Results 41 to 50 of about 1,294 (181)
Cells, 2020 (1) Lysosomal storage diseases are rare inherited disorders with no standardized or commercially available tests for biochemical diagnosis. We present factors influencing the quality of enzyme assays for metachromatic leukodystrophy (MLD) and ...
Sebastian Strobel +6 more
doaj +1 more source
GM1 and GM2 gangliosides: recent developments
Biomolecular Concepts, 2014 GM1 and GM2 gangliosides are important components of the cell membrane and play an integral role in cell signaling and metabolism. In this conceptual overview, we discuss recent developments in our understanding of the basic biological functions of GM1 ...
Bisel Blaine +2 more
doaj +1 more source
Aberrant Ganglioside Functions to Underpin Dysregulated Myelination, Insulin Signalling, and Cytokine Expression: Is There a Link and a Room for Therapy? [PDF]
, 2022 Gangliosides are molecules widely present in the plasma membranes of mammalian cells, participating in a variety of processes, including protein organization, transmembrane signalling and cell adhesion. Gangliosides are abundant in the grey matter of the
de Munter, Johannes +8 more
core +1 more source
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses [PDF]
Journal of Clinical Investigation, 2004 Mice containing a disruption of the Hexb gene have provided a useful model system for the study of the human lysosomal storage disorder known as Sandhoff disease (SD). Hexb(-/-) mice rapidly develop a progressive neurologic disease of ganglioside GM2 and GA2 storage.
Akira, Yamaguchi +5 more
openaire +2 more sources
Molecular Genetics and Metabolism Reports, 2019 Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides.
Li Ou +3 more
doaj +1 more source
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
doaj +1 more source
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
Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.
PLoS ONE, 2020 β-hexosaminidase is an enzyme responsible for the degradation of gangliosides, glycans, and other glycoconjugates containing β-linked hexosamines that enter the lysosome. GM2 gangliosidoses, such as Tay-Sachs and Sandhoff, are lysosomal storage disorders
Catlyn Cavender +8 more
doaj +1 more source
2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot +33 more
wiley +1 more source
A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]
, 2010 Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús +7 more
core