Cerebrospinal fluid calbindin D concentration as a biomarker of cerebellar disease progression in Niemann-Pick type C1 disease
A Bradbury, J Bagel, M Sampson, N Farhat… - … of Pharmacology and …, 2016 - ASPET
… disease is a rare, inherited, neurodegenerative disease. Clear evidence of the therapeutic
efficacy of 2-hydroxypropyl-β-cyclodextrin (HPβCD) in animal models … this study identified CSF …
efficacy of 2-hydroxypropyl-β-cyclodextrin (HPβCD) in animal models … this study identified CSF …
[HTML][HTML] Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease
… We discuss improvements in the detection of … The same is observed in a GD mouse model
with induced GCase … and second most common neurodegenerative disorder, and genetic …
with induced GCase … and second most common neurodegenerative disorder, and genetic …
Altered gut microbiota in a mouse model of Alzheimer's disease
L Zhang, Y Wang, X Xiayu, C Shi… - … Alzheimer's disease, 2017 - content.iospress.com
… Alzheimer’s disease (AD) is the most common form of neurodegenerative disease among
older … As such, it is important to identify general principles relating gut flora to AD models. …
older … As such, it is important to identify general principles relating gut flora to AD models. …
Emptying the stores: lysosomal diseases and therapeutic strategies
FM Platt - Nature reviews Drug discovery, 2018 - nature.com
… for some of these diseases were more recently identified. For … common neurodegenerative
diseases, infectious diseases, … large and small animal models in which pathogenesis and …
diseases, infectious diseases, … large and small animal models in which pathogenesis and …
[HTML][HTML] Brain pathology in mucopolysaccharidoses (MPS) patients with neurological forms
… syndrome, iduronate sulfatase deficiency), and MPS VII (Sly … neurodegenerative diseases
including Alzheimer’s disease … storage of these lipids in the mouse models of MPS IIIA, B, and …
including Alzheimer’s disease … storage of these lipids in the mouse models of MPS IIIA, B, and …
Types a and B Niemann-pick disease
EH Schuchman, RJ Desnick - Molecular genetics and metabolism, 2017 - Elsevier
… neurodegenerative disorders and delineated the disease … In 1980 Brady and Pentchev
reported a mouse model with … to continue to identify these new and alternative disease targets. …
reported a mouse model with … to continue to identify these new and alternative disease targets. …
[HTML][HTML] New treatments for the mucopolysaccharidoses: from pathophysiology to therapy
S Fecarotta, S Gasperini, G Parenti - Italian journal of pediatrics, 2018 - Springer
… existing therapies, and to identify additional therapeutic targets. … for patients affected by MPS
VII or Sly Syndrome. A phase III trial … neurodegeneration in the MPS IIIC mouse model [65]. …
VII or Sly Syndrome. A phase III trial … neurodegeneration in the MPS IIIC mouse model [65]. …
[HTML][HTML] Krabbe disease: New hope for an old disease
AM Bradbury, ER Bongarzone, MS Sands - Neuroscience letters, 2021 - Elsevier
… , critical milestones in our understanding of the disease, the identification of animal models,
and the evolution of single and multimodal therapies. The superscript numbers associated …
and the evolution of single and multimodal therapies. The superscript numbers associated …
[HTML][HTML] Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons
N Bayó-Puxan, AP Terrasso, S Creyssels, D Simão… - Scientific reports, 2018 - nature.com
… To identify a neuronal phenotype that could be used to … cells types in a MPS VII mouse model
and in other LSD, such as … other neurodegenerative diseases like Alzheimer’s disease 52 , …
and in other LSD, such as … other neurodegenerative diseases like Alzheimer’s disease 52 , …
[HTML][HTML] GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches
GM Riboldi, AB Di Fonzo - Cells, 2019 - mdpi.com
… Impaired GCase activity has been identified also in … of a family history of a neurodegenerative
disorder, therefore, it is … promising results in cellular and animal models. We are now in a …
disorder, therefore, it is … promising results in cellular and animal models. We are now in a …