Results 51 to 60 of about 4,845,721 (162)

Peripheral Nervous System Manifestations in a Sandhoff Disease Mouse Model: Nerve Conduction, Myelin Structure, Lipid Analysis [PDF]

, 2007
Background: Sandhoff disease is an inherited lysosomal storage disease caused by a mutation in the gene for the β-subunit (Hexb gene) of β-hexosaminidase A (αβ) and B (ββ). The β-subunit together with the GM2 activator protein catabolize ganglioside GM2.
Rena C Baek (79455), Melanie A McNally (79454), Daniel A Kirschner, Gary R Strichartz, Thomas N Seyfried (79457), Robin L Avila, Kirschner, Daniel A, Rena C Baek, Thomas N Seyfried, Avila, Robin L, Baek, Rena C, Melanie A McNally, Strichartz, Gary, Daniel A Kirschner (79459), Seyfried, Thomas N, Gary R Strichartz (79458), McNally, Melanie A, Robin L Avila (79456)   +17 more
core   +2 more sources

Juvenile form of Sandhoff disease: first case reported in Argentina [PDF]

, 2017
La enfermedad de Sandhoff es una patología neurodegenerativa, de almacenamiento lisosomal, causada por mutaciones en el gen HEXB. Existen tres formas clínicas: infantil, juvenil y adulta.
Pereyra, Marcela, Dodelson de Kremer, Raquel, Oller, Ana María del Valle, Mugnaini, Julia, Gamboni, Beatriz, Argaraña, Carlos Enrique   +5 more
core   +1 more source

Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation

, 2001
Sandhoff disease is a lysosomal storage disorder characterized by GM2 ganglioside accumulation in the central nervous system (CNS) and periphery. It results from mutations in the HEXB gene, causing a deficiency in ?-hexosaminidase.
Cortina-Borja, M, Butters, Terry.D., Dwek, Raymond .A., Norflus, F, Platt, Frances, Proia, RL, Platt, FM, Proia, Richard.L., Tifft, CJ, Tifft, Cynthia.J., Perry, V.Hugh, Norflus, Francine, Butters, TD, Perry, VH, Cortina-Borja, Mario, Platt, Frances.M., Jeyakumar, M, Jeyakumar, Mylvaganam, Dwek, RA   +18 more
core   +1 more source

MRS reveals additional hexose N-acetyl resonances in the brain of a mouse model for Sandhoff disease.

, 2005
Sandhoff disease, one of several related lysosomal storage disorders, results from the build up of N-acetyl-containing glycosphingolipids in the brain and is caused by mutations in the genes encoding the hexosaminidase beta-subunit.
Stuckey, DJ, Neville, DC, Platt, Frances, Jeyakumar, M, Styles, P, Sibson, NR, Platt, FM, Sibson, Nicola, Awan, FR, Lowe, JP, Blamire, AM, Griffin, JL   +11 more
core   +1 more source

Supplemental material for Brain endothelial specific gene therapy improves experimental Sandhoff disease

, 2019
Supplemental Material for Brain endothelial specific gene therapy improves experimental Sandhoff disease by Godwin Dogbevia, Hanna Grasshoff, Alaa Othman, Anke Penno and Markus Schwaninger in Journal of Cerebral Blood Flow ...
Markus Schwaninger (5625911), Godwin Dogbevia (7063556), Alaa Othman (196554), Hanna Grasshoff (7063559), Anke Penno (7063562)   +4 more
core   +1 more source

Clinical and genetic features of a case with juvenile onset sandhoff disease. [PDF]

BMC Neurol, 2023
Yin JH, Hu WZ, Huang Y.
europepmc   +1 more source

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff 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).
Andersson, U, Platt, Frances, Jeyakumar, M, Smith, D, Dwek, RA, Borja, MC, Butters, TD   +6 more
core   +1 more source

Infantile Sandhoff disease with ventricular septal defect: a case report. [PDF]

J Med Case Rep, 2022
Sahyouni JK, Odeh LBM, Mulla F, Junaid S, Kar SS, Al Boot Almarri NMJ.   +5 more
europepmc   +1 more source

Sandhoff Disease [PDF]

, 2020
openaire   +3 more sources

Lysosomal storage and pathologenesis in a novel in vitro cellular model of Sandhoff disease

, 2017
Sandhoff disease is a devastating autosomal recessive GM2 gangliosidosis in which a deficiency of β-hexosaminidase results in lysosomal storage of the enzyme's substrates, including GM2 and GA2 glycolipid as well as glycoprotein-derived oligosaccharides (
Boomkamp, Stephanie D.
core   +1 more source