UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots [PDF]
BiomoleculesBackground: Early detection of sphingolipidoses is crucial to prevent irreversible complications and improve patient outcomes. The use of urine samples dried on filter paper (DUS) is a non-invasive strategy that simplifies the collection, storage, and ...
Tristan Martineau +2 more
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Pediatric palliative care for metabolic diseases: 20‐year epidemiological survey of outpatients at a Brazilian quaternary hospital [PDF]
JIMD ReportsThe interface between pediatric palliative care (PPC) and inborn metabolic diseases (IMD) remains incipient, though these conditions fill the state of art of complex chronic diseases, eligible to this health approach.
Gustavo Marquezani Spolador +9 more
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Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases [PDF]
CellsNeurodegenerative diseases, including Alzheimer’s disease and Parkinson’s disease, are characterized by progressive neuronal loss, leading to cognitive and motor impairments.
Jessica Tittelmeier +1 more
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Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease [PDF]
Stem Cell ResearchTay-Sachs and Sandhoff diseases, are sphingolipidoses caused by rare genetic mutations in the HEXA and HEXB genes, that encode the alpha and beta subunits of lysosomal hexosaminidase, respectively.
Vukasin M. Jovanovic +9 more
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Impaired docking and recycling of synaptic vesicles in inherited lysosomal sphingolipidoses [PDF]
Cell Communication and SignalingCognitive, memory, and learning impairments are common features of many lysosomal sphingolipidoses, yet the underlying synaptic mechanisms remain poorly defined. Here, we examined the impact of galactosylceramidase (GALC) deficiency on synaptic structure
Diego Zelada +15 more
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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease [PDF]
PLoS ONE, 2017 The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in ...
Magali Pettazzoni +2 more
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Sphingolipid lysosomal storage diseases: from bench to bedside [PDF]
Lipids in Health and Disease, 2021 Johann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability.
Muna Abed Rabbo +3 more
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Therapy for the Sphingolipidoses [PDF]
Archives of Neurology, 1998 Sphingolipidoses are human metabolic storage disorders characterized by the accumulation of harmful quantities of glycosphingolipids and phosphosphingolipids. These lipids have in common a hydrophobic portion of their structure called ceramide. In glycosphingolipids, various oligosaccharides are linked to ceramide through glycosidic bonds.
Roscoe O Brady
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Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot [PDF]
American Journal of Ophthalmology Case ReportsPurpose: To describe the clinical progression and ophthalmic findings in a Japanese boy with Tay-Sachs disease at ages 5 and 8 months. Results: The patient was born at 38 weeks of gestation and developed normally until motor skill delays were identified ...
Noriko Tsutsumi +3 more
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Neurosurgical gene therapy for central nervous system diseases [PDF]
NeurotherapeuticsViral vector mediated gene therapies for neurodegenerative and neurodevelopmental conditions that require neurosurgical administration continue to expand.
Ruchit V. Patel +2 more
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