Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

Use of model organisms for the study of neuronal ceroid lipofuscinosis

(2013) Michael Bond 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 role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

(2013) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

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

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

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Guidelines for the use and interpretation of assays for monitoring autophagy

(2012) Daniel J. Klionsky et al.   Autophagy

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

The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

(2012) Susan L Cotman et al.   Clinical Lipidology

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Gemfibrozil and Fenofibrate, Food and Drug Administration-approved Lipid-lowering Drugs, Up-regulate Tripeptidyl-peptidase 1 in Brain Cells via Peroxisome Proliferator-activated Receptor α

(2012) Arunava Ghosh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Role of Ceroid Lipofuscinosis Neuronal Protein 5 (CLN5) in Endosomal Sorting

(2012) A. Mamo et al.   MOLECULAR AND CELLULAR BIOLOGY

Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System

(2012) John F. Staropoli et al.   PLoS One

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue

(2012) Yoichi Imaizumi et al.   Molecular Brain

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells

(2011) Thomas Lemonnier et al.   HUMAN MOLECULAR GENETICS

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

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

Directed Evolution of Adeno-associated Virus for Enhanced Gene Delivery and Gene Targeting in Human Pluripotent Stem Cells

(2011) Prashanth Asuri et al.   MOLECULAR THERAPY

Lysosomal positioning coordinates cellular nutrient responses

(2011) Viktor I. Korolchuk et al.   NATURE CELL BIOLOGY

The E3 ubiquitin ligase Rnf8 stabilizes Tpp1 to promote telomere end protection

(2011) Rekha Rai et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Induced pluripotent stem cells for modelling human diseases

(2011) J. J. Unternaehrer et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells

(2011) Yi Cao et al.   PLoS One

Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

(2011) Steven D. Sheridan et al.   PLoS One

A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3−/− cells

(2010) Amanda L. Getty et al.   EXPERIMENTAL CELL RESEARCH

Engineering of Human Pluripotent Stem Cells by AAV-mediated Gene Targeting

(2010) Iram F Khan et al.   MOLECULAR THERAPY

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

(2009) Annina Lyly et al.   BMC CELL BIOLOGY

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

Direct reprogramming of human neural stem cells by OCT4

(2009) Jeong Beom Kim et al.   NATURE

Loss of Hrs in the Central Nervous System Causes Accumulation of Ubiquitinated Proteins and Neurodegeneration

(2008) Keiichi Tamai et al.   AMERICAN JOURNAL OF PATHOLOGY

Neuronal ceroid lipofuscinoses

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

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

btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH

(2008) S. Codlin et al.   JOURNAL OF CELL SCIENCE

Mitochondrial changes in motor neurons of homozygotes of leucine 126 TT deletion SOD1 transgenic mice

(2008) Koji Doi et al.   NEUROPATHOLOGY