Activated sialidase activity in transformed lymphocytes by Epstein-Barr (EB) virus of sialidosis type I (cherry-red spot-myoclonus syndrome)

Yamamoto, Masahiko; Yamauchi, Toyoaki; Yamamoto, Kohtaro; Kobayashi, Takayoshi

doi:10.1016/0022-510x(95)00102-8

Cited by 3 publications

(1 citation statement)

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“…Her younger sister exhibited a similar clinical course, although her brother had a milder clinical course (Mitoma et al 1993). Lysosomal enzyme assay revealed an isolated neuraminidase deficiency, but -galactosidase activity was normal in these three siblings (Yamamoto et al 1995).…”

Section: Patientsmentioning

confidence: 91%

Molecular and structural studies of Japanese patients with sialidosis type 1

et al. 2000

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To gain insight into the pathogenesis of sialidosis type 1, we performed molecular investigations of two unrelated Japanese patients. Both of them are compound heterozygotes for base substitutions of 649 G-to-A and 727 G-to-A, which result in amino acid alterations V217M and G243R, respectively. Using homology modeling, the structure of human lysosomal neuraminidase was constructed and the structural changes caused by these missense mutations were deduced. The predicted change due to V217M was smaller than that caused by G243R, the latter resulting in a drastic, widespread alteration. The overexpressed gene products containing these mutations had the same molecular weight as that of the wild type, although the amounts of the products were moderately decreased. A biochemical study demonstrated that the expressed neuraminidase containing a V217M mutation was partly transported to lysosomes and showed residual enzyme activity, although a G243R mutant was retained in the endoplasmic reticulum/Golgi area and had completely lost the enzyme activity. Considering the data, we surmise that the V217M substitution may be closely associated with the phenotype of sialidosis type 1 with a late onset and moderate clinical course.

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Section: Patientsmentioning

confidence: 91%