Associated Papers
Evaluation of neuroretina following i.v. or intra-CSF AAV9 gene replacement in mice with MPS IIIA, a childhood dementia.
Beard H et al.
Cns Neuroscience & Therapeutics, 2024
Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.
Pozzi FE et al.
Neurogenetics, 2024
Characterization of a spontaneous cell line from primary mouse fibroblasts as a model to study Sanfilippo syndrome.
Veraldi N et al.
The International Journal of Biochemistry & Cell Biology, 2022
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
Douek AM et al.
International Journal of Molecular Sciences, 2021
Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?
Douglass ML et al.
Journal of Inherited Metabolic Disease, 2021
Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.
Heon-Roberts R et al.
Journal of Clinical Medicine, 2020
Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice.
Gustavsson S et al.
Molecular Genetics and Metabolism Reports, 2019
MPS-IIIA mice acquire autistic behaviours with age.
Lau AA et al.
Journal of Inherited Metabolic Disease, 2018
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome.
Lau AA et al.
Journal of Inherited Metabolic Disease, 2017
Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice.
Beard H et al.
Molecular Genetics and Metabolism, 2015
Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy.
Haurigot V et al.
The Journal of Clinical Investigation, 2013
Neonatal Bone Marrow Transplantation in MPS IIIA Mice.
Lau AA et al.
Jimd Reports, 2013
Glycosaminoglycan storage disorders: a review.
Coutinho MF et al.
Biochemistry Research International, 2012
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice.
Lau AA et al.
Experimental Neurology, 2010
Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice.
Sutherland LM et al.
Cellular and Molecular Neurobiology, 2008
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
Fraldi A et al.
Human Molecular Genetics, 2007
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
Fraldi A et al.
The Biochemical Journal, 2007
Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.
Hemsley KM et al.
Molecular Genetics and Metabolism, 2007
Purification and characterization of recombinant murine sulfamidase.
Gliddon BL et al.
Molecular Genetics and Metabolism, 2004
Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA.
Savas PS et al.
Molecular Genetics and Metabolism, 2004
Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice.
Gliddon BL et al.
Pediatric Research, 2004
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
Yogalingam G et al.
Human Mutation, 2001
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant.
Bhattacharyya R et al.
Glycobiology, 2001
Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA.
Roberts AL et al.
Molecular Genetics and Metabolism, 0
Generation of a novel immunodeficient mouse model of Mucopolysaccharidosis type IIIA to test human stem cell-based therapies.
Mandolfo O et al.
Molecular Genetics and Metabolism, 0