1. Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses.

    Acta Neuropathologica 114(5):481 (2007) PMID 17653558

    A number of the lysosomal storage diseases that have now been characterized are associated with intra-lysosomal accumulation of lipids, caused by defective lysosomal enzymes. We have previously reported neuronal accumulation of both alpha- and beta-synucleins in brain tissue of a GM2 gangliosido...
  2. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

    Nature Medicine 13(11):1363 (2007) PMID 17952091

    Proteoglycans are a family of extracellular macromolecules comprised of glycosaminoglycan chains of a repeated disaccharide linked to a central core protein. Proteoglycans have critical roles in chondrogenesis and skeletal development. The glycosaminoglycan chains found in cartilage proteoglycan...
  3. Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses.

    Journal of Clinical Investigation 113(2):200 (2004) PMID 14722612 PMCID PMC311432

    Mice containing a disruption of the Hexb gene have provided a useful model system for the study of the human lysosomal storage disorder known as Sandhoff disease (SD). Hexb(-/-) mice rapidly develop a progressive neurologic disease of ganglioside GM2 and GA2 storage. Our study revealed that the ...
  4. Neuronal accumulation of alpha- and beta-synucleins in the brain of a GM2 gangliosidosis mouse model.

    Neuroreport 14(4):551 (2003) PMID 12657883

    Sandhoff disease (SD) is a heritable lysosomal storage disease resulting from impaired degradation of GM2 ganglioside. The hallmark pathology of the SD model mouse brain is GM2 ganglioside accumulation in neurons. In the present study, we immunohistochemically investigated the neuronal pathology...
  5. Plasmid-based gene transfer ameliorates visceral storage in a mouse model of Sandhoff disease.

    Journal of Molecular Medicine (Berlin, Germany) 81(3):185 (2003) PMID 12682727

    Sandhoff disease is a severe neurodegenerative disorder with visceral involvement caused by mutations in the HEXB gene coding for the beta subunit of the lysosomal hexosaminidases A and B. HEXB mutations result in the accumulation of undegraded substrates such as GM2 and GA2 in lysosomes. We eva...