Structure of the lamin A/C R482W mutant responsible for dominant familial partial lipodystrophy (FPLD)

AUTOR(ES)

Magracheva, Eugenia

FONTE

International Union of Crystallography

RESUMO

The crystal structure of the R482W mutant of the C-terminal domain of lamin A/C, which is responsible for familial partial lipodystrophy, has been determined at 1.5 Å resolution. A completely novel aggregation state of the mutated protein may be responsible for the changes in biological activity.

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