Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium ofCln3Δex1-6mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease)

Biology and therapy of inherited retinal degenerative disease: insights from mouse models

(2015) Shobi Veleri et al.   Disease Models & Mechanisms

Autophagosome dynamics in neurodegeneration at a glance

(2015) Y. C. Wong et al.   JOURNAL OF CELL SCIENCE

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

Autophagy in the eye: Implications for ocular cell health

(2014) Laura S. Frost et al.   EXPERIMENTAL EYE RESEARCH

Phagosome maturation during endosome interaction revealed by partial rhodopsin processing in retinal pigment epithelium

(2014) S. T. Wavre-Shapton et al.   JOURNAL OF CELL SCIENCE

Novel CLN3 mutation causing autophagic vacuolar myopathy

(2014) A. Cortese et al.   NEUROLOGY

CLN3 Deficient Cells Display Defects in the ARF1-Cdc42 Pathway and Actin-Dependent Events

(2014) Mark L. Schultz et al.   PLoS One

FRET-Assisted Determination of CLN3 Membrane Topology

(2014) Ewa Ratajczak et al.   PLoS One

Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography

(2014) Janos Groh et al.   Acta Neuropathologica Communications

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

(2013) Katrin Kollmann et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Noncanonical Autophagy Promotes the Visual Cycle

(2013) Ji-Young Kim et al.   CELL

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

CLN3 Loss Disturbs Membrane Microdomain Properties and Protein Transport in Brain Endothelial Cells

(2013) L. Tecedor et al.   JOURNAL OF NEUROSCIENCE

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts

(2013) José Manuel Vidal-Donet et al.   PLoS One

Guidelines for the use and interpretation of assays for monitoring autophagy

(2012) Daniel J. Klionsky et al.   Autophagy

Mouse models of neuronal ceroid lipofuscinoses: Useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics

(2012) John J. Shacka   BRAIN RESEARCH BULLETIN

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments

(2012) Kristiina Uusi-Rauva et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

The yeast Batten disease orthologue Btn1 controls endosome–Golgi retrograde transport via SNARE assembly

(2011) Rachel Kama et al.   JOURNAL OF CELL BIOLOGY

Morphologic and Functional Correlates of Synaptic Pathology in the Cathepsin D Knockout Mouse Model of Congenital Neuronal Ceroid Lipofuscinosis

(2011) Sabine Koch et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3Δex7/8-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

(2011) Rozzy Finn et al.   NEUROCHEMISTRY INTERNATIONAL

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

The epidemiology of progressive intellectual and neurological deterioration in childhood

(2009) C. Verity et al.   ARCHIVES OF DISEASE IN CHILDHOOD

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p

(2009) S. Codlin et al.   JOURNAL OF CELL SCIENCE

Pathogenic cascades in lysosomal disease—Why so complex?

(2009) S. U. Walkley   JOURNAL OF INHERITED METABOLIC DISEASE

Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) and the Eye

(2009) Sara Bozorg et al.   SURVEY OF OPHTHALMOLOGY

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin–Na+, K+ ATPase complex

(2008) Kristiina Uusi-Rauva et al.   EXPERIMENTAL CELL RESEARCH

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

(2008) C.-H. Chan et al.   HUMAN MOLECULAR GENETICS

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

Loss of the Batten Disease Gene CLN3 Prevents Exit from the TGN of the Mannose 6-Phosphate Receptor

(2008) Daniel J Metcalf et al.   TRAFFIC

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis

(2007) Martin L. Katz et al.   NEUROBIOLOGY OF DISEASE