AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates [PDF]
Molecular Therapy: Methods & Clinical Development, 2022 GM1 gangliosidosis is a rare, inherited neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes the lysosomal hydrolase acid β-galactosidase (β-gal). β-gal deficiency leads to toxic accumulation of GM1 ganglioside, predominantly in
Michaël Hocquemiller +12 more
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Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis [PDF]
Molecules, 2022 GM1 gangliosidosis is a rare lysosomal disease caused by the deficiency of the enzyme β-galactosidase (β-Gal; GLB1; E.C. 3.2.1.23), responsible for the hydrolysis of terminal β-galactosyl residues from GM1 ganglioside, glycoproteins, and ...
Francesca Clemente +8 more
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Adeno-associated virus expressing a blood-brain barrier–penetrating enzyme improves GM1 gangliosidosis in a preclinical model [PDF]
The Journal of Clinical InvestigationGM1 gangliosidosis is a lysosomal storage disorder (LSD) caused by genetic defects in lysosomal β-galactosidase (β-gal). The primary substrate of β-gal is GM1 ganglioside (GM1), a sialylated glycosphingolipid abundant in the central nervous system (CNS).
Saki Kondo Matsushima +13 more
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Clinical findings in Brazilian patients with adult GM1 gangliosidosis [PDF]
JIMD Reports, 2019 GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form.
Luciana Giugliani +9 more
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Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C [PDF]
Biomedicines, 2022 Background: Early diagnosis is essential in the field of lysosomal storage disorders for the proper management of patients and for starting therapies before irreversible damage occurs, particularly in neurodegenerative conditions.
Claudia Capitini +8 more
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Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts [PDF]
Orphanet Journal of Rare DiseasesBackground Clinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset of symptoms and rate of disease ...
Connor J. Lewis +8 more
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Chitotriosidase as a biomarker for gangliosidoses
Molecular Genetics and Metabolism Reports, 2021 Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states.
Sarah Kim +2 more
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A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy [PDF]
Experimental Biology and Medicine, 2021 Sichi Liu +2 more
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Molecular Genetics and Metabolism Reports, 2022 GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly ...
Richard W.D. Welford +10 more
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Frontiers in Chemical Engineering, 2022 GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of β-galactosidase (βgal) and subsequent accumulation of GM1 ganglioside in lysosomes. One of the pathological aspects of GM1 gangliosidosis, and other storage disorders, is impaired
Bipin Chakravarthy Paruchuri +3 more
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