Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to reality

Gene Therapy for Lysosomal Storage Diseases (LSDs) in Large Animal Models

(2013) M. Haskins   ILAR JOURNAL

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

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

Genistein: a natural isoflavone with a potential for treatment of genetic diseases

(2010) Grzegorz Węgrzyn et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II

(2010) A Friso et al.   BRITISH JOURNAL OF PHARMACOLOGY

Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice

(2010) Adeline A. Lau et al.   EXPERIMENTAL NEUROLOGY

Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy

(2010) Vinicia Assunta Polito et al.   HUMAN MOLECULAR GENETICS

Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones

(2010) Audrey Arfi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice

(2010) Ulla Dunder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones

(2010) W. C. Lee et al.   JOURNAL OF NEUROSCIENCE

Gene therapy for late infantile neuronal ceroid lipofuscinosis: neurosurgical considerations

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

A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice

(2010) Giovanna Pannuzzo et al.   MOLECULAR GENETICS AND METABOLISM

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

(2010) Joe T.R. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

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

Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes

(2010) N Matthew Ellinwood et al.   MOLECULAR THERAPY

Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders

(2010) Jaap J. Boelens et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease

(2010) Marcelina Malinowska et al.   PLoS One

Genetic Engineering of a Bifunctional IgG Fusion Protein with Iduronate-2-Sulfatase

(2009) Jeff Zhiqiang Lu et al.   BIOCONJUGATE CHEMISTRY

Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy

(2009) Paola Luzi 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

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

(2009) Hsiang-Yu Lin et al.   Circulation-Cardiovascular Genetics

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

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease

(2009) Kim M. Hemsley et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

(2009) Barbara E Shapiro et al.   GENETICS IN MEDICINE

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION

AGT-181: Expression in CHO cells and pharmacokinetics, safety, and plasma iduronidase enzyme activity in Rhesus monkeys

(2009) Ruben J. Boado et al.   JOURNAL OF BIOTECHNOLOGY

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

Genetic engineering of IgG-glucuronidase fusion proteins

(2009) Ruben J. Boado et al.   JOURNAL OF DRUG TARGETING

Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs—A proof of principle study

(2009) Kim M. Hemsley et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

(2009) Gustavo H.B. Maegawa et al.   MOLECULAR GENETICS AND METABOLISM

Substrate reduction therapy in juvenile GM2 gangliosidosis

(2009) Gustavo H.B. Maegawa et al.   MOLECULAR GENETICS AND METABOLISM

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

(2009) Marcelina Malinowska et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy

(2009) Ulrich Matzner et al.   MOLECULAR THERAPY

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1

(2009) David Smith et al.   NEUROBIOLOGY OF DISEASE

Newborn Screening for Krabbe Disease: the New York State Model

(2009) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

CNS-directed gene therapy for lysosomal storage diseases

(2008) Mark S Sands et al.   ACTA PAEDIATRICA

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

(2008) Ewa Piotrowska et al.   CURRENT THERAPEUTIC RESEARCH-CLINICAL AND EXPERIMENTAL

Intracerebroventricular infusion of acid sphingomyelinase corrects CNS manifestations in a mouse model of Niemann–Pick A disease

(2008) James C. Dodge et al.   EXPERIMENTAL NEUROLOGY

Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice

(2008) K. M. Hemsley et al.   GENES BRAIN AND BEHAVIOR

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

Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in α-mannosidosis mice

(2008) Judith Blanz et al.   HUMAN MOLECULAR GENETICS

Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice

(2008) Adriana M. Montaño et al.   MOLECULAR GENETICS AND METABOLISM

Mannose 6-Phosphate Receptor–mediated Transport of Sulfamidase Across the Blood–brain Barrier in the Newborn Mouse

(2008) Akihiko Urayama et al.   MOLECULAR THERAPY

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

(2008) Michael Chang et al.   MOLECULAR THERAPY

Targeting of the CNS in MPS-IH Using a Nonviral Transferrin-α-l-iduronidase Fusion Gene Product

(2008) Mark J Osborn et al.   MOLECULAR THERAPY

Chemically modified  -glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII

(2008) J. H. Grubb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY