Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation [PDF]
, 2012 This study evaluated whether GM(2) ganglioside storage is necessary for neurodegeneration and neuroinflammation by performing β-hexosaminidase rescue experiments in neurons of HexB(−/−) mice.
Jen-nie H Miller +5 more
core +1 more source
The effects of age and ganglioside composition on the rate of motor nerve terminal regeneration following antibody-mediated injury in mice [PDF]
, 2013 Gangliosides are glycosphingolipids highly enriched in neural plasma membranes, where they mediate a diverse range of functions and can act as targets for auto-antibodies present in human immune-mediated neuropathy sera.
Cunningham, Madeleine E. +4 more
core +1 more source
Neurobiology of Disease, 2005 Sandhoff disease is an autosomal recessive neurodegenerative disease characterized by a GM2 ganglioside intralysosomal accumulation. It is due to mutations in the β-hexosaminidases β-chain gene, resulting in a β-hexosaminidases A (αβ) and B (ββ ...
Audrey Arfi +10 more
doaj +1 more source
Thymic alterations in GM2 gangliosidoses model mice. [PDF]
PLoS ONE, 2010 BACKGROUND: Sandhoff disease is a lysosomal storage disorder characterized by the absence of β-hexosaminidase and storage of GM2 ganglioside and related glycolipids.
Seiichi Kanzaki +12 more
doaj +1 more source
A New Variant of Sandhoff's Disease [PDF]
Pediatric Research, 1974 Extract: A 28-month-old Negro male with atypical Sandhoff's disease (GM2 gangliosidosis, type 2) is described. Clinical presentation closely resembled Sandhoff's disease. The appendiceal neuron cytoplasm was distended with periodic acid-Schiff (PAS)-positive material.
M W, Spence +3 more
openaire +2 more sources
AAV-mediated gene delivery in a feline model of Sandhoff disease corrects lysosomal storage in the central nervous system. [PDF]
ASN Neuro, 2015 Rockwell HE +13 more
europepmc +2 more sources
Sphingolipids as emerging mediators in retina degeneration [PDF]
, 2019 The sphingolipids ceramide (Cer), sphingosine-1-phosphate (S1P), sphingosine (Sph), and ceramide-1-phosphate (C1P) are key signaling molecules that regulate major cellular functions.
Prado Spalm, Facundo Heber +3 more
core +1 more source
The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure. [PDF]
, 2018 Sphingolipids are essential components of cellular membranes and defects in their synthesis or degradation cause severe human diseases. The efficient degradation of sphingolipids in the lysosome requires lipid-binding saposin proteins and hydrolytic ...
Cook, Georgia M +5 more
core +5 more sources
Roles and regulation of membrane-associated serine proteases [PDF]
, 2007 Pericellular proteolytic activity affects many aspects of cellular behaviour, via mechanisms involving processing of the extracellular matrix, growth factors and receptors.
Bass, Rosemary +4 more
core +1 more source
An Inducible Mouse Model of Late Onset Tay–Sachs Disease
Neurobiology of Disease, 2002 Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar +10 more
doaj +1 more source