Results 71 to 80 of about 6,608 (209)
The diagnostic journey for patients with late-onset GM2 Gangliosidoses
Molecular Genetics and Metabolism Reports, 2023 Late-onset forms of GM2 gangliosidosis―mainly, Tay-Sachs disease and Sandhoff disease―are under-recognized in clinical practice. In these rare lysosomal storage disorders, deficiency of β-hexosaminidase A results in excessive accumulation of GM2 ...
Mariah C. Lopshire +5 more
doaj +1 more source
Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability. [PDF]
, 2019 There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand the ...
Dickson, Eamonn J +4 more
core +2 more sources
A Case Refort of Sandhoff Disease
Korean Journal of Ophthalmology, 2005 Sandhoff disease is a rare autosomal recessive metabolic disease presenting bilateral optic atrophy and a cherry red spot in the macula. This case report presents the characteristics of a patient with Sandhoff disease as assessed by ophthalmic, neuroimaging, and laboratory procedures.
Yie-Min, Yun, Su-Na, Lee
openaire +2 more sources
Advanced Science, Volume 12, Issue 41, November 6, 2025.In superficial second‐degree burn wounds, Gb3 turns on genes related to papillary cells through the FGF2 signaling pathway. This increases the ability of cells to break down fibrin and decreases fibrosis, which ultimately prevents scar formation in burn injuries.
Sujie Xie +13 more
wiley +1 more source
Journal of Lipid Research, 1978 The cellular content of total and individual phospholipids and gangliosides was measured in fibroblasts cultured from four normal subjects, three patients with lysosomal lipid storage diseases, and two subjects with homozygous familial ...
P H Fishman +4 more
doaj +1 more source
Apoptotic signaling through CD95 (Fas/Apo-1) activates an acidic sphingomyelinase. [PDF]
, 1994 Intracellular pathways leading from membrane receptor engagement to apoptotic cell death are still poorly characterized. We investigated the intracellular signaling generated after cross-linking of CD95 (Fas/Apo-1 antigen), a broadly expressed cell ...
Azuma, M +7 more
core +2 more sources
Cell Proliferation, Volume 58, Issue 11, November 2025.CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far +4 more
wiley +1 more source
Delivering Progranulin to Astrocytic Lysosomes Promotes Growth of Co‐Cultured Neurons
Journal of Neurochemistry, Volume 169, Issue 11, November 2025.Loss‐of‐function progranulin (GRN) mutations cause frontotemporal dementia. Most of these mutations cause haploinsufficiency of progranulin, a secreted pro‐protein that has neurotrophic and anti‐inflammatory effects. Progranulin is constitutively secreted before trafficking to lysosomes and it is unclear if its effects are mediated by extracellular ...
Azariah K. Kaplelach +6 more
wiley +1 more source
Universitas Scientiarum, 2016 β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica +7 more
doaj +1 more source
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin. [PDF]
, 2013 Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late ...
Beltrami, Antonio Paolo +8 more
core +2 more sources