Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis

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

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

Antisense oligonucleotide–directed inhibition of nonsense-mediated mRNA decay

(2015) Tomoki T Nomakuchi et al.   NATURE BIOTECHNOLOGY

Early treatment is associated with improved cognition in Hurler syndrome

(2014) Michele D. Poe et al.   ANNALS OF NEUROLOGY

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

2-Hydroxypropyl-β-cyclodextrin Promotes Transcription Factor EB-mediated Activation of Autophagy

(2014) Wensi Song et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Phytoestrogen Genistein Modulates Lysosomal Metabolism and Transcription Factor EB (TFEB) Activation

(2014) Marta Moskot et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Combination-targeting to multiple endothelial cell adhesion molecules modulates binding, endocytosis, and in vivo biodistribution of drug nanocarriers and their therapeutic cargoes

(2014) Iason Papademetriou et al.   JOURNAL OF CONTROLLED RELEASE

Gene therapy for the neurological manifestations in lysosomal storage disorders

(2014) Seng H. Cheng   JOURNAL OF LIPID RESEARCH

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

Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease)

(2014) Martin L. Katz et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

(2014) Sondra W Levin et al.   LANCET NEUROLOGY

The Dharma of Nonsense-Mediated mRNA Decay in Mammalian Cells

(2014) Maximilian Wei-Lin Popp et al.   MOLECULES AND CELLS

Nonsense-mediated decay in genetic disease: Friend or foe?

(2014) Jake N. Miller et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Evidence for Aberrant Astrocyte Hemichannel Activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)

(2014) Maria Burkovetskaya et al.   PLoS One

Recombinant human tripeptidyl peptidase-1 infusion to the monkey CNS: Safety, pharmacokinetics, and distribution

(2014) Brian R. Vuillemenot et al.   TOXICOLOGY AND APPLIED PHARMACOLOGY

Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

(2014) Kavitha Siva et al.   Nucleic Acid Therapeutics

N-acetylcysteine (NAC) in neurological disorders: mechanisms of action and therapeutic opportunities

(2014) Reza Bavarsad Shahripour et al.   Brain and Behavior

What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease

(2013) Erin J. Feeney et al.   Autophagy

Nonsense-mediated mRNA decay — Mechanisms of substrate mRNA recognition and degradation in mammalian cells

(2013) Christoph Schweingruber et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

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

(2013) Janos Groh et al.   BRAIN

A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation

(2013) Fahad Mahmood et al.   BRAIN

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA

(2013) Nicolina Cristina Sorrentino et al.   EMBO Molecular Medicine

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

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

Deletion of tumor necrosis factor-α ameliorates neurodegeneration in Sandhoff disease mice

(2013) Hatem Abo-ouf et al.   HUMAN MOLECULAR GENETICS

TFEB regulates lysosomal proteostasis

(2013) Wensi Song et al.   HUMAN MOLECULAR GENETICS

Classification and Natural History of the Neuronal Ceroid Lipofuscinoses

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

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1

(2013) Stephanie M. Cologna et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mucopolysaccharide diseases: A complex interplay between neuroinflammation, microglial activation and adaptive immunity

(2013) Louise D. Archer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype

(2013) Juan Xiong et al.   JOURNAL OF NEUROCHEMISTRY

Chronic oral administration of minocycline to sheep with ovine CLN6 neuronal ceroid lipofuscinosis maintains pharmacological concentrations in the brain but does not suppress neuroinflammation or disease progression

(2013) Graham W Kay et al.   Journal of Neuroinflammation

Lanthionine ketimine ethyl ester partially rescues neurodevelopmental defects inunc-33(DPYSL2/CRMP2) mutants

(2013) Caleb Hubbard et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

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

Effective Intravenous Therapy for Neurodegenerative Disease With a Therapeutic Enzyme and a Peptide That Mediates Delivery to the Brain

(2013) Yu Meng et al.   MOLECULAR THERAPY

Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness

(2013) Jennifer J Lentz et al.   NATURE MEDICINE

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

(2013) Chinmoy Sarkar et al.   NATURE NEUROSCIENCE

Lysosomal storage diseases—the horizon expands

(2013) Rose-Mary Naaman Boustany   Nature Reviews Neurology

Progress in gene therapy for neurological disorders

(2013) Michele Simonato et al.   Nature Reviews Neurology

Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression

(2013) Kim M. Keeling et al.   PLoS One

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood-brain barrier

(2013) D. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting RNA splicing for disease therapy

(2013) Mallory A. Havens et al.   Wiley Interdisciplinary Reviews-RNA

Advances in the treatment of neuronal ceroid lipofuscinosis

(2013) Dolan Sondhi et al.   Expert Opinion on Orphan Drugs

Clinical Therapy Using iPSCs: Hopes and Challenges

(2013) Xiao Lu et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

A high-throughput screening assay using Krabbe disease patient cells

(2012) Jameson Ribbens et al.   ANALYTICAL BIOCHEMISTRY

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

Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease

(2012) Einat B. Vitner et al.   BRAIN

Gene Therapy Approaches for Lysosomal Storage Disease: Next-Generation Treatment

(2012) Barry J. Byrne et al.   HUMAN GENE THERAPY

The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol

(2012) Arjun Saha et al.   HUMAN MOLECULAR GENETICS

δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders

(2012) Miao Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Antisense-based therapy for the treatment of spinal muscular atrophy

(2012) Frank Rigo et al.   JOURNAL OF CELL BIOLOGY

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

Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor

(2012) Jason Papademetriou et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Europe gives gene therapy the green light

(2012) Karl Gruber   LANCET

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

Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

(2012) Kamal KE Gadalla et al.   MOLECULAR THERAPY

The promise of induced pluripotent stem cells in research and therapy

(2012) Daisy A. Robinton et al.   NATURE

A call for transparent reporting to optimize the predictive value of preclinical research

(2012) Story C. Landis et al.   NATURE

Therapeutic Effects of Stem Cells and Substrate Reduction in Juvenile Sandhoff Mice

(2012) J. R. Arthur et al.   NEUROCHEMICAL RESEARCH

A derivative of the CRMP2 binding compound lanthionine ketimine provides neuroprotection in a mouse model of cerebral ischemia

(2012) Shadia E. Nada et al.   NEUROCHEMISTRY INTERNATIONAL

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

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

Adeno-associated virus (AAV) gene therapy for neurological disease

(2012) Marc S. Weinberg et al.   NEUROPHARMACOLOGY

Dysregulation of Gene Expression in a Lysosomal Storage Disease Varies between Brain Regions Implicating Unexpected Mechanisms of Neuropathology

(2012) Michael K. Parente et al.   PLoS One

Systemic Administration of Tripeptidyl Peptidase I in a Mouse Model of Late Infantile Neuronal Ceroid Lipofuscinosis: Effect of Glycan Modification

(2012) Yu Meng et al.   PLoS One

Long-Term Expression and Safety of Administration of AAVrh.10hCLN2 to the Brain of Rats and Nonhuman Primates for the Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis

(2012) Dolan Sondhi et al.   Human Gene Therapy Methods

Regulation of nonsense-mediated mRNA decay

(2012) Lulu Huang et al.   Wiley Interdisciplinary Reviews-RNA

Protective potential of resveratrol against oxidative stress and apoptosis in Batten disease lymphoblast cells

(2011) Dong-Ho Yoon et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report

(2011) W. P. Miller et al.   BLOOD

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

(2011) Diego L. Medina et al.   DEVELOPMENTAL CELL

Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs

(2011) T Federici et al.   GENE THERAPY

Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

(2011) Raymond Y Wang et al.   GENETICS IN MEDICINE

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

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri 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

The Role of Attenuated Astrocyte Activation in Infantile Neuronal Ceroid Lipofuscinosis

(2011) S. L. Macauley et al.   JOURNAL OF NEUROSCIENCE

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients

(2011) Chinmoy Sarkar et al.   MOLECULAR GENETICS AND METABOLISM

The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse

(2011) Dan Wang et al.   MOLECULAR GENETICS AND METABOLISM

Collapsin Response Mediator Protein-2: An Emerging Pathologic Feature and Therapeutic Target for Neurodisease Indications

(2011) Kenneth Hensley et al.   MOLECULAR NEUROBIOLOGY

Reversal of Lysosomal Storage in Brain of Adult MPS-I Mice with Intravenous Trojan Horse-Iduronidase Fusion Protein

(2011) Ruben J. Boado et al.   MOLECULAR PHARMACEUTICS

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

(2011) Su Xu et al.   MOLECULAR THERAPY

Preclinical Differences of Intravascular AAV9 Delivery to Neurons and Glia: A Comparative Study of Adult Mice and Nonhuman Primates

(2011) Steven J Gray et al.   MOLECULAR THERAPY

Neural Stem Cell Transplantation as a Therapeutic Approach for Treating Lysosomal Storage Diseases

(2011) Lamya S. Shihabuddin et al.   Neurotherapeutics

Cell-Based Therapy for Neural Disorders — Anticipating Challenges

(2011) Arlene Y. Chiu et al.   Neurotherapeutics

Novel Patient Cell-Based HTS Assay for Identification of Small Molecules for a Lysosomal Storage Disease

(2011) Haifeng Geng et al.   PLoS One

Neural Stem Cell Gene Therapy Ameliorates Pathology and Function in a Mouse Model of Globoid Cell Leukodystrophy

(2011) Margherita Neri et al.   STEM CELLS

Clarifying lysosomal storage diseases

(2011) Mark L. Schultz et al.   TRENDS IN NEUROSCIENCES

Mechanisms Underlying Inflammation in Neurodegeneration

(2010) Christopher K. Glass et al.   CELL

Immunosuppression alters disease severity in juvenile Batten disease mice

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

Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response

(2010) Smruti Killedar et al.   Journal of Neuroinflammation

Proteomic Identification of Binding Partners for the Brain Metabolite Lanthionine Ketimine (LK) and Documentation of LK Effects on Microglia and Motoneuron Cell Cultures

(2010) K. Hensley et al.   JOURNAL OF NEUROSCIENCE

Intracerebellar Transplantation of Neural Stem Cells into Mice with Neurodegeneration Improves Neuronal Networks with Functional Synaptic Transmission

(2010) Ji Min LEE et al.   JOURNAL OF VETERINARY MEDICAL SCIENCE

Emerging Biological Importance of Central Nervous System Lanthionines

(2010) Kenneth Hensley et al.   MOLECULES

New biotechnological and nanomedicine strategies for treatment of lysosomal storage disorders

(2010) Silvia Muro   Wiley Interdisciplinary Reviews-Nanomedicine and Nanobiotechnology

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

Lacosamide

(2009) Giulia Curia et al.   CNS DRUGS

Promising CNS-directed enzyme replacement therapy for lysosomal storage diseases

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

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

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

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

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

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in theNPC1gene causing Niemann-Pick type C disease

(2009) Laura Rodríguez-Pascau et al.   HUMAN MUTATION

Structural aspects of therapeutic enzymes to treat metabolic disorders

(2009) Tse Siang Kang et al.   HUMAN MUTATION

Protein product ofCLN6gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2

(2009) Jared W. Benedict et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

(2009) Robert F. Wynn et al.   JOURNAL OF PEDIATRICS

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

Neural Stem Cell Transplantation Benefits a Monogenic Neurometabolic Disorder During the Symptomatic Phase of Disease

(2009) Mylvaganam Jeyakumar et al.   STEM CELLS

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

(2008) Carina von Schantz et al.   BMC GENOMICS

Moving towards therapies for Juvenile Batten disease?

(2008) Jonathan D. Cooper   EXPERIMENTAL NEUROLOGY

Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis

(2008) Dolan Sondhi et al.   EXPERIMENTAL NEUROLOGY

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

Delivery of Acid Sphingomyelinase in Normal and Niemann-Pick Disease Mice Using Intercellular Adhesion Molecule-1-Targeted Polymer Nanocarriers

(2008) C. Garnacho et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

(2008) Eitan Kerem et al.   LANCET

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

(2008) Michael Chang et al.   MOLECULAR THERAPY

Neurons derived from reprogrammed fibroblasts functionally integrate into the fetal brain and improve symptoms of rats with Parkinson's disease

(2008) M. Wernig et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA