Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms

Estimated birth prevalence of mucopolysaccharidoses in Brazil

(2020) Andressa Federhen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

(2018) Brian W. Bigger et al.   MOLECULAR GENETICS AND METABOLISM

Dysregulation of autophagy as a common mechanism in lysosomal storage diseases

(2017) Elena Seranova et al.   Essays in Biochemistry

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

(2017) Roberto Giugliani et al.   GENETICS AND MOLECULAR BIOLOGY

Treatment of brain disease in the mucopolysaccharidoses

(2017) Maurizio Scarpa et al.   MOLECULAR GENETICS AND METABOLISM

Clinical perspectives of TRAIL: insights into central nervous system disorders

(2016) Veronica Tisato et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

(2015) Carla Martins et al.   BRAIN

Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice

(2012) Guilherme Baldo et al.   BEHAVIOURAL BRAIN RESEARCH

Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII

(2012) Daniel J. Rowan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2012) Fiona L. Wilkinson 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

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

Tumour necrosis factor-related apoptosis-inducing ligand (TRAIL) in central nervous system inflammation

(2009) Olaf Hoffmann et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression

(2009) Jason A. Metcalf 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

Secondary lipid accumulation in lysosomal disease

(2008) Steven U. Walkley et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Sanfilippo syndrome: A mini-review

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

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

(2008) Jérôme Ausseil et al.   PLoS One