Lysosomal storage diseases: current therapies and future alternatives

A novel gene editing system to treat both Tay–Sachs and Sandhoff diseases

(2020) Li Ou et al.   GENE THERAPY

Genome Editing for Mucopolysaccharidoses

(2020) Edina Poletto et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

CRISPR/Cas9 Editing for Gaucher Disease Modelling

(2020) Eleonora Pavan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I

(2020) Li Ou et al.   MOLECULAR THERAPY

Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases

(2019) André R. A. Marques et al.   JOURNAL OF CELL SCIENCE

Principles of gene editing techniques and applications in animal husbandry

(2019) Shengwang Jiang et al.   3 Biotech

Diversifying the structure of zinc finger nucleases for high-precision genome editing

(2019) David E. Paschon et al.   Nature Communications

Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophy

(2019) Christopher E. Nelson et al.   NATURE MEDICINE

EMPOWERS: A phase 1/2 clinical trial of SB-318 ZFN-mediated in vivo human genome editing for treatment of MPS I (Hurler syndrome)

(2019) Paul Harmatz et al.   MOLECULAR GENETICS AND METABOLISM

CHAMPIONS: A phase 1/2 clinical trial with dose escalation of SB-913 ZFN-mediated in vivo human genome editing for treatment of MPS II (Hunter syndrome)

(2019) Joseph Muenzer et al.   MOLECULAR GENETICS AND METABOLISM

CRISPR/Cas9 technology as a potent molecular tool for gene therapy

(2019) Ansar Karimian et al.   JOURNAL OF CELLULAR PHYSIOLOGY

CCR5 Is a Therapeutic Target for Recovery after Stroke and Traumatic Brain Injury

(2019) Mary T. Joy et al.   CELL

Ethics of Human Genome Editing

(2019) Barry S. Coller   Annual Review of Medicine

Generation of GLA-Knockout Human Embryonic Stem Cell Lines to Model Autophagic Dysfunction and Exosome Secretion in Fabry Disease-Associated Hypertrophic Cardiomyopathy

(2019) Song et al.   Cells

Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments

(2019) Kazuki Sawamoto et al.   DRUGS

Design and applications of gene therapy vectors for mucopolysaccharidosis in Colombia

(2019) Carlos J. Alméciga-Diaz et al.   GENE THERAPY

Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA

(2019) Carlos J. Alméciga-Diaz et al.   JOURNAL OF MEDICINAL CHEMISTRY

CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)

(2019) S. L. Eaton et al.   Scientific Reports

Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model

(2019) Kazuki Sawamoto et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish

(2019) Lindsey T. Lelieveld et al.   JOURNAL OF LIPID RESEARCH

Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation

(2019) Steven Erwood et al.   GENOME RESEARCH

Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: Implications for in vivo end ex vivo gene therapy of GM2 gangliosidosis

(2019) Francesca Ornaghi et al.   NEUROBIOLOGY OF DISEASE

Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I

(2019) Natalia Gomez-Ospina et al.   Nature Communications

Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice

(2019) Roselena Silvestri Schuh et al.   GENE THERAPY

Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses

(2019) Juan Camilo Losada Díaz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis

(2019) Gemma Gomez-Giro et al.   Acta Neuropathologica Communications

Model construction of Niemann-Pick type C disease in zebrafish

(2018) Yusheng Lin et al.   BIOLOGICAL CHEMISTRY

Genetics and Therapies for GM2 Gangliosidosis

(2018) Maria Begona Cachon-Gonzalez et al.   CURRENT GENE THERAPY

2-Hydroxypropyl-β-cyclodextrins and the Blood-Brain Barrier: Considerations for Niemann-Pick Disease Type C1

(2018) Pericles Calias   CURRENT PHARMACEUTICAL DESIGN

Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers

(2018) Roselena Silvestri Schuh et al.   EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

Comparison of the editing patterns and editing efficiencies of TALEN and CRISPR-Cas9 when targeting the human CCR5 gene

(2018) Arildo Nerys-Junior et al.   GENETICS AND MOLECULAR BIOLOGY

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

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

Acid ceramidase inhibition ameliorates α-synuclein accumulation upon loss of GBA1 function

(2018) Myung Jong Kim et al.   HUMAN MOLECULAR GENETICS

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation

(2018) Maria L. Allende et al.   JOURNAL OF LIPID RESEARCH

Gene therapy for Mucopolysaccharidoses

(2018) Kazuki Sawamoto et al.   MOLECULAR GENETICS AND METABOLISM

Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing

(2018) Kanut Laoharawee et al.   MOLECULAR THERAPY

Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases

(2018) Ya-Xiong Tao et al.   PHYSIOLOGICAL REVIEWS

Gene therapy comes of age

(2018) Cynthia E. Dunbar et al.   SCIENCE

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

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

The Current State and Future of CRISPR-Cas9 gRNA Design Tools

(2018) Laurence O. W. Wilson et al.   Frontiers in Pharmacology

Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies

(2018) Erik van der Wal et al.   Stem Cell Reports

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform forin vivoscreening of candidate therapeutic compounds

(2018) Wei-Chia Tseng et al.   Disease Models & Mechanisms

In Vivo Genome Editing as a Therapeutic Approach

(2018) Beatrice Ho et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system

(2018) Roselena Silvestri Schuh et al.   JOURNAL OF CONTROLLED RELEASE

Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy

(2018) Roselena Silvestri Schuh et al.   PHARMACEUTICAL RESEARCH

Novel BUF2-magnetite nanobioconjugates with cell-penetrating abilities

(2018) Monica Cuellar et al.   International Journal of Nanomedicine

Gene therapy for lysosomal storage diseases and peroxisomal diseases

(2018) Toya Ohashi   JOURNAL OF HUMAN GENETICS

α-galactosidase A deficiency promotes von Willebrand factor secretion in models of Fabry disease

(2018) Justin J. Kang et al.   KIDNEY INTERNATIONAL

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

Dissociation of globotriaosylceramide and impaired endothelial function in α-galactosidase-A deficient EA.hy926 cells

(2018) Nayiri Kaissarian et al.   MOLECULAR GENETICS AND METABOLISM

ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome

(2018) Li Ou et al.   MOLECULAR THERAPY

Sangamo's landmark genome editing trial gets mixed reception

(2018) Cormac Sheridan   NATURE BIOTECHNOLOGY

(5a R )-5a- C- Pentyl-4- epi -isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B

(2017) Sophie Front et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV

(2017) Huiqing Li et al.   HUMAN MOLECULAR GENETICS

Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I

(2017) Rachele Penati et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Rad51-mediated double-strand break repair and mismatch correction of divergent substrates

(2017) Ranjith Anand et al.   NATURE

Non-homologous DNA end joining and alternative pathways to double-strand break repair

(2017) Howard H. Y. Chang et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Open issues in Mucopolysaccharidosis type I-Hurler

(2017) Rossella Parini et al.   Orphanet Journal of Rare Diseases

FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice

(2017) Yasuhiro Ogawa et al.   Scientific Reports

Ethical and regulatory aspects of genome editing

(2016) Donald B. Kohn et al.   BLOOD

Nanotechnology applied to treatment of mucopolysaccharidoses

(2016) Roselena S. Schuh et al.   Expert Opinion on Drug Delivery

Preclinical Testing of the Safety and Tolerability of Lentiviral Vector–Mediated Above-Normal Alpha-L-Iduronidase Expression in Murine and Human Hematopoietic Cells Using Toxicology and Biodistribution Good Laboratory Practice Studies

(2016) Ilaria Visigalli et al.   HUMAN GENE THERAPY

Introducing precise genetic modifications into human 3PN embryos by CRISPR/Cas-mediated genome editing

(2016) Xiangjin Kang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

High-fidelity CRISPR–Cas9 nucleases with no detectable genome-wide off-target effects

(2016) Benjamin P. Kleinstiver et al.   NATURE

A multifunctional AAV–CRISPR–Cas9 and its host response

(2016) Wei Leong Chew et al.   NATURE METHODS

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

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

Repair Pathway Choices and Consequences at the Double-Strand Break

(2016) Raphael Ceccaldi et al.   TRENDS IN CELL BIOLOGY

Lysosomal Storage Diseases: From Pathophysiology to Therapy

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

Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy

(2015) Bruna Donida et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

In vivo genome editing of the albumin locus as a platform for protein replacement therapy

(2015) R. Sharma et al.   BLOOD

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

(2015) Carla Martins et al.   BRAIN

Zinc finger nuclease technology: Advances and obstacles in modelling and treating genetic disorders

(2015) Hamid Reza Jabalameli et al.   GENE

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

(2015) Pramod K. Mistry et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial

(2015) Timothy M Cox et al.   LANCET

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

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

Rationally engineered Cas9 nucleases with improved specificity

(2015) I. M. Slaymaker et al.   SCIENCE

CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes

(2015) Puping Liang et al.   Protein & Cell

TALEN-mediated genome editing: prospects and perspectives

(2014) David A. Wright et al.   BIOCHEMICAL JOURNAL

TALEN-Mediated Generation and Genetic Correction of Disease-Specific Human Induced Pluripotent Stem Cells

(2014) Sivaprakash Ramalingam et al.   CURRENT GENE THERAPY

Pharmacological chaperone therapy for lysosomal storage diseases

(2014) Giancarlo Parenti et al.   Future Medicinal Chemistry

Expanding the genetic editing tool kit: ZFNs, TALENs, and CRISPR-Cas9

(2014) Rajat M. Gupta et al.   JOURNAL OF CLINICAL INVESTIGATION

Generation of knockout mice using engineered nucleases

(2014) Young Hoon Sung et al.   METHODS

Soluble Heparan Sulfate Fragments Generated by Heparanase Trigger the Release of Pro-Inflammatory Cytokines through TLR-4

(2014) Katharine J. Goodall et al.   PLoS One

Gene Therapy for Fabry Disease: A Review of the Literature

(2013) Aritz Perez Ruiz de Garibay et al.   BIODRUGS

SunnyTALEN: A second-generation TALEN system for human genome editing

(2013) Ning Sun et al.   BIOTECHNOLOGY AND BIOENGINEERING

Protein Misfolding in Disease and Small Molecule Therapies

(2013) Claudio M. Gomes   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases

(2013) Robert E. Boyd et al.   JOURNAL OF MEDICINAL CHEMISTRY

DNA targeting specificity of RNA-guided Cas9 nucleases

(2013) Patrick D Hsu et al.   NATURE BIOTECHNOLOGY

A library of TAL effector nucleases spanning the human genome

(2013) Yongsub Kim et al.   NATURE BIOTECHNOLOGY

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

(2013) Yanfang Fu et al.   NATURE BIOTECHNOLOGY

Pentosan Polysulfate: A Novel Therapy for the Mucopolysaccharidoses

(2013) Edward H. Schuchman et al.   PLoS One

Efficient genome engineering in human pluripotent stem cells using Cas9 from Neisseria meningitidis

(2013) Z. Hou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A variant CRISPR-Cas9 system adds versatility to genome engineering

(2013) R. M. Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

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

TALENs: a widely applicable technology for targeted genome editing

(2012) J. Keith Joung et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Differential integrity of TALE nuclease genes following adenoviral and lentiviral vector gene transfer into human cells

(2012) Maarten Holkers et al.   NUCLEIC ACIDS RESEARCH

Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation

(2012) A. Capotondo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Efficient targeted gene disruption in Xenopus embryos using engineered transcription activator-like effector nucleases (TALENs)

(2012) Y. Lei et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

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

Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: The positive effect of long-term aspirin treatment

(2011) Audrey Arfi et al.   MOLECULAR GENETICS AND METABOLISM

Targeted gene disruption in somatic zebrafish cells using engineered TALENs

(2011) Jeffry D Sander et al.   NATURE BIOTECHNOLOGY

Revealing off-target cleavage specificities of zinc-finger nucleases by in vitro selection

(2011) Vikram Pattanayak et al.   NATURE METHODS

Modularly assembled designer TAL effector nucleases for targeted gene knockout and gene replacement in eukaryotes

(2011) Ting Li et al.   NUCLEIC ACIDS RESEARCH

Anti-TNF-Alpha Therapy Enhances the Effects of Enzyme Replacement Therapy in Rats with Mucopolysaccharidosis Type VI

(2011) Efrat Eliyahu et al.   PLoS One

Molecular Mechanism of Cyclodextrin Mediated Cholesterol Extraction

(2011) Cesar A. López et al.   PLoS Computational Biology

The Mechanism of Double-Strand DNA Break Repair by the Nonhomologous DNA End-Joining Pathway

(2010) Michael R. Lieber   Annual Review of Biochemistry

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

(2010) E. Lukina et al.   BLOOD

Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model

(2010) I. Visigalli et al.   BLOOD

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy

(2010) John Marshall et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A TALE nuclease architecture for efficient genome editing

(2010) Jeffrey C Miller et al.   NATURE BIOTECHNOLOGY

Selection-free zinc-finger-nuclease engineering by context-dependent assembly (CoDA)

(2010) Jeffry D Sander et al.   NATURE METHODS

Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease

(2010) John Marshall et al.   PLoS One

Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions

(2009) Vinod K. Prasad et al.   BRITISH JOURNAL OF HAEMATOLOGY

Substrate reduction therapy in juvenile GM2 gangliosidosis

(2009) Gustavo H.B. Maegawa 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

Involvement of the Toll-like receptor 4 pathway and use of TNF-  antagonists for treatment of the mucopolysaccharidoses

(2009) C. M. Simonaro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Principles and analysis of hematopoietic stem cell transplantation outcomes: the physician’s perspective

(2008) Mary Eapen et al.   LIFETIME DATA ANALYSIS