scholarly journals Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

2011 ◽  
Vol 9 (3) ◽  
pp. 213-235 ◽  
Author(s):  
Kenneth J. Valenzano ◽  
Richie Khanna ◽  
Allan C. Powe ◽  
Robert Boyd ◽  
Gary Lee ◽  
...  
Keyword(s):  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Pharmacological Chaperones ◽  
Identification And Characterization ◽  
Storage Disorders

scholarly journals Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases

2016 ◽  
Vol 52 (32) ◽  
pp. 5497-5515 ◽  
Author(s):  
Elena M. Sánchez-Fernández ◽  
José M. García Fernández ◽  
Carmen Ortiz Mellet
Keyword(s):  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Future Outlook ◽  
Gm1 Gangliosidosis ◽  
Pharmacological Chaperones ◽  
Storage Disorders

Recent advancements and future outlook on pharmacological chaperones for lysosomal storage disorders using glycomimetics are discussed.

Cyclodextrin-Based Iminosugar Click Clusters: The First Examples of Multivalent Pharmacological Chaperones for the Treatment of Lysosomal Storage Disorders

ChemBioChem ◽  
2012 ◽  
Vol 13 (5) ◽  
pp. 661-664 ◽  
Author(s):  
Camille Decroocq ◽  
David Rodríguez-Lucena ◽  
Kyoko Ikeda ◽  
Naoki Asano ◽  
Philippe Compain
Keyword(s):  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Pharmacological Chaperones ◽  
Storage Disorders

scholarly journals Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders

2014 ◽  
Vol 87 (1033) ◽  
pp. 20130467 ◽  
Author(s):  
M Xing ◽  
E I Parker ◽  
A Moreno-De-Luca ◽  
E Harmouche ◽  
M R Terk
Keyword(s):  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Lipid Disorders ◽  
Storage Disorders

scholarly journals Lipid metabolic perturbation is an early-onset phenotype in adult spinster mutants: a Drosophila model for lysosomal storage disorders

2017 ◽  
Vol 28 (26) ◽  
pp. 3728-3740 ◽  
Author(s):  
Sarita Hebbar ◽  
Avinash Khandelwal ◽  
R. Jayashree ◽  
Samantha J. Hindle ◽  
Yin Ning Chiang ◽  
...  
Keyword(s):  
Lysosomal Storage Disorders ◽  
Physical Interaction ◽  
Lysosomal Storage ◽  
Drosophila Model ◽  
Interaction Partners ◽  
Fat Bodies ◽  
Systemic Nature ◽  
Accumulation Of Lipids ◽  
Storage Disorders

Intracellular accumulation of lipids and swollen dysfunctional lysosomes are linked to several neurodegenerative diseases, including lysosomal storage disorders (LSD). Detailed characterization of lipid metabolic changes in relation to the onset and progression of neurodegeneration is currently missing. We systematically analyzed lipid perturbations in spinster (spin) mutants, a Drosophila model of LSD-like neurodegeneration. Our results highlight an imbalance in brain ceramide and sphingosine in the early stages of neurodegeneration, preceding the accumulation of endomembranous structures, manifestation of altered behavior, and buildup of lipofuscin. Manipulating levels of ceramidase and altering these lipids in spin mutants allowed us to conclude that ceramide homeostasis is the driving force in disease progression and is integral to spin function in the adult nervous system. We identified 29 novel physical interaction partners of Spin and focused on the lipid carrier protein, Lipophorin (Lpp). A subset of Lpp and Spin colocalize in the brain and within organs specialized for lipid metabolism (fat bodies and oenocytes). Reduced Lpp protein was observed in spin mutant tissues. Finally, increased levels of lipid metabolites produced by oenocytes in spin mutants allude to a functional interaction between Spin and Lpp, underscoring the systemic nature of lipid perturbation in LSD.

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