Therapeutic landscape for Batten disease: current treatments and future prospects

Large animal models of stroke and traumatic brain injury as translational tools

(2018) Annabel Jain Sorby-Adams et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

The Challenge of Rare Diseases

(2018) James K. Stoller   CHEST

Testing combinatorial therapies for juvenile Batten disease

(2018) Jonathan Cooper et al.   MOLECULAR GENETICS AND METABOLISM

Combination dosing of CLN1 gene therapy extends lifespan in a mouse model of infantile neuronal ceroid lipofuscinosis

(2018) Alejandra J. Rozenberg et al.   MOLECULAR GENETICS AND METABOLISM

Gene therapy for Mucopolysaccharidoses

(2018) Kazuki Sawamoto et al.   MOLECULAR GENETICS AND METABOLISM

Prevention of Photoreceptor Cell Loss in a Cln6 nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells

(2018) Sophia-Martha kleine Holthaus et al.   MOLECULAR THERAPY

Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo

(2018) Mark L. Schultz et al.   NEUROBIOLOGY OF DISEASE

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autophagy and Alzheimer’s Disease: From Molecular Mechanisms to Therapeutic Implications

(2018) Md. Sahab Uddin et al.   Frontiers in Aging Neuroscience

Emerging Issues in AAV-Mediated In Vivo Gene Therapy

(2018) Pasqualina Colella et al.   Molecular Therapy-Methods & Clinical Development

Discovery of a CLN7 model of Batten disease in non-human primates

(2018) Jodi L. McBride et al.   NEUROBIOLOGY OF DISEASE

Gemfibrozil, food and drug administration-approved lipid-lowering drug, increases longevity in mouse model of late infantile neuronal ceroid lipofuscinosis

(2017) Arunava Ghosh et al.   JOURNAL OF NEUROCHEMISTRY

A Basic ApoE-Based Peptide Mediator to Deliver Proteins across the Blood-Brain Barrier: Long-Term Efficacy, Toxicity, and Mechanism

(2017) Yu Meng et al.   MOLECULAR THERAPY

Fingolimod and Teriflunomide Attenuate Neurodegeneration in Mouse Models of Neuronal Ceroid Lipofuscinosis

(2017) Janos Groh et al.   MOLECULAR THERAPY

Antisense Oligonucleotides: Translation from Mouse Models to Human Neurodegenerative Diseases

(2017) Kathleen M. Schoch et al.   NEURON

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder

(2017) K. Varvagiannis et al.   NEUROPEDIATRICS

Management Strategies for CLN2 Disease

(2017) Ruth E. Williams et al.   PEDIATRIC NEUROLOGY

Synergistic effects of treating the spinal cord and brain in CLN1 disease

(2017) Charles Shyng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pyridoxine 5′-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer

(2017) Lingyun Zhang et al.   Cell Death & Disease

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

(2017) Cristy A. Ku et al.   JAMA Ophthalmology

Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand

(2017) Nandini Ramesh et al.   Frontiers in Molecular Neuroscience

Immune Modulation in the Treatment of Amyotrophic Lateral Sclerosis: A Review of Clinical Trials

(2017) Syed I. Khalid et al.   Frontiers in Neurology

A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies

(2017) Ryan D. Geraets et al.   PLoS One

MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis

(2016) E.H. Baker et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression

(2016) U. Löbel et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Efficacy of phosphodiesterase-4 inhibitors in juvenile Batten disease (CLN3)

(2016) Amy Aldrich et al.   ANNALS OF NEUROLOGY

Parkinson's disease: Autoimmunity and neuroinflammation

(2016) Armando De Virgilio et al.   AUTOIMMUNITY REVIEWS

Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis

(2016) Christopher J. Tracy et al.   EXPERIMENTAL EYE RESEARCH

Sialoadhesin promotes neuroinflammation-related disease progression in two mouse models of CLN disease

(2016) Janos Groh et al.   GLIA

Using Patient-Specific Induced Pluripotent Stem Cells and Wild-Type Mice to Develop a Gene Augmentation-Based Strategy to TreatCLN3-Associated Retinal Degeneration

(2016) Luke A. Wiley et al.   HUMAN GENE THERAPY

Inflammation, Antiinflammatory Agents, and Alzheimer’s Disease: The Last 22 Years

(2016) Patrick L. McGeer et al.   JOURNAL OF ALZHEIMERS DISEASE

Nanoparticle-mediated brain drug delivery: Overcoming blood–brain barrier to treat neurodegenerative diseases

(2016) Cláudia Saraiva et al.   JOURNAL OF CONTROLLED RELEASE

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

(2016) Stefano Doccini et al.   JOURNAL OF NEUROLOGY

Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

(2016) M. E. Bosch et al.   JOURNAL OF NEUROSCIENCE

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

(2016) Michael Fietz et al.   MOLECULAR GENETICS AND METABOLISM

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression

(2016) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dysregulation of autophagy and mitochondrial function in Parkinson’s disease

(2016) Bao Wang et al.   Translational Neurodegeneration

CLN8 disease caused by large genomic deletions

(2016) Clare Beesley et al.   Molecular Genetics & Genomic Medicine

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

(2015) Romina Kohan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

Human NCL Neuropathology

(2015) Josefine Radke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender

(2015) A. D. Kovacs et al.   Disease Models & Mechanisms

OP48 – 2893: The DEM-CHILD NCL Patient Database: A tool for the evaluation of therapies in neuronal ceroid lipofuscinoses (NCL)

(2015) A. Schulz et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Plasma biomarkers for neuronal ceroid lipofuscinosis

(2015) Samantha L. Hersrud et al.   FEBS Journal

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease

(2015) Rosanna Beraldi et al.   HUMAN MOLECULAR GENETICS

Fibrates inhibit the apoptosis of Batten disease lymphoblast cells via autophagy recovery and regulation of mitochondrial membrane potential

(2015) Minho Hong et al.   IN VITRO CELLULAR & DEVELOPMENTAL BIOLOGY-ANIMAL

Activation of Peroxisome Proliferator-activated Receptor α Induces Lysosomal Biogenesis in Brain Cells

(2015) Arunava Ghosh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1 R151X mouse model of INCL

(2015) Vaughn Thada et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Colony-stimulating factor 1 receptor inhibition prevents microglial plaque association and improves cognition in 3xTg-AD mice

(2015) Nabil N. Dagher et al.   Journal of Neuroinflammation

Role of sigma-1 receptors in neurodegenerative diseases

(2015) Linda Nguyen et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

(2015) Jui-Yun Lu et al.   MOLECULAR GENETICS AND METABOLISM

Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis

(2015) Brian R. Vuillemenot et al.   MOLECULAR GENETICS AND METABOLISM

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated withCLN6mutations

(2015) Laura Canafoglia et al.   NEUROLOGY

AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

(2015) Martin L. Katz et al.   Science Translational Medicine

The Role of Oxidative Stress in Neurodegenerative Diseases

(2015) Geon Ha Kim et al.   Experimental Neurobiology

Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis

(2015) Wanda Jankowiak et al.   PLoS One

Why primate models matter

(2014) Kimberley A. Phillips et al.   AMERICAN JOURNAL OF PRIMATOLOGY

The role of PI3K/AKT/mTOR pathway in the modulation of autophagy and the clearance of protein aggregates in neurodegeneration

(2014) David Heras-Sandoval et al.   CELLULAR SIGNALLING

The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

(2014) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

(2014) Cecilia Mancini et al.   JOURNAL OF NEUROLOGY

An Anti-Neuroinflammatory That Targets Dysregulated Glia Enhances the Efficacy of CNS-Directed Gene Therapy in Murine Infantile Neuronal Ceroid Lipofuscinosis

(2014) S. L. Macauley et al.   JOURNAL OF NEUROSCIENCE

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

(2014) Sondra W Levin et al.   LANCET NEUROLOGY

Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease

(2014) R. Di Fabio et al.   NEUROLOGY

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis

(2014) Liliana Catherine Patiño et al.   PLoS One

The impact of microglial activation on blood-brain barrier in brain diseases

(2014) Anna Carolina Carvalho da Fonseca et al.   Frontiers in Cellular Neuroscience

Biology of adeno-associated viral vectors in the central nervous system

(2014) Giridhar Murlidharan et al.   Frontiers in Molecular Neuroscience

Use of model organisms for the study of neuronal ceroid lipofuscinosis

(2013) Michael Bond et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

VBP15: Preclinical characterization of a novel anti-inflammatory delta 9,11 steroid

(2013) Erica K.M. Reeves et al.   BIOORGANIC & MEDICINAL CHEMISTRY

Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis

(2013) Janos Groh et al.   BRAIN

Disease-modifying therapy in multiple sclerosis and chronic inflammatory demyelinating polyradiculoneuropathy: common and divergent current and future strategies

(2013) N. Melzer et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates

(2013) Elisabeth A. de Blieck et al.   Contemporary Clinical Trials

Partial Correction of the CNS Lysosomal Storage Defect in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis by Neonatal CNS Administration of an Adeno-Associated Virus Serotype rh.10 Vector Expressing the Human CLN3 Gene

(2013) Dolan Sondhi et al.   HUMAN GENE THERAPY

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

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

(2013) Yu Sun et al.   HUMAN MUTATION

Inflammation in neurodegenerative diseases - an update

(2013) Sandra Amor et al.   IMMUNOLOGY

Clinical Trials in Rare Disease

(2013) Erika F. Augustine et al.   JOURNAL OF CHILD NEUROLOGY

Batten Disease

(2013) Sarah-Bianca Dolisca et al.   JOURNAL OF CHILD NEUROLOGY

Large Animal Models for Batten Disease

(2013) Krystal Weber et al.   JOURNAL OF CHILD NEUROLOGY

Neurobehavioral Features and Natural History of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

(2013) Heather R. Adams et al.   JOURNAL OF CHILD NEUROLOGY

Classification and Natural History of the Neuronal Ceroid Lipofuscinoses

(2013) Jonathan W. Mink et al.   JOURNAL OF CHILD NEUROLOGY

Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis

(2013) Nathan R. Selden et al.   Journal of Neurosurgery-Pediatrics

Differential Adeno-Associated Virus Serotype-Specific Interaction Patterns with Synthetic Heparins and Other Glycans

(2013) M. Mietzsch et al.   JOURNAL OF VIROLOGY

Neuroprotection and lifespan extension in Ppt1 −/− mice by NtBuHA: therapeutic implications for INCL

(2013) Chinmoy Sarkar et al.   NATURE NEUROSCIENCE

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

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

Assessment of Disease Severity in Late Infantile Neuronal Ceroid Lipofuscinosis Using Multiparametric MR Imaging

(2012) J.P. Dyke et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Synergistic effects of central nervous system-directed gene therapy and bone marrow transplantation in the murine model of infantile neuronal ceroid lipofuscinosis

(2012) Shannon L. Macauley et al.   ANNALS OF NEUROLOGY

Initial Experience with a Juvenile Sheep Model for Evaluation of the Pediatric Intracorporeal Ventricular Assist Services

(2012) Xufeng Wei et al.   ASAIO JOURNAL

Human pathology in NCL

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

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

(2012) John J. Shacka   BRAIN RESEARCH BULLETIN

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

Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

(2012) Romina Kohan et al.   GENE

Combination small molecule PPT1 mimetic and CNS-directed gene therapy as a treatment for infantile neuronal ceroid lipofuscinosis

(2012) Marie S. Roberts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl–protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

(2012) Jie Hu et al.   MOLECULAR GENETICS AND METABOLISM

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

(2012) R. E. Williams et al.   NEUROLOGY

Age-dependent therapeutic effect of memantine in a mouse model of juvenile Batten disease

(2012) Attila D. Kovács et al.   NEUROPHARMACOLOGY

Central Nervous System Fibrosis Is Associated with Fibrocyte-Like Infiltrates

(2011) Amy Aldrich et al.   AMERICAN JOURNAL OF PATHOLOGY

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

(2011) NM Allen et al.   CLINICAL GENETICS

Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol

(2011) Hui Wei et al.   HUMAN MOLECULAR GENETICS

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

Females experience a more severe disease course in batten disease

(2011) Jennifer Cialone et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Large-volume Intrathecal Enzyme Delivery Increases Survival of a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis

(2011) Su Xu et al.   MOLECULAR THERAPY

Quantitative telemedicine ratings in Batten disease: Implications for rare disease research

(2011) J. Cialone et al.   NEUROLOGY

Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd: implications to delayed myelination and oligodendrocyte maturation

(2011) M. Kuronen et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

CNTF and retina

(2011) Rong Wen et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Swine as Models in Biomedical Research and Toxicology Testing

(2011) M. M. Swindle et al.   VETERINARY PATHOLOGY

CNS-Expressed Cathepsin D Prevents Lymphopenia in a Murine Model of Congenital Neuronal Ceroid Lipofuscinosis

(2010) Zinayida Shevtsova et al.   AMERICAN JOURNAL OF PATHOLOGY

Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease

(2010) Glyn Dawson et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

MRI Of the Brain, EEG Sleep Spindles and SPECT in the Early Diagnosis of Infantile Neuronal Ceroid Lipofuscinosis

(2010) Pirkko Santavuori et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis

(2010) Sanna-Leena Vanhanen et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Immunosuppression alters disease severity in juvenile Batten disease mice

(2010) Sabrina S. Seehafer et al.   JOURNAL OF NEUROIMMUNOLOGY

Network organization of the human autophagy system

(2010) Christian Behrends et al.   NATURE

Fingolimod (FTY720): discovery and development of an oral drug to treat multiple sclerosis

(2010) Volker Brinkmann et al.   NATURE REVIEWS DRUG DISCOVERY

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

(2010) W. Xin et al.   NEUROLOGY

Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease

(2010) Attila D. Kovács et al.   NEUROPHARMACOLOGY

Cystic Fibrosis Pigs Develop Lung Disease and Exhibit Defective Bacterial Eradication at Birth

(2010) D. A. Stoltz et al.   Science Translational Medicine

Molecular mechanisms of excitotoxicity and their relevance to pathogenesis of neurodegenerative diseases

(2009) Xiao-xia Dong et al.   ACTA PHARMACOLOGICA SINICA

Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis

(2009) Jill M. Weimer et al.   BRAIN RESEARCH

Neuroprotection of Host Cells by Human Central Nervous System Stem Cells in a Mouse Model of Infantile Neuronal Ceroid Lipofuscinosis

(2009) Stanley J. Tamaki et al.   Cell Stem Cell

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

(2009) R Kohan et al.   CLINICAL GENETICS

NovelCLN8mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis

(2009) K Reinhardt et al.   CLINICAL GENETICS

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Cerebellar pathology and motor deficits in the palmitoyl protein thioesterase 1-deficient mouse

(2009) Shannon L. Macauley et al.   EXPERIMENTAL NEUROLOGY

Neurodevelopmental delay in theCln3Δex7/8mouse model for Batten disease

(2009) N. S. Osório et al.   GENES BRAIN AND BEHAVIOR

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease

(2009) C. Kielar et al.   HUMAN MOLECULAR GENETICS

Synaptic Changes in the Thalamocortical System of Cathepsin D-Deficient Mice

(2009) Sanna Partanen et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis

(2009) Jui-Yun Lu et al.   MOLECULAR GENETICS AND METABOLISM

Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease)

(2009) Graham W. Kay et al.   NEUROCHEMISTRY INTERNATIONAL

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

(2008) Karen Fritchie et al.   ACTA NEUROPATHOLOGICA

Neuronal ceroid lipofuscinoses

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

Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis by CNS Administration of a Serotype 2 Adeno-Associated Virus Expressing CLN2 cDNA

(2008) Stefan Worgall et al.   HUMAN GENE THERAPY

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism

(2008) Annina Lyly 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

Intraventricular Enzyme Replacement Improves Disease Phenotypes in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis

(2008) Michael Chang et al.   MOLECULAR THERAPY

INTERMITTENT PREDNISOLONE AND AUTOANTIBODIES TO GAD65 IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

(2008) L. Aberg et al.   NEUROLOGY

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY

Endogenous and synthetic neurosteroids in treatment of Niemann–Pick Type C disease

(2007) Synthia H. Mellon et al.   BRAIN RESEARCH REVIEWS

Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease

(2007) Attila D. Kovács et al.   EXPERIMENTAL NEUROLOGY

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis

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

Identification of α-fetoprotein as an autoantigen in juvenile Batten disease

(2007) Julian A. Castaneda et al.   NEUROBIOLOGY OF DISEASE