Recent trends in mucopolysaccharidosis research

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII)

(2018) Stefania Bellesso et al.   HUMAN MOLECULAR GENETICS

Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy

(2018) Yonghong Chen et al.   MOLECULAR THERAPY

A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II

(2018) Hiroyuki Sonoda et al.   MOLECULAR THERAPY

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

Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report

(2018) Luisa Sisinni et al.   PEDIATRIC TRANSPLANTATION

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

(2017) Alberto B. Burlina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience

(2017) Barbara K. Burton et al.   JOURNAL OF PEDIATRICS

Epidemiology of mucopolysaccharidoses

(2017) Shaukat A. Khan et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

(2017) Florian Eichler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

(2017) Molly Stapleton et al.   Expert Opinion on Orphan Drugs

Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy

(2016) Katarzyna Rojek et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Cell cycle is disturbed in mucopolysaccharidosis type II fibroblasts, and can be improved by genistein

(2016) Marta Moskot et al.   GENE

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement

(2016) Konstanze Hörtnagel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study

(2016) Julia B. Hennermann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

(2016) Adriana M Montaño et al.   JOURNAL OF MEDICAL GENETICS

Gene therapy for metachromatic leukodystrophy

(2016) Jonathan B. Rosenberg et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Hematopoietic stem cell transplantation for Morquio A syndrome

(2016) Hiromasa Yabe et al.   MOLECULAR GENETICS AND METABOLISM

A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice

(2016) Yohta Shimada et al.   MOLECULAR GENETICS AND METABOLISM

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

(2016) Rossella Parini et al.   MOLECULAR GENETICS AND METABOLISM

Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II

(2016) Takayuki Yokoi et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic stem cell transplantation for inborn errors of metabolism: A report from the Research Committee on Transplantation for Inborn Errors of Metabolism of the Japanese Ministry of Health, Labour and Welfare and the Working Group of the Japan Soci

(2016) Shunichi Kato et al.   PEDIATRIC TRANSPLANTATION

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

(2016) Jinglan Zhang et al.   PLoS Genetics

Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery

(2016) Haiyan Fu et al.   Molecular Therapy-Methods & Clinical Development

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

(2015) R. Sharma et al.   BLOOD

Mucopolysaccharidosis IIIB confers enhanced neonatal intracranial transduction by AAV8 but not by 5, 9 or rh10

(2015) J A Gilkes et al.   GENE THERAPY

Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II

(2015) Taichi Wakabayashi et al.   HUMAN GENE THERAPY

Hypomyelination and developmental delay associated withVPS11mutation in Ashkenazi-Jewish patients

(2015) Shimon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Therapies for the bone in mucopolysaccharidoses

(2015) Shunji Tomatsu et al.   MOLECULAR GENETICS AND METABOLISM

The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice

(2015) Elizabeth M. Xing et al.   MOLECULAR GENETICS AND METABOLISM

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

The Genetic Legacy of the Expansion of Turkic-Speaking Nomads across Eurasia

(2015) Bayazit Yunusbayev et al.   PLoS Genetics

Insulin receptor antibody-iduronate 2-sulfatase fusion protein: Pharmacokinetics, anti-drug antibody, and safety pharmacology in Rhesus monkeys

(2014) Ruben J. Boado et al.   BIOTECHNOLOGY AND BIOENGINEERING

Lentiviral-Mediated Gene Therapy Results in Sustained Expression of β-Glucuronidase for up to 12 Months in the Gusmps/mps and up to 18 Months in the Gustm(L175F)Sly Mouse Models of Mucopolysaccharidosis Type VII

(2014) Ainslie L.K. Derrick-Roberts et al.   HUMAN GENE THERAPY

Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial

(2014) Marc Tardieu et al.   HUMAN GENE THERAPY

Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II

(2014) Kentaro Yokoi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Tau Pathology Induces Intraneuronal Cholesterol Accumulation

(2014) Frauke Glöckner et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Concise Review: Lessons Learned From Clinical Trials of Gene Therapy in Monogenic Immunodeficiency Diseases

(2014) David A. Williams et al.   Stem Cells Translational Medicine

A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4–7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy

(2013) Roberto Giugliani et al.   GENETICS IN MEDICINE

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

(2013) Virginia Haurigot et al.   JOURNAL OF CLINICAL INVESTIGATION

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

(2013) Katherine H. Kim et al.   MOLECULAR GENETICS AND METABOLISM

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

Correction of Pathological Accumulation of Glycosaminoglycans in Central Nervous System and Peripheral Tissues of MPSIIIA Mice Through Systemic AAV9 Gene Transfer

(2012) Albert Ruzo et al.   HUMAN GENE THERAPY

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

(2012) Akemi Tanaka et al.   MOLECULAR GENETICS AND METABOLISM

Sialic Acid Deposition Impairs the Utility of AAV9, but Not Peptide-modified AAVs for Brain Gene Therapy in a Mouse Model of Lysosomal Storage Disease

(2012) Yong Hong Chen et al.   MOLECULAR THERAPY

Chronic immune-mediated axonal polyneuropathy following umbilical cord blood transplant for childhood-onset cerebral adrenoleukodystrophy

(2012) Minoru Shibata et al.   PEDIATRIC TRANSPLANTATION

Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB

(2012) Fiona L. Wilkinson et al.   PLoS One

Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT)

(2011) Jolanta Marucha et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lentiviral vector common integration sites in preclinical models and a clinical trial reflect a benign integration bias and not oncogenic selection

(2011) A. Biffi et al.   BLOOD

Mucopolysaccharidosis Type I, Unique Structure of Accumulated Heparan Sulfate and IncreasedN-Sulfotransferase Activity in Mice Lacking α-l-iduronidase

(2011) Rebecca J. Holley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In vivo genome editing restores haemostasis in a mouse model of haemophilia

(2011) Hojun Li et al.   NATURE

Ex vivo gene transfer and correction for cell-based therapies

(2011) Luigi Naldini   NATURE REVIEWS GENETICS

Successful cord blood transplantation with reduced-intensity conditioning for childhood cerebral X-linked adrenoleukodystrophy at advanced and early stages

(2011) Hidetaka Niizuma et al.   PEDIATRIC TRANSPLANTATION

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

Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II

(2010) A Friso et al.   BRITISH JOURNAL OF PHARMACOLOGY

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

(2010) Joseph Muenzer et al.   GENETICS IN MEDICINE

DAMPening Inflammation by Modulating TLR Signalling

(2010) A. M. Piccinini et al.   MEDIATORS OF INFLAMMATION

Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI

(2010) Sean Turbeville et al.   MOLECULAR GENETICS AND METABOLISM

Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders

(2010) Jaap J. Boelens et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Initial report from the Hunter Outcome Survey

(2009) J Edmond Wraith et al.   GENETICS IN MEDICINE

Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years

(2009) Nathalie Guffon et al.   JOURNAL OF PEDIATRICS

Japan Elaprase® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

(2009) Torayuki Okuyama et al.   MOLECULAR GENETICS AND METABOLISM

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

(2009) K. Ohmi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

(2009) N. Cartier et al.   SCIENCE

Role of microglia in neuronal degeneration and regeneration

(2009) Lisa Walter et al.   Seminars in Immunopathology

Autophagy: A lysosomal degradation pathway with a central role in health and disease

(2008) Eeva-Liisa Eskelinen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Emerging trends in transplantation of inherited metabolic diseases

(2008) V K Prasad et al.   BONE MARROW TRANSPLANTATION

Innate and adaptive immune activation in the brain of MPS IIIB mouse model

(2008) Julianne DiRosario et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA

(2008) Chantelle McIntyre et al.   MOLECULAR GENETICS AND METABOLISM

Successful allogeneic unrelated bone marrow transplantation using reduced-intensity conditioning for the treatment of X-linked adrenoleukodystrophy in a one-yr-old boy

(2008) Kazumi Okamura et al.   PEDIATRIC TRANSPLANTATION

Mucopolysaccharidosis I: Management and Treatment Guidelines

(2008) J. Muenzer et al.   PEDIATRICS