Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease

Early disease course is unaltered in MPS IIIA mice lacking α‐synuclein

(2019) Kyaw Soe et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Evaluation of biomarkers for Sanfilippo syndrome

(2019) Jennifer T. Saville et al.   MOLECULAR GENETICS AND METABOLISM

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

(2019) Nicole M. Muschol et al.   Orphanet Journal of Rare Diseases

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

(2019) Carla Martins et al.   HUMAN MUTATION

Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA

(2019) Himani Tanwar et al.   METABOLIC BRAIN DISEASE

Heparan sulfate proteoglycans: The sweet side of development turns sour in mucopolysaccharidoses

(2019) Valeria De Pasquale et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

(2019) Stephanie C. M. Nijmeijer et al.   Orphanet Journal of Rare Diseases

Auditory Characteristics in Patients With Mucopolysaccharidosis

(2019) Jungmin Ahn et al.   OTOLOGY & NEUROTOLOGY

Trehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency

(2018) Parisa Lotfi et al.   Autophagy

A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency

(2018) Julie Tordo et al.   BRAIN

Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA

(2018) Dani L. Webber et al.   EXPERIMENTAL NEUROLOGY

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B

(2018) Chester B. Whitley et al.   JOURNAL OF PEDIATRICS

Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series

(2018) Elsa Shapiro et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of echocardiographic abnormalities in mucopolysaccharidosis III

(2018) Carolyn M. Wilhelm et al.   MOLECULAR GENETICS AND METABOLISM

Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry

(2018) Fan Yi et al.   MOLECULAR GENETICS AND METABOLISM

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

(2018) Gé-Ann Kuiper et al.   Orphanet Journal of Rare Diseases

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

(2018) Beatrice Paola Festa et al.   Nature Communications

Local and distant relationships between amyloid, tau and neurodegeneration in Alzheimer's Disease

(2018) Leonardo Iaccarino et al.   NeuroImage-Clinical

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period

(2018) Hsiang-Yu Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses

(2018) Jennifer T. Saville et al.   GENETICS IN MEDICINE

Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis

(2018) Abdellah Tebani et al.   Journal of Translational Medicine

A model of mucopolysaccharidosis type IIIB in pigs

(2018) Qiang Yang et al.   Biology Open

Poly(ADP-ribose) drives pathologic α-synuclein neurodegeneration in Parkinson’s disease

(2018) Tae-In Kam et al.   SCIENCE

Axonal dystrophy in the brain of mice with Sanfilippo syndrome

(2017) Helen Beard et al.   EXPERIMENTAL NEUROLOGY

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

(2017) Carles Roca et al.   HUMAN MOLECULAR GENETICS

A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome

(2017) Adeline A. Lau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB

(2017) Qingwen Zeng et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial

(2017) Marc Tardieu et al.   LANCET NEUROLOGY

Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB

(2017) Haiyan Fu et al.   METABOLIC BRAIN DISEASE

Glycosaminoglycans detection methods: Applications of mass spectrometry

(2017) Francyne Kubaski et al.   MOLECULAR GENETICS AND METABOLISM

α-Synuclein fibril-induced inclusion spread in rats and mice correlates with dopaminergic Neurodegeneration

(2017) Hisham Abdelmotilib et al.   NEUROBIOLOGY OF DISEASE

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

(2017) Arunabha Ghosh et al.   Orphanet Journal of Rare Diseases

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

(2016) Christiane Auray-Blais et al.   ANALYTICA CHIMICA ACTA

Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease

(2016) Marcin Woś et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC

(2016) Sara Marcó et al.   Disease Models & Mechanisms

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases

(2016) Irene Sambri et al.   EMBO Molecular Medicine

Accumulated α-synuclein affects the progression of GM2 gangliosidoses

(2016) Kyoko Suzuki et al.   EXPERIMENTAL NEUROLOGY

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia

(2016) Harvy Mauricio Velasco et al.   JOURNAL OF CHILD NEUROLOGY

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

(2016) Francyne Kubaski et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inhibition of the JAK/STAT Pathway Protects Against α-Synuclein-Induced Neuroinflammation and Dopaminergic Neurodegeneration

(2016) Hongwei Qin et al.   JOURNAL OF NEUROSCIENCE

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA

(2016) Elsa G. Shapiro et al.   JOURNAL OF PEDIATRICS

Glycosaminoglycan levels and structure in a mucopolysaccharidosis IIIA mice and the effect of a highly secreted sulfamidase engineered to cross the blood-brain barrier

(2016) F Maccari et al.   METABOLIC BRAIN DISEASE

N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice

(2016) Xenia Kaidonis et al.   MOLECULAR GENETICS AND METABOLISM

A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design

(2016) K.V. Truxal et al.   MOLECULAR GENETICS AND METABOLISM

A novel LC–MS/MS assay for heparan sulfate screening in the cerebrospinal fluid of mucopolysaccharidosis IIIA patients

(2016) Hicham Naimy et al.   Bioanalysis

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

(2015) Carla Martins et al.   BRAIN

Interactions of signaling proteins, growth factors and other proteins with heparan sulfate: mechanisms and mysteries

(2015) Paul C. Billings et al.   CONNECTIVE TISSUE RESEARCH

Heparan Sulfate Saccharides Modify Focal Adhesions: Implication in Mucopolysaccharidosis Neuropathophysiology

(2015) Julie Bruyère et al.   JOURNAL OF MOLECULAR BIOLOGY

Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale

(2015) Elsa G. Shapiro et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

(2015) Mario de la Mata et al.   Scientific Reports

Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks

(2015) Isaac Canals et al.   Stem Cell Reports

Repeated Administrations of Human Umbilical Cord Blood Cells Improve Disease Outcomes in a Mouse Model of Sanfilippo Syndrome Type III B

(2014) Alison E. Willing et al.   CELL TRANSPLANTATION

NADPH oxidases: an overview from structure to innate immunity-associated pathologies

(2014) Arvind Panday et al.   Cellular & Molecular Immunology

Newborn Screening for Lysosomal Storage Diseases

(2014) M. H. Gelb et al.   CLINICAL CHEMISTRY

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

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

(2014) Björn Kowalewski et al.   HUMAN MOLECULAR GENETICS

Oxidative stress is independent of inflammation in the neurodegenerative sanfilippo syndrome type B

(2014) Stéphanie Trudel et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Acquired Autistic Behaviors in Children with Mucopolysaccharidosis Type IIIA

(2014) Robin K. Rumsey et al.   JOURNAL OF PEDIATRICS

The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape

(2014) Olaf A. Bodamer et al.   MOLECULAR GENETICS AND METABOLISM

Assessment of Sleep in Children with Mucopolysaccharidosis Type III

(2014) Louise Victoria Mahon et al.   PLoS One

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

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

(2013) Frits A Wijburg et al.   ACTA PAEDIATRICA

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

(2013) Laura D. Osellame et al.   Cell Metabolism

A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA

(2013) Nicolina Cristina Sorrentino et al.   EMBO Molecular Medicine

Hyperactivity, Unexplained Speech Delay, and Coarse Facies—Is It Sanfilippo Syndrome?

(2013) Arushi Gahlot Saini et al.   JOURNAL OF CHILD NEUROLOGY

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver–Bucy syndrome

(2013) Michael Potegal et al.   JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY

Natural history of Sanfilippo syndrome type A

(2013) Dakota Buhrman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural history of Sanfilippo syndrome in Spain

(2013) Verónica Delgadillo et al.   Orphanet Journal of Rare Diseases

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

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease

(2012) J. de Ruijter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility

(2012) Lorne A. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

Hematopoietic Stem Cell and Gene Therapy Corrects Primary Neuropathology and Behavior in Mucopolysaccharidosis IIIA Mice

(2012) Alexander Langford-Smith et al.   MOLECULAR THERAPY

Abnormal Gangliosides are Localized in Lipid Rafts in Sanfilippo (MPS3a) Mouse Brain

(2012) G. Dawson et al.   NEUROCHEMICAL RESEARCH

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

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

Peripheral Nervous System Neuropathology and Progressive Sensory Impairments in a Mouse Model of Mucopolysaccharidosis IIIB

(2012) Haiyan Fu et al.   PLoS One

Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice

(2012) B. Kowalewski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genistein in Sanfilippo disease: A randomized controlled crossover trial

(2011) Jessica de Ruijter et al.   ANNALS OF NEUROLOGY

Analysis of Glycosaminoglycans in Cerebrospinal Fluid from Patients with Mucopolysaccharidoses by Isotope-Dilution Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry

(2011) H. Zhang et al.   CLINICAL CHEMISTRY

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

(2011) Thomas Lemonnier et al.   HUMAN MOLECULAR GENETICS

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

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome

(2011) Sophie E. Winder-Rhodes et al.   MOVEMENT DISORDERS

Hallazgos neurorradiológicos en una serie de pacientes con mucopolisacaridosis

(2011) M.L. Calleja Gero et al.   NEUROLOGIA

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

(2011) Marlies J Valstar et al.   Orphanet Journal of Rare Diseases

Female Mucopolysaccharidosis IIIA Mice Exhibit Hyperactivity and a Reduced Sense of Danger in the Open Field Test

(2011) Alex Langford-Smith et al.   PLoS One

Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B

(2011) Kazuhiro Ohmi et al.   PLoS One

Overview of the mucopolysaccharidoses

(2011) J. Muenzer   RHEUMATOLOGY

Mitochondria and the Autophagy-Inflammation-Cell Death Axis in Organismal Aging

(2011) D. R. Green et al.   SCIENCE

Clarifying lysosomal storage diseases

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

Heparan Sulfate Proteoglycans

(2011) S. Sarrazin et al.   Cold Spring Harbor Perspectives in Biology

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

(2010) Bénédicte Héron et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations

(2010) Marlies J. Valstar et al.   ANNALS OF NEUROLOGY

Carrier detection in Sanfilippo syndrome type B: report of six families

(2010) J. M. Vance et al.   CLINICAL GENETICS

Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice

(2010) Adeline A. Lau et al.   EXPERIMENTAL NEUROLOGY

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

(2010) Marlies J. Valstar et al.   HUMAN MUTATION

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

(2010) Marlies J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response

(2010) Smruti Killedar et al.   Journal of Neuroinflammation

Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease

(2010) Marcelina Malinowska et al.   PLoS One

Mucopolysaccharidosis IIIB: Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis

(2009) Guglielmo R.D. Villani et al.   BRAIN RESEARCH

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene

(2009) Matthew Feldhammer et al.   HUMAN MUTATION

GAP43 overexpression and enhanced neurite outgrowth in mucopolysaccharidosis type IIIB cortical neuron cultures

(2009) Michaël Hocquemiller et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB

(2009) Sandrine Vitry et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis

(2008) Ewa Piotrowska et al.   ACTA PAEDIATRICA

Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

(2008) Taiane Vieira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice

(2008) Adeline A. Lau et al.   BEHAVIOURAL BRAIN RESEARCH

Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice

(2008) K. M. Hemsley et al.   GENES BRAIN AND BEHAVIOR

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

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

Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice

(2008) Jérôme Ausseil et al.   PLoS One

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

(2007) G.J.G. Ruijter et al.   MOLECULAR GENETICS AND METABOLISM