Results 11 to 20 of about 6,608 (209)

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   +3 more sources

Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease [PDF]

Cells
Sandhoff disease (SD) is a progressive neurodegenerative lysosomal storage disorder characterized by GM2 ganglioside accumulation as a result of mutations in the HEXB gene, which encodes the β-subunit of the enzyme β-hexosaminidase.
Nick Platt, Dawn Shepherd, David A. Smith, Claire Smith, Kerri-Lee Wallom, Raashid Luqmani, Grant C. Churchill, Antony Galione, Frances M. Platt   +8 more
doaj   +2 more sources

Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage. [PDF]

PLoS ONE, 2017
In Sandhoff disease (SD), the activity of the lysosomal hydrolytic enzyme, β-hexosaminidase (Hex), is lost due to a Hexb gene defect, which results in the abnormal accumulation of the substrate, GM2 ganglioside (GM2), in neuronal cells, causing neuronal ...
Yasuhiro Ogawa, Katsutoshi Kaizu, Yusuke Yanagi, Subaru Takada, Hitoshi Sakuraba, Kazuhiko Oishi   +5 more
doaj   +2 more sources

A case report of Sandhoff disease. [PDF]

Clin Neuroradiol, 2011
Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease. A case of an 18-month-old infant admitted for psychomotor regression and drug resistant myoclonic epilepsy is presented.
Saouab R, Mahi M, Abilkacem R, Boumdin H, Chaouir S, Agader O, Amil T, Hanine A.   +7 more
europepmc   +3 more sources

Brain endothelial specific gene therapy improves experimental Sandhoff disease. [PDF]

J Cereb Blood Flow Metab, 2020
Dogbevia G, Grasshoff H, Othman A, Penno A, Schwaninger M.   +4 more
europepmc   +2 more sources

Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease. [PDF]

J Clin Med, 2020
Kaya E, Smith DA, Smith C, Boland B, Strupp M, Platt FM.   +5 more
europepmc   +2 more sources

Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity. [PDF]

Mol Ther, 2019
Marshall J, Nietupski JB, Park H, Cao J, Bangari DS, Silvescu C, Wilper T, Randall K, Tietz D, Wang B, Ying X, Leonard JP, Cheng SH.   +12 more
europepmc   +2 more sources

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease. [PDF]

PLoS ONE, 2011
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified ...
Takashi Kodama, Tadayasu Togawa, Takahiro Tsukimura, Ikuo Kawashima, Kazuhiko Matsuoka, Keisuke Kitakaze, Daisuke Tsuji, Kohji Itoh, Yo-Ichi Ishida, Minoru Suzuki, Toshihiro Suzuki, Hitoshi Sakuraba   +11 more
doaj   +1 more source

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +17 more sources

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, Linley Mangini, Jeremy L Van Vleet, Carley Corado, Emma McCullagh, Heather L Gray-Edwards, Douglas R Martin, Brett E Crawford, Roger Lawrence   +8 more
doaj   +1 more source