of Proteostasis in Aging and Disease

(2015) Johnathan Labbadia et al.   Annual Review of Biochemistry

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

(2015) Sara E. Mole et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Cell biology of the NCL proteins: What they do and don't do

(2015) Jaime Cárcel-Trullols et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Towards a new understanding of NCL pathogenesis

(2015) Jonathan D. Cooper et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Dysregulation of microRNA-219 promotes neurodegeneration through post-transcriptional regulation of tau

(2015) Ismael Santa-Maria et al.   JOURNAL OF CLINICAL INVESTIGATION

Hsc70-4 Deforms Membranes to Promote Synaptic Protein Turnover by Endosomal Microautophagy

(2015) Valerie Uytterhoeven et al.   NEURON

Massive accumulation of luminal protease-deficient axonal lysosomes at Alzheimer’s disease amyloid plaques

(2015) Swetha Gowrishankar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cysteine string protein (CSP) and its role in preventing neurodegeneration

(2015) Robert D. Burgoyne et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss

(2015) Bruno A. Benitez et al.   Acta Neuropathologica Communications

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

Synaptic vesicle recycling: steps and principles

(2014) S. O. Rizzoli   EMBO JOURNAL

Stuck in traffic: an emerging theme in diseases of the nervous system

(2014) Jacques Neefjes et al.   TRENDS IN NEUROSCIENCES

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses

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

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

The neuronal ceroid-lipofuscinoses

(2013) Michael J. Bennett et al.   Developmental Disabilities Research Reviews

An Extended Proteome Map of the Lysosomal Membrane Reveals Novel Potential Transporters

(2013) Agnès Chapel et al.   MOLECULAR & CELLULAR PROTEOMICS

Ultrafast endocytosis at mouse hippocampal synapses

(2013) Shigeki Watanabe et al.   NATURE

Regulation of ubiquitin-dependent cargo sorting by multiple endocytic adaptors at the plasma membrane

(2013) J. R. Mayers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function

(2013) Smita Cherry et al.   eLife

Ultrafast endocytosis at Caenorhabditis elegans neuromuscular junctions

(2013) Shigeki Watanabe et al.   eLife

Human pathology in NCL

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

The neuronal ceroid-lipofuscinoses: A historical introduction

(2012) Matti Haltia et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Recurrent mutations inDNAJC5cause autosomal dominant Kufs disease

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

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

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

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

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

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 Modular Toolset for Recombination Transgenesis and Neurogenetic Analysis of Drosophila

(2012) Ji-Wu Wang et al.   PLoS One

Chaperone-mediated autophagy: a unique way to enter the lysosome world

(2012) Susmita Kaushik et al.   TRENDS IN CELL BIOLOGY

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

Microautophagy of Cytosolic Proteins by Late Endosomes

(2011) Ranjit Sahu et al.   DEVELOPMENTAL CELL

CSPα knockout causes neurodegeneration by impairing SNAP-25 function

(2011) Manu Sharma et al.   EMBO JOURNAL

The Power and Richness of Modelling Tauopathies in Drosophila

(2011) Katerina Papanikolopoulou et al.   MOLECULAR NEUROBIOLOGY

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

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

Spinster is required for autophagic lysosome reformation and mTOR reactivation following starvation

(2011) Y. Rong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

Cysteine-String Protein's Neuroprotective Role

(2010) Konrad E. Zinsmaier   JOURNAL OF NEUROGENETICS

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

(2010) Manu Sharma et al.   NATURE CELL BIOLOGY

Chaperoning the SNAREs: a role in preventing neurodegeneration?

(2010) Robert D. Burgoyne et al.   NATURE CELL BIOLOGY

Protein palmitoylation in neuronal development and synaptic plasticity

(2010) Yuko Fukata et al.   NATURE REVIEWS NEUROSCIENCE

Snapin-Regulated Late Endosomal Transport Is Critical for Efficient Autophagy-Lysosomal Function in Neurons

(2010) Qian Cai et al.   NEURON

Quercetin Targets Cysteine String Protein (CSPα) and Impairs Synaptic Transmission

(2010) Fenglian Xu et al.   PLoS One

Endosomal sorting of readily releasable synaptic vesicles

(2010) P. Hoopmann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins

(2009) Camilla Raiborg et al.   NATURE

Amyloid-β as a positive endogenous regulator of release probability at hippocampal synapses

(2009) Efrat Abramov et al.   NATURE NEUROSCIENCE

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Neuronal ceroid lipofuscinoses

(2008) Anu Jalanko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Palmitoylation and Membrane Interactions of the Neuroprotective Chaperone Cysteine-string Protein

(2008) Jennifer Greaves et al.   JOURNAL OF BIOLOGICAL CHEMISTRY