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

Journal article

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. Affected individuals undergo progressive neurodegeneration in response to the glycosphingolipid storage. (1)H magnetic resonance spectra of perchloric acid extracts of Sandhoff mouse brain exhibited several resonances ca 2.07 ppm that were not present in the corre...

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Authors: Lowe, J; Stuckey, D; Awan, F; Jeyakumar, M; Neville, D

• Publication status: Published
• Journal: NMR in biomedicine
• Volume: 18
• Issue: 8
• Pages: 517-526
• Publication date: 2005-12-01
• DOI: 10.1002/nbm.984
• EISSN: 1099-1492
• ISSN: 0952-3480
• Language: English
• Keywords: Animals; Magnetic Resonance Spectroscopy; Hexoses; Carbohydrate Conformation; Disease Models, Animal; Sandhoff Disease; Tissue Extracts; Humans; Disease Progression; Molecular Sequence Data; Mice; Mice, Inbred C57BL; Oligosaccharides; Carbohydrate Sequence