Emptying the stores: lysosomal diseases and therapeutic strategies

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

(2017) Nadia Belmatoug et al.   European Journal of Internal Medicine

From Lysosomal Storage Diseases to NKT Cell Activation and Back

(2017) Cátia Pereira et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Lucerastat, an Iminosugar for Substrate Reduction Therapy: Pharmacokinetics, Tolerability, and Safety in Subjects With Mild, Moderate, and Severe Renal Function Impairment

(2017) Nicolas Guérard et al.   JOURNAL OF CLINICAL PHARMACOLOGY

Enzyme replacement therapy and beyond—in memoriam Roscoe O. Brady, M.D. (1923–2016)

(2017) Markus Ries   JOURNAL OF INHERITED METABOLIC DISEASE

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues

(2017) Robert J. Desnick et al.   MOLECULAR GENETICS AND METABOLISM

The metabolism of glucocerebrosides — From 1965 to the present

(2017) Anthony H. Futerman et al.   MOLECULAR GENETICS AND METABOLISM

Gaucher disease: Progress and ongoing challenges

(2017) Pramod K. Mistry et al.   MOLECULAR GENETICS AND METABOLISM

Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease

(2017) Manoj K. Pandey et al.   NATURE

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease

(2017) Elma Aflaki et al.   NEURON

Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects

(2017) N. Guérard et al.   Orphanet Journal of Rare Diseases

Lysosomal cholesterol activates mTORC1 via an SLC38A9–Niemann-Pick C1 signaling complex

(2017) Brian M. Castellano et al.   SCIENCE

Type 1 Gaucher disease (CYP2D6-eliglustat)

(2017) Laurent Becquemont   THERAPIE

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

(2016) Beth L. Thurberg et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Disease models for the development of therapies for lysosomal storage diseases

(2016) Miao Xu et al.   Annals of the New York Academy of Sciences

Early Combination Antiretroviral Therapy Limits HIV-1 Persistence in Children

(2016) Katherine Luzuriaga   Annual Review of Medicine

Neuronal sphingolipidoses: Membrane lipids and sphingolipid activator proteins regulate lysosomal sphingolipid catabolism

(2016) Konrad Sandhoff   BIOCHIMIE

Induction of heat shock proteins in differentiated human neuronal cells following co-application of celastrol and arimoclomol

(2016) Catherine A. S. Deane et al.   CELL STRESS & CHAPERONES

History of Orphan Drug Regulation-United States and Beyond

(2016) ME Haffner   CLINICAL PHARMACOLOGY & THERAPEUTICS

Role of Nanotechnology for Enzyme Replacement Therapy in Lysosomal Diseases. A Focus on Gaucher’s Disease

(2016) L. Martín-Banderas et al.   CURRENT MEDICINAL CHEMISTRY

Key strategic factors for stakeholders in the current global biosimilar market

(2016) Daniel Casey   DRUG DISCOVERY TODAY

Migalastat: First Global Approval

(2016) Anthony Markham   DRUGS

The awesome lysosome

(2016) A. Ballabio   EMBO Molecular Medicine

Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease

(2016) Olive Jung et al.   Expert Review of Proteomics

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease

(2016) Francesca Mazzacuva et al.   FEBS LETTERS

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

(2016) Joseph J. Orsini et al.   GENETICS IN MEDICINE

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

(2016) Melissa P. Wasserstein et al.   GENETICS IN MEDICINE

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

(2016) Derralynn A Hughes et al.   JOURNAL OF MEDICAL GENETICS

A New Glucocerebrosidase Chaperone Reduces  -Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

(2016) E. Aflaki et al.   JOURNAL OF NEUROSCIENCE

CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease

(2016) John Marshall et al.   MOLECULAR THERAPY

Current Progress in Therapeutic Gene Editing for Monogenic Diseases

(2016) Versha Prakash et al.   MOLECULAR THERAPY

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

(2016) Valentina Citro et al.   PLoS One

Predictors of health-related quality of life in people with a complex chronic disease including multimorbidity: a longitudinal cohort study

(2016) Zephanie Tyack et al.   QUALITY OF LIFE RESEARCH

Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses

(2016) Thomas Kirkegaard et al.   Science Translational Medicine

Targeting protein homeostasis in sporadic inclusion body myositis

(2016) Mhoriam Ahmed et al.   Science Translational Medicine

Galactosialidosis: historic aspects and overview of investigated and emerging treatment options

(2016) Ida Annunziata et al.   Expert Opinion on Orphan Drugs

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

(2016) Aya Narita et al.   Annals of Clinical and Translational Neurology

Gaucher disease and comorbidities: B-cell malignancy and parkinsonism

(2015) Timothy M. Cox et al.   AMERICAN JOURNAL OF HEMATOLOGY

Lysosomal Storage Diseases: From Pathophysiology to Therapy

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

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

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

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

(2015) Inés Adriana Cismondi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Genetics of the neuronal ceroid lipofuscinoses (Batten disease)

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

Globotriaosylceramide inhibits iNKT-cell activation in a CD1d-dependent manner

(2015) Catia S. Pereira et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Current molecular genetics strategies for the diagnosis of lysosomal storage disorders

(2015) Roberto Giugliani et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Lysosomal proteins in cell death and autophagy

(2015) Michaela Mrschtik et al.   FEBS Journal

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

Gene therapy for lysosomal storage disorders: a good start

(2015) Alessandra Biffi   HUMAN MOLECULAR GENETICS

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations

(2015) Mohammad Arif Hossain et al.   JOURNAL OF HUMAN GENETICS

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

(2015) Coleman T. Turgeon et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lysosomal storage disease: Gene therapy on both sides of the blood–brain barrier

(2015) Elena L. Aronovich et al.   MOLECULAR GENETICS AND METABOLISM

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

(2015) Melissa P. Wasserstein et al.   MOLECULAR GENETICS AND METABOLISM

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

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

(2015) Diego L. Medina et al.   NATURE CELL BIOLOGY

Therapeutic genome editing: prospects and challenges

(2015) David Benjamin Turitz Cox et al.   NATURE MEDICINE

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

Newborn screening for lysosomal storage disorders

(2015) Dietrich Matern et al.   SEMINARS IN PERINATOLOGY

Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids

(2015) Marta Moskot et al.   Scientific Reports

Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

(2014) Frances M. Platt et al.   Annual Review of Genomics and Human Genetics

Therapeutics Based on Stop Codon Readthrough

(2014) Kim M. Keeling et al.   Annual Review of Genomics and Human Genetics

The application of glycosphingolipid arrays to autoantibody detection in neuroimmunological disorders

(2014) Francesc Galban-Horcajo et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Pharmacological chaperone therapy for lysosomal storage diseases

(2014) Giancarlo Parenti et al.   Future Medicinal Chemistry

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

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

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

(2014) Danielle te Vruchte et al.   JOURNAL OF CLINICAL INVESTIGATION

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

(2014) Carin M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Gene therapy for the neurological manifestations in lysosomal storage disorders

(2014) Seng H. Cheng   JOURNAL OF LIPID RESEARCH

Ashkenazi Jewish population screening for Tay-Sachs disease: The International and Australian experience

(2014) Raelia M Lew et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

Improved neuroprotection using miglustat, curcumin and ibuprofen as a triple combination therapy in Niemann–Pick disease type C1 mice

(2014) Ian M. Williams et al.   NEUROBIOLOGY OF DISEASE

Lysosomal Adaptation: How the Lysosome Responds to External Cues

(2014) C. Settembre et al.   Cold Spring Harbor Perspectives in Biology

Antisense Oligonucleotide-mediated Suppression of Muscle Glycogen Synthase 1 Synthesis as an Approach for Substrate Reduction Therapy of Pompe Disease

(2014) Nicholas P Clayton et al.   Molecular Therapy-Nucleic Acids

Competing for the treasure in exceptions

(2013) Timothy M. Cox   AMERICAN JOURNAL OF HEMATOLOGY

Animal models for lysosomal storage disorders

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

Maladie de Niemann-Pick de type C chez l’adulte et troubles psychiatriques : revue de littérature

(2013) A. Maubert et al.   ENCEPHALE-REVUE DE PSYCHIATRIE CLINIQUE BIOLOGIQUE ET THERAPEUTIQUE

From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World

(2013) John J.P. Kastelein et al.   HUMAN GENE THERAPY

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

(2013) Martin Fan et al.   JOURNAL OF LIPID RESEARCH

An Extended Proteome Map of the Lysosomal Membrane Reveals Novel Potential Transporters

(2013) Agnès Chapel et al.   MOLECULAR & CELLULAR PROTEOMICS

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects

(2013) R. Giugliani et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal integral membrane protein-2: A new player in lysosome-related pathology

(2013) Ashley Gonzalez et al.   MOLECULAR GENETICS AND METABOLISM

Chaperone Therapy for GM2 Gangliosidosis: Effects of Pyrimethamine on β-Hexosaminidase Activity in Sandhoff Fibroblasts

(2013) Elena Chiricozzi et al.   MOLECULAR NEUROBIOLOGY

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The role of heat shock proteins in Amyotrophic Lateral Sclerosis: The therapeutic potential of Arimoclomol

(2013) Bernadett Kalmar et al.   PHARMACOLOGY & THERAPEUTICS

Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones

(2013) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lysosomal Membrane Proteins and Their Central Role in Physiology

(2013) Michael Schwake et al.   TRAFFIC

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

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

(2012) Zhuo Luan et al.   BRAIN & DEVELOPMENT

Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C

(2012) Anneliese O. Speak et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency

(2012) F. Majer et al.   GENE

Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1

(2012) Celine V.M. Cluzeau et al.   HUMAN MOLECULAR GENETICS

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Discovery, Structure–Activity Relationship, and Biological Evaluation of Noninhibitory Small Molecule Chaperones of Glucocerebrosidase

(2012) Samarjit Patnaik et al.   JOURNAL OF MEDICINAL CHEMISTRY

Epidemiology of multimorbidity and implications for health care, research, and medical education: a cross-sectional study

(2012) Karen Barnett et al.   LANCET

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2

(2012) C. Breen et al.   MOLECULAR GENETICS AND METABOLISM

Intracisternal enzyme replacement therapy in lysosomal storage diseases: dispersal pathways, regional enzyme concentrations and the effect of posttreatment posture

(2012) R. D. Jolly et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

From Serendipity to Therapy

(2011) Elizabeth F. Neufeld   Annual Review of Biochemistry

Molecular mechanisms of endolysosomal Ca2+signalling in health and disease

(2011) Anthony J. Morgan et al.   BIOCHEMICAL JOURNAL

Lysosomal enhancement: A CLEAR answer to cellular degradative needs

(2011) Marco Sardiello et al.   CELL CYCLE

Enzyme Replacement Therapy for Pompe Disease

(2011) Corrado Angelini et al.   Current Neurology and Neuroscience Reports

Lipid transfer and signaling at organelle contact sites: the tip of the iceberg

(2011) Alexandre Toulmay et al.   CURRENT OPINION IN CELL BIOLOGY

Enzyme replacement therapy for lysosomal storage diseases

(2011) Robin H. Lachmann   CURRENT OPINION IN PEDIATRICS

Pharmacological chaperone therapy for Gaucher disease: a patent review

(2011) Juan M Benito et al.   EXPERT OPINION ON THERAPEUTIC PATENTS

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

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

Screening patients referred to a metabolic clinic for lysosomal storage disorders

(2011) M. Fuller et al.   JOURNAL OF MEDICAL GENETICS

The cellular pathology of lysosomal diseases

(2011) Timothy M Cox et al.   JOURNAL OF PATHOLOGY

Mucolipidosis type IV: An update

(2011) Kazuyo Wakabayashi et al.   MOLECULAR GENETICS AND METABOLISM

Ebola virus entry requires the cholesterol transporter Niemann–Pick C1

(2011) Jan E. Carette et al.   NATURE

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Non-iminosugar glucocerebrosidase small molecule chaperones

(2011) Juan Jose Marugan et al.   MedChemComm

Psychiatric and behavioral manifestations of lysosomal storage disorders

(2010) Orna Staretz-Chacham et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

HSP70 and lysosomal storage disorders: novel therapeutic opportunities

(2010) Nikolaj H.T. Petersen et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Autosomal recessive mutations in the development of Parkinson’s disease

(2010) Grisel Lopez et al.   Biomarkers in Medicine

A monozygotic twin pair with highly discordant Gaucher phenotypes

(2010) M. Biegstraaten et al.   BLOOD CELLS MOLECULES AND DISEASES

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

(2010) A. Sharifi et al.   HUMAN MOLECULAR GENETICS

Hsp70 stabilizes lysosomes and reverts Niemann–Pick disease-associated lysosomal pathology

(2010) Thomas Kirkegaard et al.   NATURE

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Acid Sphingomyelinase Inhibitors Normalize Pulmonary Ceramide and Inflammation in Cystic Fibrosis

(2009) Katrin Anne Becker et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Microglial Physiology: Unique Stimuli, Specialized Responses

(2009) Richard M. Ransohoff et al.   Annual Review of Immunology

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith 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

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Current Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases

(2009) Elizabeth R. Lim-Melia et al.   PEDIATRIC ANNALS

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

(2009) Mylvaganam Jeyakumar et al.   STEM CELLS

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Lysosomal involvement in cell death and cancer

(2008) Thomas Kirkegaard et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Neuraminidase 1 Is a Negative Regulator of Lysosomal Exocytosis

(2008) Gouri Yogalingam et al.   DEVELOPMENTAL CELL

Immune response to enzyme replacement therapy in Fabry disease: Impact on clinical outcome?

(2008) C.E.M. Hollak et al.   MOLECULAR GENETICS AND METABOLISM

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

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

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY