Results 31 to 40 of about 6,691 (192)

Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts

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, Christophe Bourgoin, Luisa Basso, Carla Emiliani, Brunella Tancini, Vanna Chigorno, Yu-Teh Li, Aldo Orlacchio, Livia Poenaru, Sandro Sonnino, Catherine Caillaud   +10 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, B A, Ripley, J A, Embil, J A, Tibbles   +3 more
openaire   +2 more sources

Neuromuscular synaptic function in mice lacking major subsets of gangliosides [PDF]

, 2008
Gangliosides are a family of sialylated glycosphingolipids enriched in the outer leaflet of neuronal membranes, in particular at synapses. Therefore, they have been hypothesized to play a functional role in synaptic transmission.
Ando, Ang, B. Todorov, B.C. Jacobs, Buchwald, Bullens, Chamberlain, Chen, Chiavegatto, Desplats, Egorushkina, F.M.P. Zitman, Fishman, Furuse, Gong, Green, H.J. Willison, Hakomori, Halstead, Halstead, Hashiramoto, Inoue, Isaev, J.J. Plomp, J.J. Verschuuren, K. Furukawa, K. Furukawa, Kaja, Kappel, Kawai, Lang, Ledeen, Ledeen, Liu, Magleby, Marconi, McLachlan, Meir, Nakatani, Ngamukote, O'Hanlon, Okada, Ortiz, Plomp, Proia, Rahmann, Ramirez, Roth, Salaun, Santafe, Sheikh, Simpson, Sohn, Sonnino, Stevens, Sugiura, Susuki, Svennerholm, Takamiya, Tanaka, Taverna, Tettamanti, Varoqueaux, Wang, Wieraszko, Willison, Wood, Wu, Wu, Wu, Wu, Yamashita, Yates   +72 more
core   +1 more source

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease

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, David Smith, Mylvaganam Jeyakumar, Terry D Butters, Mario Cortina Borja, Raymond A Dwek, Frances M Platt   +6 more
doaj   +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, David Smith, Elena Eliott-Smith, Mario Cortina-Borja, Gabriele Reinkensmeier, Terry D. Butters, Thorsten Lemm, Konrad Sandhoff, V.Hugh Perry, Raymond A. Dwek, Frances M. Platt   +10 more
doaj   +1 more source

In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside. [PDF]

PLoS ONE, 2013
The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase A, E.C. # 3.2.1.
Incilay Sinici, Sayuri Yonekawa, Ilona Tkachyova, Steven J Gray, R Jude Samulski, Warren Wakarchuk, Brian L Mark, Don J Mahuran   +7 more
doaj   +1 more source

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, Rotstein, Nora Patricia, Simon, Maria Victoria, Vera, Marcela Sonia   +3 more
core   +1 more source

Induced secretion of β-hexosaminidase by human brain endothelial cells: A novel approach in Sandhoff disease?

Neurobiology of Disease, 2010
Sandhoff disease is an autosomal recessive lysosomal disorder due to mutations in the β-hexosaminidase β-chain gene, resulting in β-hexosaminidases A (αβ) and B (ββ) deficiency and GM2 ganglioside accumulation in the brain.
Lionel Batista, Florence Miller, Céline Clave, Audrey Arfi, Gaëlle Douillard-Guilloux, Pierre-Olivier Couraud, Catherine Caillaud   +6 more
doaj   +1 more source

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, John A Olschowka, M Kerry O’Banion, Ross H Tallents, Sabine M Brouxhon, Stephanos Kyrkanides   +5 more
core   +1 more source

Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients [PDF]

Iranian Journal of Public Health, 2012
Background: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles.
H Aryan, O Aryani, K Banihashemi , T Zaman, M Houshmand   +4 more
doaj   +1 more source