Results 51 to 60 of about 1,188 (166)
Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind
Frontiers in Molecular Biosciences, 2020 The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of the
Timothy M. Cox
doaj +1 more source
Development and characterization of GM2 gangliosidoses mouse models
, 2023 GM2 gangliosidoses are a group of rare lysosomal storage disorders (LSDs) characterized by lysosomal accumulation of GM2 ganglioside in the nervous system, resulting in a range of neurodegenerative disorders.
Barker, Emily
core
Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions
Traffic, Volume 27, Issue 1, March 2026.Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang +7 more
wiley +1 more source
“IDS crossing of the Blood-Brain Barrier corrects CNS defects in MPSII mice” [PDF]
, 2010 IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice Mucopolysaccharidosis type II (MPSII), or Hunter syndrome, arises from a deficiency in iduronate 2-sulfatase (IDS), and it is characterized by progressive somatic and ...
Polito, Vinicia Assunta
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Neurobiology of Disease, 2004 Sandhoff disease is a severe neurodegenerative glycosphingolipid (GSL) lysosomal storage disorder, currently without treatment options. One therapeutic approach under investigation is substrate reduction therapy (SRT).
Ulrika Andersson +6 more
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From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +1 more source
Novel Therapies and Biochemical Insights for the GM1 and GM2 Gangliosidoses [PDF]
, 2011 Thesis advisor: Thomas N. SeyfriedGangliosides are glycosphingolipids (GSLs) containing sialic acids that play numerous roles in neuronal maturation, apoptotic signaling, angiogenesis, and cell surface receptor activity.
Arthur, Julian
core
GM1 - gangliosidosis in a Nigerian infant: A case report
Nigerian Journal of Paediatrics, 2021 Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta galactosidase (GLB11) resulting in
Abdullahi M Sakina +3 more
doaj
Orphanet Journal of Rare Diseases, 2020 Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively.
Nicole Lyn +9 more
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