Disease models for the development of therapies for lysosomal storage diseases

From rare to common and back again: 60years of lysosomal dysfunction

(2016) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-acetylgalactosamine 4-sulfatase after 6months of therapy in cats using different IV infusion durations

(2016) Therese Ruane et al.   MOLECULAR GENETICS AND METABOLISM

Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction

(2016) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Profile of eliglustat tartrate in the management of Gaucher disease

(2016) Annalisa Sechi et al.   Therapeutics and Clinical Risk Management

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Bridging the age spectrum of neurodegenerative storage diseases

(2015) Barry Boland et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system

(2015) Maurizio Scarpa et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

(2015) Sandra D.K. Kingma et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells

(2015) Ola Awad et al.   HUMAN MOLECULAR GENETICS

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+Homeostasis, Autophagy, and CLN3 Protein Function

(2015) Uma Chandrachud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial Quality Control via the PGC1 -TFEB Signaling Pathway Is Compromised by Parkin Q311X Mutation But Independently Restored by Rapamycin

(2015) A. Siddiqui et al.   JOURNAL OF NEUROSCIENCE

A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation

(2015) Mi-Young Son et al.   JOURNAL OF PATHOLOGY

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

Nutrient-sensing mechanisms and pathways

(2015) Alejo Efeyan et al.   NATURE

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

(2015) Konstantin Mechler et al.   Orphanet Journal of Rare Diseases

Making sense of amino acid sensing

(2015) R. T. Abraham   SCIENCE

Companion animals: Translational scientist’s new best friends

(2015) Amir Kol 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

Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis

(2015) Judi A. Sgambato et al.   Stem Cells Translational Medicine

Rescue of an In Vitro Neuron Phenotype Identified in Niemann-Pick Disease, Type C1 Induced Pluripotent Stem Cell-Derived Neurons by Modulating the WNT Pathway and Calcium Signaling

(2015) Anastasia G. Efthymiou et al.   Stem Cells Translational Medicine

Ex Vivo Gene Therapy Using Patient iPSC-Derived NSCs Reverses Pathology in the Brain of a Homologous Mouse Model

(2015) Tagan A. Griffin et al.   Stem Cell Reports

Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient

(2015) Yohei Sato et al.   Molecular Therapy-Methods & Clinical Development

Correction of lysosomal dysfunction as a therapeutic strategy for neurodegenerative diseases

(2014) Robert E. Boyd et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

iPS cells: a game changer for future medicine

(2014) H. Inoue et al.   EMBO JOURNAL

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

(2014) Brett Tortelli et al.   HUMAN MOLECULAR GENETICS

Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

(2014) Kunil K. Raval et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Where is mTOR and what is it doing there?

(2014) Charles Betz et al.   JOURNAL OF CELL BIOLOGY

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study

(2014) L. J. Anderson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Treatment of lysosomal storage disorders: successes and challenges

(2014) Carla E. M. Hollak et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs

(2014) Takashi Higuchi et al.   MOLECULAR GENETICS AND METABOLISM

Bidirectional links between Alzheimer's disease and Niemann–Pick type C disease

(2014) Martina Malnar et al.   NEUROBIOLOGY OF DISEASE

The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris

(2014) J. A. Martina et al.   Science Signaling

Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs

(2014) E. Aflaki et al.   Science Translational Medicine

Gaucher iPSC-Derived Macrophages Produce Elevated Levels of Inflammatory Mediators and Serve as a New Platform for Therapeutic Development

(2014) Leelamma M. Panicker et al.   STEM CELLS

iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis

(2014) David C. Schöndorf et al.   Nature Communications

Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells

(2014) Dorothea Maetzel et al.   Stem Cell Reports

Reprogrammed Cells for Disease Modeling and Regenerative Medicine

(2013) Anne B.C. Cherry et al.   Annual Review of Medicine

Animal models for lysosomal storage disorders

(2013) G. M. Pastores et al.   BIOCHEMISTRY-MOSCOW

Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study

(2013) David J. Kuter et al.   BLOOD CELLS MOLECULES AND DISEASES

The machinery of macroautophagy

(2013) Yuchen Feng et al.   CELL RESEARCH

A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis

(2013) Mohammad Samie et al.   DEVELOPMENTAL CELL

Phenotypic screens as a renewed approach for drug discovery

(2013) Wei Zheng et al.   DRUG DISCOVERY TODAY

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

(2013) Xenia Lojewski et al.   HUMAN MOLECULAR GENETICS

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

(2013) M. Haskins   ILAR JOURNAL

Clinical Trials in Rare Disease

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

Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp)

(2013) Shiho Kawagoe et al.   MOLECULAR GENETICS AND METABOLISM

Animal models for metabolic, neuromuscular and ophthalmological rare diseases

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

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

(2013) Michaela Trilck et al.   Orphanet Journal of Rare Diseases

Cost-effectiveness of enzyme replacement therapy for Fabry disease

(2013) Saskia M Rombach et al.   Orphanet Journal of Rare Diseases

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

(2013) Miriam Stampfer et al.   Orphanet Journal of Rare Diseases

The lysosome: from waste bag to potential therapeutic target

(2013) Hanna Appelqvist et al.   Journal of Molecular Cell Biology

A high-throughput screening assay using Krabbe disease patient cells

(2012) Jameson Ribbens et al.   ANALYTICAL BIOCHEMISTRY

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

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

(2012) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

(2012) Carmine Settembre et al.   EMBO JOURNAL

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

(2012) Gustavo Tiscornia 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

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Induced pluripotent stem cells: the new patient?

(2012) Milena Bellin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats

(2012) Dyane Auclair et al.   PEDIATRIC RESEARCH

High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase

(2012) Ehud Goldin et al.   PLoS One

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

(2012) L. M. Panicker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseases

(2012) Hsiang-Po Huang et al.   Stem Cell Research & Therapy

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

Intrathecal Enzyme Replacement Therapy for Mucopolysaccharidosis I: Translating Success in Animal Models to Patients

(2011) Patricia I. Dickson et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

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

Animal models for Gaucher disease research

(2011) T. Farfel-Becker et al.   Disease Models & Mechanisms

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells

(2011) Thomas Lemonnier et al.   HUMAN MOLECULAR GENETICS

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

(2011) Hsiang-Po Huang et al.   HUMAN MOLECULAR GENETICS

Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

(2011) Johannes M. F. G. Aerts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lysosomal positioning coordinates cellular nutrient responses

(2011) Viktor I. Korolchuk et al.   NATURE CELL BIOLOGY

Phase II failures: 2008–2010

(2011) John Arrowsmith   NATURE REVIEWS DRUG DISCOVERY

Phase III and submission failures: 2007–2010

(2011) John Arrowsmith   NATURE REVIEWS DRUG DISCOVERY

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

(2011) Haifeng Geng et al.   PLoS One

Therapy for the mucopolysaccharidoses

(2011) V. Valayannopoulos et al.   RHEUMATOLOGY

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Clarifying lysosomal storage diseases

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

Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)

(2010) J. Tolar et al.   BLOOD

Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair

(2010) Christina Tam et al.   JOURNAL OF CELL BIOLOGY

Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders

(2010) Kim M. Hemsley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

(2010) Anton I. Rosenbaum et al.   JOURNAL OF NEUROCHEMISTRY

Autophagy gone awry in neurodegenerative diseases

(2010) Esther Wong et al.   NATURE NEUROSCIENCE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Replacing the Enzyme  -L-Iduronidase at Birth Ameliorates Symptoms in the Brain and Periphery of Dogs with Mucopolysaccharidosis Type I

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

The lysosome and neurodegenerative diseases

(2009) L. Zhang et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

STI571 prevents apoptosis, tau phosphorylation and behavioural impairments induced by Alzheimer's β-amyloid deposits

(2008) Gonzalo I. Cancino et al.   BRAIN

Lysosomal Storage Diseases and the Blood-Brain Barrier

(2008) David Begley et al.   CURRENT PHARMACEUTICAL DESIGN

Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease

(2008) Alejandra R. Alvarez et al.   FASEB JOURNAL