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

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

High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): A national, observational, cross-sectional study

(2013) Jessica de Ruijter et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease

(2012) Einat B. Vitner et al.   BRAIN

Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases

(2012) Raquel de Pablo-Latorre et al.   HUMAN MOLECULAR GENETICS

Accelerated clinical disease and pathology in mucopolysaccharidosis type IIIB and GalNAc transferase double knockout mice

(2012) Eman E.A. Mohammed et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Macrophage Migration Inhibitory Factor Induces Autophagy via Reactive Oxygen Species Generation

(2012) Yung-Chun Chuang et al.   PLoS One

GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease

(2011) Elise Roy et al.   HUMAN MOLECULAR GENETICS

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

Protein O-GlcNAcylation: A Critical Regulator of the Cellular Response to Stress

(2010) John Chatham et al.   Current Signal Transduction Therapy

Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA:α-GlucosaminideN-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC

(2010) Stéphanie Durand et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TNF-α induces mitochondrial dysfunction in 3T3-L1 adipocytes

(2010) Xiao-Hui Chen et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Tumor Necrosis Factor-α and Apoptosis Signal-Regulating Kinase 1 Control Reactive Oxygen Species Release, Mitochondrial Autophagy and C-Jun N-Terminal Kinase/P38 Phosphorylation During Necrotizing Enterocolitis

(2010) Naira Baregamian et al.   Oxidative Medicine and Cellular Longevity

Mice Doubly-Deficient in Lysosomal Hexosaminidase A and Neuraminidase 4 Show Epileptic Crises and Rapid Neuronal Loss

(2010) Volkan Seyrantepe et al.   PLoS Genetics

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

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

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

(2009) Matthew Feldhammer et al.   PLoS One

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

Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure–function studies associated with cerebellar Purkinje cell degeneration

(2008) Shannon L. Macauley et al.   EXPERIMENTAL NEUROLOGY

Large-scale gene trapping in C57BL/6N mouse embryonic stem cells

(2008) G. M. Hansen et al.   GENOME RESEARCH

Mice deficient in Neu4 sialidase exhibit abnormal ganglioside catabolism and lysosomal storage

(2008) Volkan Seyrantepe et al.   HUMAN MOLECULAR GENETICS

Sanfilippo syndrome: A mini-review

(2008) M. J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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