HA receptor for endocytosis |
Harlequin molecules |
AMB11 |
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abbr. Hq. The Harlequin mutation is caused by a proviral insertion in the AIFM1 gene, which encodes the apoptotic factor PDCD8 (see: AIFM1 [apoptosis inducing factor mitochondrion associated 1]). This mutation reduces AIFM1 expression about 80 % (Klein et al, 2002). Harlequin mutant mice have progressive degeneration of terminally differentiated cerebellar and retinal neurons. Mutant cerebellar granule cells are susceptible to exogenous and endogenous peroxide-mediated apoptosis, but can be rescued by AIFM1 expression. Overexpression of AIFM1 in wild-type granule cells
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