Current treatment options and novel nanotechnology-driven enzyme replacement strategies for lysosomal storage disorders

Intracerebroventricular Treatment with 2-Hydroxypropyl-β-Cyclodextrin Decreased Cerebellar and Hepatic Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB) Expression in Niemann–Pick Disease Type C Model Mice

(2021) Madoka Fukaura et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Waning efficacy in a long-term AAV-mediated gene therapy study in the murine model of Krabbe disease.

(2021) Gregory J. Heller et al.   MOLECULAR THERAPY

Impact of Chemical Composition on the Nanostructure and Biological Activity of α-Galactosidase-Loaded Nanovesicles for Fabry Disease Treatment

(2021) Judit Tomsen-Melero et al.   ACS Applied Materials & Interfaces

Therapeutic Approaches in Lysosomal Storage Diseases

(2021) Carlos Fernández-Pereira et al.   Biomolecules

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management

(2020) Kazuki Sawamoto et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Lysosomal Acid Lipase Deficiency: Therapeutic Options

(2020) Gregory M Pastores et al.   Drug Design Development and Therapy

The Respiratory Phenotype of Pompe Disease Mouse Models

(2020) Anna F. Fusco et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

(2020) Roberto Giugliani et al.   Orphanet Journal of Rare Diseases

2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy

(2020) Ashutosh Singhal et al.   Scientific Reports

Systemic enzyme delivery by blood-brain barrier-penetrating SapC-DOPS nanovesicles for treatment of neuronopathic Gaucher disease

(2020) Ying Sun et al.   EBioMedicine

Altered Sphingolipids Metabolism Damaged Mitochondrial Functions: Lessons Learned From Gaucher and Fabry Diseases

(2020) Margarita Ivanova   Journal of Clinical Medicine

Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

(2020) Tae-Un Han et al.   Frontiers in Cell and Developmental Biology

Intertwined mechanisms define transport of anti-ICAM nanocarriers across the endothelium and brain delivery of a therapeutic enzyme

(2020) Rachel L. Manthe et al.   JOURNAL OF CONTROLLED RELEASE

Lysosomal storage diseases: current therapies and future alternatives

(2020) Andrés Felipe Leal et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate

(2020) Christof Trabszo et al.   BIOCHEMICAL JOURNAL

Engineering precision nanoparticles for drug delivery

(2020) Michael J. Mitchell et al.   NATURE REVIEWS DRUG DISCOVERY

Nanotechnology‐based approaches for treating lysosomal storage disorders, a focus on Fabry disease

(2020) Ibane Abasolo et al.   Wiley Interdisciplinary Reviews-Nanomedicine and Nanobiotechnology

Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles

(2019) Laura Rigon et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

(2019) André R. A. Marques et al.   Autophagy

Dysregulated autophagy as a new aspect of the molecular pathogenesis of Krabbe disease

(2019) Ambra Del Grosso et al.   NEUROBIOLOGY OF DISEASE

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles

(2019) Mai Anh Do et al.   Scientific Reports

Cross-Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery: Application to Polymeric Nanoparticles

(2018) Marianna Galliani et al.   BIOCONJUGATE CHEMISTRY

Pathological manifestations of Farber disease in a new mouse model

(2018) Nadine Beckmann et al.   BIOLOGICAL CHEMISTRY

The importance of microfluidics for the preparation of nanoparticles as advanced drug delivery systems

(2018) João Pedro Martins et al.   Expert Opinion on Drug Delivery

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

(2018) Line Borgwardt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Long-Term Improvement of Neurological Signs and Metabolic Dysfunction in a Mouse Model of Krabbe’s Disease after Global Gene Therapy

(2018) Michael S. Marshall et al.   MOLECULAR THERAPY

Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones

(2018) David M. Pereira et al.   Chemical Science

Chitosan nanoparticles triggered the induction of ROS-mediated cytoprotective autophagy in cancer cells

(2018) Hao Wang et al.   Artificial Cells Nanomedicine and Biotechnology

Pompe Disease: From Basic Science to Therapy

(2018) Lara Kohler et al.   Neurotherapeutics

Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep

(2018) Effie Lee et al.   JOURNAL OF VETERINARY DIAGNOSTIC INVESTIGATION

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

(2018) Michael J. Przybilla et al.   MOLECULAR GENETICS AND METABOLISM

New Approaches to Tay-Sachs Disease Therapy

(2018) Valeriya V. Solovyeva et al.   Frontiers in Physiology

Dysregulation of autophagy as a common mechanism in lysosomal storage diseases

(2017) Elena Seranova et al.   Essays in Biochemistry

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice

(2017) Stijn Stroobants et al.   EXPERIMENTAL NEUROLOGY

Mucopolysaccharidosis VI pathophysiology diagnosis and treatment

(2017) Paul Harmatz   Frontiers in Bioscience-Landmark

Disease correction by AAV-mediated gene therapy in a new mouse model of mucopolysaccharidosis type IIID

(2017) Carles Roca et al.   HUMAN MOLECULAR GENETICS

Overview of immune abnormalities in lysosomal storage disorders

(2017) Donato Rigante et al.   IMMUNOLOGY LETTERS

Potential of surfactant-coated nanoparticles to improve brain delivery of arylsulfatase A

(2017) Tilman Schuster et al.   JOURNAL OF CONTROLLED RELEASE

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

(2017) Markus Ries   JOURNAL OF INHERITED METABOLIC DISEASE

Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice

(2017) Carmen Garnacho et al.   MOLECULAR THERAPY

Emptying the stores: lysosomal diseases and therapeutic strategies

(2017) Frances M. Platt   NATURE REVIEWS DRUG DISCOVERY

A saposin deficiency model in Drosophila : Lysosomal storage, progressive neurodegeneration and sensory physiological decline

(2017) Samantha J. Hindle et al.   NEUROBIOLOGY OF DISEASE

Developmental outcomes of cord blood transplantation for Krabbe disease

(2017) Matthew D. Wright et al.   NEUROLOGY

α-Galactosidase delivery using 30Kc19-human serum albumin nanoparticles for effective treatment of Fabry disease

(2016) Hong Jai Lee et al.   APPLIED MICROBIOLOGY AND BIOTECHNOLOGY

Lipid-based nanovesicles for nanomedicine

(2016) N. Grimaldi et al.   CHEMICAL SOCIETY REVIEWS

Quaternized Chitosan/Alginate-Fe3O4 Magnetic Nanoparticles Enhance the Chemosensitization of Multidrug-Resistant Gastric Carcinoma by Regulating Cell Autophagy Activity in Mice

(2016) Xiujuan Li et al.   Journal of Biomedical Nanotechnology

Neuroimmune mechanisms in Krabbe's disease

(2016) Gregory B. Potter et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Perspective on innovative therapies for globoid cell leukodystrophy

(2016) Alessandra Ricca et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Treatment for Krabbe's disease: Finding the combination

(2016) Christina R. Mikulka et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Lithium improves cell viability in psychosine-treated MO3.13 human oligodendrocyte cell line via autophagy activation

(2016) Ambra Del Grosso et al.   JOURNAL OF NEUROSCIENCE RESEARCH

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II

(2016) Ah-Ra Ko et al.   MOLECULAR GENETICS AND METABOLISM

A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA

(2016) Simon A. Jones et al.   MOLECULAR GENETICS AND METABOLISM

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients

(2016) Bouwien E. Smid et al.   Orphanet Journal of Rare Diseases

α-Galactosidase-A Loaded-Nanoliposomes with Enhanced Enzymatic Activity and Intracellular Penetration

(2016) Ingrid Cabrera et al.   Advanced Healthcare Materials

Lysosomal Re-acidification Prevents Lysosphingolipid-Induced Lysosomal Impairment and Cellular Toxicity

(2016) Christopher J. Folts et al.   PLOS BIOLOGY

Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders

(2016) Marika Salvalaio et al.   PLoS One

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

(2015) Carla Martins et al.   BRAIN

Aptamers in Targeted Nanotherapy

(2015) Anila Mathew et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy

(2015) Frank Matthes et al.   EXPERIMENTAL NEUROLOGY

History, genetic, and recent advances on Krabbe disease

(2015) Adriana Carol Eleonora Graziano et al.   GENE

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

(2015) Joseph Muenzer et al.   GENETICS IN MEDICINE

Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy

(2015) A. Ricca et al.   HUMAN MOLECULAR GENETICS

Therapeutic targeting of autophagy in neurodegenerative and infectious diseases

(2015) David C. Rubinsztein et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Use of Polylactide-Co-Glycolide-Nanoparticles for Lysosomal Delivery of a Therapeutic Enzyme in Glycogenosis Type II Fibroblasts

(2015) Tancini Brunella et al.   JOURNAL OF NANOSCIENCE AND NANOTECHNOLOGY

Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy

(2015) J. A. Hawkins-Salsbury et al.   JOURNAL OF NEUROSCIENCE

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

(2015) M. Praggastis et al.   JOURNAL OF NEUROSCIENCE

Altered Clathrin-Independent Endocytosis in Type A Niemann-Pick Disease Cells and Rescue by ICAM-1-Targeted Enzyme Delivery

(2015) Jeff Rappaport et al.   MOLECULAR PHARMACEUTICS

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

Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report

(2015) Alexander A. Boucher et al.   Orphanet Journal of Rare Diseases

Gaucher Disease: Clinical, Biological and Therapeutic Aspects

(2015) Azza Dandana et al.   PATHOBIOLOGY

A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I

(2015) Daniel C Mendez et al.   Molecular Therapy-Methods & Clinical Development

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

Blood–brain barrier drug delivery of IgG fusion proteins with a transferrin receptor monoclonal antibody

(2014) William M Pardridge   Expert Opinion on Drug Delivery

The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

(2014) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

Current approaches to enhance CNS delivery of drugs across the brain barriers

(2014) Cui-Tao Lu et al.   International Journal of Nanomedicine

A Novel Mouse Model of a Patient Mucolipidosis II Mutation Recapitulates Disease Pathology

(2014) Leigh Paton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Insight on the fate of CNS-targeted nanoparticles. Part II: Intercellular neuronal cell-to-cell transport

(2014) Giovanni Tosi et al.   JOURNAL OF CONTROLLED RELEASE

Large animal models and new therapies for glycogen storage disease

(2014) Elizabeth D. Brooks et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry

(2014) Juyuan Guo et al.   MOLECULAR GENETICS AND METABOLISM

Development of cerebellar pathology in the canine model of mucopolysaccharidosis type IIIA (MPS IIIA)

(2014) Sofia Hassiotis et al.   MOLECULAR GENETICS AND METABOLISM

Insulin Receptor Antibody–Sulfamidase Fusion Protein Penetrates the Primate Blood–Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type A Cells

(2014) Ruben J. Boado et al.   MOLECULAR PHARMACEUTICS

Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I

(2014) Fabiana Quoos Mayer et al.   PHARMACEUTICAL RESEARCH

Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB

(2014) S.-h. Kan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systemic ceramide accumulation leads to severe and varied pathological consequences

(2013) Abdulfatah M. Alayoubi et al.   EMBO Molecular Medicine

Enhancing Biodistribution of Therapeutic Enzymes In Vivo by Modulating Surface Coating and Concentration of ICAM-1-Targeted Nanocarriers

(2013) Janet Hsu et al.   Journal of Biomedical Nanotechnology

Quatsomes: Vesicles Formed by Self-Assembly of Sterols and Quaternary Ammonium Surfactants

(2013) Lidia Ferrer-Tasies et al.   LANGMUIR

Brain targeting with polymeric nanoparticles: which administration route should we take?

(2013) Giovanni Tosi et al.   Nanomedicine

Clinical Neurogenetics

(2013) Gregory M. Pastores et al.   NEUROLOGIC CLINICS

Lysosomal Membrane Proteins and Their Central Role in Physiology

(2013) Michael Schwake et al.   TRAFFIC

Advanced drug delivery systems: Nanotechnology of health design A review

(2013) Javad Safari et al.   Journal of Saudi Chemical Society

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pharmacokinetics and brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor

(2012) Ruben J. Boado et al.   BIOTECHNOLOGY AND BIOENGINEERING

New strategies for the treatment of lysosomal storage diseases (Review)

(2012) GIANCARLO PARENTI et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

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

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

Lysosome-targeted octadecyl-rhodamine B-liposomes enhance lysosomal accumulation of glucocerebrosidase in Gaucher’s cellsin vitro

(2012) Ritesh Thekkedath et al.   Nanomedicine

The selective growth inhibition of oral cancer by iron core-gold shell nanoparticles through mitochondria-mediated autophagy

(2011) Ya-Na Wu et al.   BIOMATERIALS

Enzyme replacement therapy for lysosomal storage diseases

(2011) Robin H. Lachmann   CURRENT OPINION IN PEDIATRICS

Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain

(2011) Timothy J. Sargeant et al.   HUMAN MOLECULAR GENETICS

A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations

(2011) Robert A. Maue et al.   HUMAN MOLECULAR GENETICS

Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis

(2011) Kazuhiko Matsuoka et al.   MOLECULAR THERAPY

Enhanced delivery of α-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders

(2011) Janet Hsu et al.   Nanomedicine-Nanotechnology Biology and Medicine

Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging

(2010) Zeshan Ahmed et al.   AMERICAN JOURNAL OF PATHOLOGY

Enhanced endothelial delivery and biochemical effects of α-galactosidase by ICAM-1-targeted nanocarriers for Fabry disease

(2010) Janet Hsu et al.   JOURNAL OF CONTROLLED RELEASE

Pathophysiology of neuropathic lysosomal storage disorders

(2010) Cinzia Maria Bellettato 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

Tay-Sachs disease in Jacob sheep

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

Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy

(2010) Sung-Chul Jung et al.   MOLECULES AND CELLS

New biotechnological and nanomedicine strategies for treatment of lysosomal storage disorders

(2010) Silvia Muro   Wiley Interdisciplinary Reviews-Nanomedicine and Nanobiotechnology

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration

(2009) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Specific saposin C deficiency: CNS impairment and acid  -glucosidase effects in the mouse

(2009) Y. Sun et al.   HUMAN MOLECULAR GENETICS

The Lysosomal Sialic Acid Transporter Sialin Is Required for Normal CNS Myelination

(2009) L. M. Prolo et al.   JOURNAL OF NEUROSCIENCE

A novel functional role of iduronate-2-sulfatase in zebrafish early development

(2009) Enrico Moro et al.   MATRIX BIOLOGY

Balancing Innovation, Access, and Profits — Market Exclusivity for Biologics

(2009) Alfred B. Engelberg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comparative Pathology of Murine Mucolipidosis Types II and IIIC

(2009) P. Vogel et al.   VETERINARY PATHOLOGY

Enzymatic Activity of Lysosomal Carboxypeptidase (Cathepsin) A Is Required for Proper Elastic Fiber Formation and Inactivation of Endothelin-1

(2008) Volkan Seyrantepe et al.   CIRCULATION

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

A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis

(2008) Dianna C. Martin et al.   HUMAN MOLECULAR GENETICS

Delivery of Acid Sphingomyelinase in Normal and Niemann-Pick Disease Mice Using Intercellular Adhesion Molecule-1-Targeted Polymer Nanocarriers

(2008) C. Garnacho et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

(2008) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM

Alpha-mannosidosis

(2008) Dag Malm et al.   Orphanet Journal of Rare Diseases