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.

scholarly journals GM1 gangliosidosis: Case report

2010 ◽  
Vol 63 (5-6) ◽  
pp. 427-430
Author(s):  
Slobodan Obradovic ◽  
Olivera Laban ◽  
Zoran Igrutinovic ◽  
Biljana Vuletic ◽  
Ana Vujic ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Manifestations ◽  
Lysosomal Storage Disorders ◽  
Facial Features ◽  
Lysosomal Storage ◽  
Nasal Bridge ◽  
Gm1 Gangliosidosis ◽  
Decerebrate Rigidity ◽  
Depressed Nasal Bridge ◽  
Storage Disorders

Introduction. Gangliosidoses occur due to inhereted deficiency of human ? - galaktosidase,resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can appear at any age and each of them can vary from mild to severe conditions. Case report. We present a patient with an early, infintile type of GM1 gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with amimic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. Conclusion. The absence of ?-galaktosidase enzyme activaty at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.

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 Potential resistance to SARS-CoV-2 infection in lysosomal storage disorders

2021 ◽  
Author(s):  
Maurizio Pieroni ◽  
Federico Pieruzzi ◽  
Renzo Mignani ◽  
Francesca Graziani ◽  
Iacopo Olivotto ◽  
...  
Keyword(s):  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders

scholarly journals Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Maria De Risi ◽  
Michele Tufano ◽  
Filomena Grazia Alvino ◽  
Maria Grazia Ferraro ◽  
Giulia Torromino ◽  
...  
Keyword(s):  
Heparan Sulfate ◽  
Sch 23390 ◽  
Lysosomal Storage Disorders ◽  
Dopamine Neurons ◽  
Therapeutic Effects ◽  
Lysosomal Storage ◽  
Cellular Models ◽  
Mps Ii ◽  
Mps Iiia ◽  
Storage Disorders

AbstractLysosomal storage disorders characterized by altered metabolism of heparan sulfate, including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions leading to neurodegeneration and dementia in children. In lysosomal storage disorders, dementia is preceded by severe and therapy-resistant autistic-like symptoms of unknown cause. Using mouse and cellular models of MPS-IIIA, we discovered that autistic-like behaviours are due to increased proliferation of mesencephalic dopamine neurons originating during embryogenesis, which is not due to lysosomal dysfunction, but to altered HS function. Hyperdopaminergia and autistic-like behaviours are corrected by the dopamine D1-like receptor antagonist SCH-23390, providing a potential alternative strategy to the D2-like antagonist haloperidol that has only minimal therapeutic effects in MPS-IIIA. These findings identify embryonic dopaminergic neurodevelopmental defects due to altered function of HS leading to autistic-like behaviours in MPS-II and MPS-IIIA and support evidence showing that altered HS-related gene function is causative of autism.

Lysosomal Storage Disorders as an Etiology of Nonimmune Hydrops Fetalis: A Systematic Review

2021 ◽  
Author(s):  
Neel S. Iyer ◽  
Alexis C. Gimovsky ◽  
Carlos R. Ferreira ◽  
Elizabeth J. Critchlow ◽  
Huda B. Al‐kouatly
Keyword(s):  
Systematic Review ◽  
Lysosomal Storage Disorders ◽  
Hydrops Fetalis ◽  
Lysosomal Storage ◽  
Nonimmune Hydrops ◽  
Storage Disorders
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