Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

(2018) Julie B Eisengart et al.   GENETICS IN MEDICINE

Adeno-Associated Virus Gene Therapy in a Sheep Model of Tay–Sachs Disease

(2018) Heather L. Gray-Edwards et al.   HUMAN GENE THERAPY

AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease)

(2018) Allison M. Bradbury et al.   HUMAN GENE THERAPY

A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)

(2018) Ping Wang et al.   BMC Veterinary Research

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis

(2017) Christian Hinderer et al.   HUMAN MOLECULAR GENETICS

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

(2017) Minyan Jiang et al.   METABOLIC BRAIN DISEASE

Lipid composition of microdomains is altered in neuronopathic Gaucher disease sheep brain and spleen

(2017) Leanne K. Hein et al.   MOLECULAR GENETICS AND METABOLISM

Long term survival of sheep with Tay-Sachs disease after intracranial delivery of a novel bicistronic AAV gene therapy vector

(2017) Heather L. Gray-Edwards et al.   MOLECULAR GENETICS AND METABOLISM

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model

(2017) Heather L. Gray-Edwards et al.   MOLECULAR THERAPY

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions

(2017) Martin L. Katz et al.   NEUROBIOLOGY OF DISEASE

Developmental outcomes of cord blood transplantation for Krabbe disease

(2017) Matthew D. Wright et al.   NEUROLOGY

AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease

(2017) Allison M. Bradbury et al.   NEUROSCIENCE

Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis

(2017) Yoshiko Matsubara et al.   PEDIATRIC RADIOLOGY

Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy

(2017) Heather L. Gray-Edwards et al.   Molecular Therapy-Methods & Clinical Development

Associations between neurologic dysfunction and lesions in canine fucosidosis

(2016) J. L. Fletcher et al.   GENES BRAIN AND BEHAVIOR

Slow, continuous enzyme replacement via spinal CSF in dogs with the paediatric-onset neurodegenerative disease, MPS IIIA

(2016) Barbara King et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA

(2016) Barbara King et al.   JOURNAL OF NEUROCHEMISTRY

Clinical, electrophysiological, and biochemical markers of peripheral and central nervous system disease in canine globoid cell leukodystrophy (Krabbe's disease)

(2016) Allison M. Bradbury et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Neonatal tolerance induction enables accurate evaluation of gene therapy for MPS I in a canine model

(2016) Christian Hinderer et al.   MOLECULAR GENETICS AND METABOLISM

Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1

(2016) Sea Young Yoon et al.   MOLECULAR THERAPY

Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII

(2016) Brittney L Gurda et al.   MOLECULAR THERAPY

Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease

(2016) Litsa Karageorgos et al.   NEUROBIOLOGY OF DISEASE

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs

(2016) Calogera M. Simonaro et al.   PLoS One

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy

(2016) Alexia Kagiava et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease

(2016) Irina A. Isakova et al.   Stem Cells Translational Medicine

AAV-Mediated Gene Delivery in a Feline Model of Sandhoff Disease Corrects Lysosomal Storage in the Central Nervous System

(2015) Hannah E. Rockwell et al.   ASN Neuro

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

(2015) Sara E. Mole et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

(2015) Allison M. Bradbury et al.   EXPERIMENTAL NEUROLOGY

Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I

(2015) James M. Provenzale et al.   EXPERIMENTAL NEUROLOGY

Delivery of therapeutic protein for prevention of neurodegenerative changes: Comparison of different CSF-delivery methods

(2015) Neil R. Marshall et al.   EXPERIMENTAL NEUROLOGY

Diffusion Tensor Imaging for Assessing Brain Gray and White Matter Abnormalities in a Feline Model of α-Mannosidosis

(2015) Manoj Kumar et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy

(2015) Heather L. Gray-Edwards et al.   MOLECULAR GENETICS AND METABOLISM

Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

(2015) Mohammad A Rafi et al.   MOLECULAR THERAPY

The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis

(2015) Gauthami Sudhamayee Kondagari et al.   Orphanet Journal of Rare Diseases

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

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1)

(2014) Brett Tortelli et al.   HUMAN MOLECULAR GENETICS

Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brain

(2014) Barbara King et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Oligodendrocyte Loss During the Disease Course in a Canine Model of the Lysosomal Storage Disease Fucosidosis

(2014) Jessica L. Fletcher et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I

(2014) Christian Hinderer et al.   MOLECULAR THERAPY

Liver-directed gene therapy corrects cardiovascular lesions in feline mucopolysaccharidosis type I

(2014) C. Hinderer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sphingomyelin Lipidosis (Niemann–Pick Disease) in a Juvenile Raccoon (Procyon lotor)

(2013) N. Vapniarsky et al.   JOURNAL OF COMPARATIVE PATHOLOGY

Electrodiagnostic Testing and Histopathologic Changes Confirm Peripheral Nervous System Myelin Abnormalities in the Feline Model of Niemann-Pick Disease Type C

(2013) Jessica H. Bagel et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade

(2013) Elizabeth M. Xing et al.   MOLECULAR GENETICS AND METABOLISM

The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade

(2013) Paul W. Bigg et al.   MOLECULAR GENETICS AND METABOLISM

Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy

(2013) Allison M Bradbury et al.   MOLECULAR THERAPY

Corrective GUSB Transfer to the Canine Mucopolysaccharidosis VII Brain

(2013) Aurelie Cubizolle et al.   MOLECULAR THERAPY

A Nonsense Mutation in the Acid α-Glucosidase Gene Causes Pompe Disease in Finnish and Swedish Lapphunds

(2013) Eija H. Seppälä et al.   PLoS One

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII

(2012) Lachlan J. Smith et al.   MOLECULAR GENETICS AND METABOLISM

Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease

(2012) Mohammad A Rafi et al.   MOLECULAR THERAPY

Biodistribution and pharmacodynamics of recombinant human alpha-l-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations

(2011) Charles H. Vite et al.   MOLECULAR GENETICS AND METABOLISM

Canine Fucosidosis: A Neuroprogressive Disorder

(2011) Gauthami Sudhamayee Kondagari et al.   Neurodegenerative Diseases

Gaucher disease in sheep

(2010) Litsa Karageorgos et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Tay-Sachs disease in Jacob sheep

(2010) Paola A. Torres et al.   MOLECULAR GENETICS AND METABOLISM

Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I

(2010) Patricia I. Dickson et al.   MOLECULAR GENETICS AND METABOLISM

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

2-Hydroxypropyl-β-Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease

(2010) Sarah Ward et al.   PEDIATRIC RESEARCH

Pathology of GM2 Gangliosidosis in Jacob Sheep

(2010) B. F. Porter et al.   VETERINARY PATHOLOGY

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

(2009) Patricia K Duffner et al.   GENETICS IN MEDICINE

Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase β-subunit deficiency

(2009) Allison M. Bradbury et al.   MOLECULAR GENETICS AND METABOLISM

Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression

(2009) Jason A. Metcalf et al.   MOLECULAR GENETICS AND METABOLISM

Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats

(2009) Sergey Magnitsky et al.   NMR IN BIOMEDICINE

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lysosomal Storage Diseases and the Blood-Brain Barrier

(2008) David Begley et al.   CURRENT PHARMACEUTICAL DESIGN

Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis

(2008) Douglas R. Martin et al.   MOLECULAR GENETICS AND METABOLISM

Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy

(2008) Ramin Sedaghat Herati et al.   MOLECULAR GENETICS AND METABOLISM

Sphingomyelinase Deficiency (Niemann-Pick disease) in a Hereford Calf

(2008) G. K. Saunders et al.   VETERINARY PATHOLOGY

Apparent Diffusion Coefficient Reveals Gray and White Matter Disease, and T2 Mapping Detects White Matter Disease in the Brain in Feline Alpha-Mannosidosis

(2007) C.H. Vite et al.   AMERICAN JOURNAL OF NEURORADIOLOGY