Cell cultures were derived from the cerebra of a control and a Gm2 gangliosidosis (Tay-Sachs disease (TSD)) foetus. Both cell lines were identified as astrocytic, based on the ultrastructural demonstration of glial fibres. The control culture exhibited morphological differentiation when exposed to dibutyryl cAMP, a finding which was not observed with the TSD cells. The TSD culture demonstrated ...

A human B-lymphoblastoid cell clone, L55-81, that produces human monoclonal antibody (MAb) to ganglioside G@ was established from peripheral blood B lymphocytes of a melanoma patient. L55-81 secretes IgMK light chain antibody in a serum-free medium. GM2 specificity of the antibody was tested by immune adherence assay, TLC immunostaining, and ELISA. Anti-GM2antibody was shown to have the ability...

We incorporate fault tolerance in designing reliable and scalable overlay networks to support topicbased publish/subscribe communication. We propose a new family of optimization problems, named MinAvg-kTCO, that captures the trade-offs among several key dimensions including fault tolerance, scalability, performance, and message dissemination. Roughly speaking, the MinAvg-kTCO problem is: use th...

Disorders of lysosomal metabolism often involve the accumulation of specific types of glycolipid, particularly gangliosides, because of either degradative failure or other currently unknown mechanisms. Although the precise role of gangliosides in cells remains enigmatic, the presence of specific abnormalities secondary to ganglioside accumulation in lysosomal diseases has suggested important bi...

Many Golgi glycosyltransferases are type II membrane proteins which are cleaved to produce soluble forms that are released from cells. Cho and Cummings recently reported that a soluble form of alpha1, 3-galactosyltransferase was comparable to its membrane bound counterpart in its ability to galactosylate newly synthesized glycoproteins (Cho,S.K. and Cummings,R.D. (1997) J. Biol. Chem., 272, 136...

Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene. Most JNCL patients exhibit a 1.02 kb genomic deletion removing exons 7 and 8 of this gene, which results in a truncated CLN3 protein carrying an aberrant C-terminus. A genetically accurate mouse model (Cln3Δex7/8 mice) for this deletion has been generated. Using cerebellar precursor cell lines generated from...

The neuropathic glycosphingolipidoses are a subgroup of lysosomal storage disorders for which there are no effective therapies. A potential approach is substrate reduction therapy using inhibitors of glucosylceramide synthase (GCS) to decrease the synthesis of glucosylceramide and related glycosphingolipids that accumulate in the lysosomes. Genz-529468, a blood-brain barrier-permeant iminosugar...

Maulik K, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-220912 Description We evaluated a boy aged 16 months with developmental arrest at the age of 6 months followed by neuroregression and recurrent generalised seizures. Perinatal and family history was not contributory. He was first born to non-consanguineous parents by term, uncomplicated vaginal delivery and weighed 2.8 kg at birth. On exa...