Advances in the treatment of neuronal ceroid lipofuscinosis

Special issue: Molecular basis of the NCLs

(2013) Sara E. Mole et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses

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

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease)

(2013) Jacqueline A. Hawkins-Salsbury et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

NCL disease mechanisms

(2013) David N. Palmer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Use of model organisms for the study of neuronal ceroid lipofuscinosis

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

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins

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

NCL diseases — clinical perspectives

(2013) Angela Schulz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A next step in adeno-associated virus-mediated gene therapy for neurological diseases: regulation and targeting

(2013) Abdelwahed Chtarto et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates

(2013) S J Gray et al.   GENE THERAPY

Receiving Enzyme Replacement Therapy for a Lysosomal Storage Disorder: A Preliminary Exploration of the Experiences of Young Patients and Their Families

(2013) R. Freedman et al.   Journal of Genetic Counseling

Blood–brain barrier structure and function and the challenges for CNS drug delivery

(2013) N. Joan Abbott   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Animal models for metabolic, neuromuscular and ophthalmological rare diseases

(2013) Guillaume Vaquer et al.   NATURE REVIEWS DRUG DISCOVERY

Neuroinflammation and oxidative stress: Co-conspirators in the pathology of Parkinson’s disease

(2013) Juliet M. Taylor et al.   NEUROCHEMISTRY INTERNATIONAL

Emerging therapies and therapeutic concepts for lysosomal storage diseases

(2013) Thomas Kirkegaard   Expert Opinion on Orphan Drugs

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

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

Bioinformatic perspectives in the neuronal ceroid lipofuscinoses

(2012) Stanislav Kmoch et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

The gene therapy journey for hemophilia: are we there yet?

(2012) K. A. High   BLOOD

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

(2012) John J. Shacka   BRAIN RESEARCH BULLETIN

Paediatric use of mycophenolate mofetil

(2012) Heather J. Downing et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

Why Is It Taking So Long to Develop Clinically Competitive Stem Cell Therapies for CNS Disorders?

(2012) Olle Lindvall   Cell Stem Cell

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

Is the ketogenic diet effective in specific epilepsy syndromes?

(2012) Srishti Nangia et al.   EPILEPSY RESEARCH

New AMPA antagonists in epilepsy

(2012) Emilio Russo et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Treatment options for lysosomal storage disorders: developing insights

(2012) Carin M van Gelder et al.   EXPERT OPINION ON PHARMACOTHERAPY

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

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

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

Sialic Acid Deposition Impairs the Utility of AAV9, but Not Peptide-modified AAVs for Brain Gene Therapy in a Mouse Model of Lysosomal Storage Disease

(2012) Yong Hong Chen et al.   MOLECULAR THERAPY

Glybera and the future of gene therapy in the European Union

(2012) Norman Miller   NATURE REVIEWS DRUG DISCOVERY

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

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

Gene therapy and neurodevelopmental disorders

(2012) Steven James Gray   NEUROPHARMACOLOGY

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

(2012) Marc S. Weinberg et al.   NEUROPHARMACOLOGY

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

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

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

Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses

(2011) R. Kohan et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Imaging gene delivery in a mouse model of congenital neuronal ceroid lipofuscinosis

(2011) L S Pike et al.   GENE THERAPY

Lentiviral-Mediated Gene Transfer to the Sheep Brain: Implications for Gene Therapy in Batten Disease

(2011) Kathryn S. Linterman et al.   HUMAN GENE THERAPY

Genetic therapy for the nervous system

(2011) W. J. Bowers et al.   HUMAN MOLECULAR GENETICS

Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?

(2011) J. A. Hawkins-Salsbury 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

Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data

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

Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis

(2011) Brian R. Vuillemenot et al.   MOLECULAR GENETICS AND METABOLISM

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(2011) Anne-Helene Lebrun et al.   MOLECULAR MEDICINE

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

(2011) Su Xu et al.   MOLECULAR THERAPY

Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-Blood–Brain Barrier Gene Delivery

(2011) Haiyan Fu et al.   MOLECULAR THERAPY

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

(2011) J. Cialone et al.   NEUROLOGY

Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease)

(2011) J. M. Kwon et al.   NEUROLOGY

Translating Stem Cell Studies to the Clinic for CNS Repair: Current State of the Art and the Need for a Rosetta Stone

(2011) Karen Aboody et al.   NEURON

Antioxidant treatment in Spielmeyer-Sjögren's disease

(2010) Pirkko Santavuori et al.   ACTA NEUROLOGICA SCANDINAVICA

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

The neuronal ceroid lipofuscinoses: the same, but different?

(2010) Jonathan D. Cooper   BIOCHEMICAL SOCIETY TRANSACTIONS

Current therapies for the soluble lysosomal forms of neuronal ceroid lipofuscinosis

(2010) Andrew M.S. Wong et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function

(2010) Amanda L. Getty et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Batten's disease: failure of allogeneic bone marrow transplantation to arrest disease progression in a canine model

(2010) H. Joachim Deeg et al.   CLINICAL GENETICS

JUVENILE NEURONAL CEROID LIPOFUSCINOSIS: DEVELOPMENTAL PROGRESS AFTER SUPPLEMENTATION WITH POLYUNSATURATED FATTY ACIDS

(2010) Michael J. Bennett et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Prevalence of Serum IgG and Neutralizing Factors Against Adeno-Associated Virus (AAV) Types 1, 2, 5, 6, 8, and 9 in the Healthy Population: Implications for Gene Therapy Using AAV Vectors

(2010) Sylvie Boutin et al.   HUMAN GENE THERAPY

Immunosuppression alters disease severity in juvenile Batten disease mice

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

Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations

(2010) Mark M. Souweidane et al.   Journal of Neurosurgery-Pediatrics

Therapeutic Efficacy of Bone Marrow Transplant, Intracranial AAV-mediated Gene Therapy, or Both in the Mouse Model of MPS IIIB

(2010) Coy D Heldermon et al.   MOLECULAR THERAPY

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

Omega-3 and omega-6 fatty acids suppress ER- and oxidative stress in cultured neurons and neuronal progenitor cells from mice lacking PPT1

(2010) Sung-Jo Kim et al.   NEUROSCIENCE LETTERS

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

Flupirtine: pharmacology and clinical applications of a nonopioid analgesic and potentially neuroprotective compound

(2009) C Klawe et al.   EXPERT OPINION ON PHARMACOTHERAPY

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

(2009) Alessandra Pangrazio et al.   HUMAN MUTATION

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

Protein acyl thioesterases (Review)

(2009) Ruth Zeidman et al.   MOLECULAR MEMBRANE BIOLOGY

Structure and function of the blood–brain barrier

(2009) N. Joan Abbott et al.   NEUROBIOLOGY OF DISEASE

Stem cell transplantation for neurometabolic and neurodegenerative diseases

(2009) Lamya S. Shihabuddin et al.   NEUROPHARMACOLOGY

Neuronal ceroid lipofuscinoses

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

The Role of AMPA receptor modulation in the treatment of neuropsychiatric diseases

(2008) Carlos A. Zarate et al.   EXPERIMENTAL NEUROLOGY

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

(2008) Dolan Sondhi et al.   EXPERIMENTAL NEUROLOGY

The ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial

(2008) Elizabeth G Neal et al.   LANCET NEUROLOGY

Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis

(2008) David E. Sleat et al.   MOLECULAR GENETICS AND METABOLISM

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

(2008) Michael Chang et al.   MOLECULAR THERAPY

Expanded Repertoire of AAV Vector Serotypes Mediate Unique Patterns of Transduction in Mouse Brain

(2008) Cassia N Cearley et al.   MOLECULAR THERAPY

Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment

(2008) Jinhai Wang et al.   NATURE BIOTECHNOLOGY

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

INTERMITTENT PREDNISOLONE AND AUTOANTIBODIES TO GAD65 IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

(2008) L. Aberg et al.   NEUROLOGY

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

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