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STRUCTURAL CHARACTERIZATION OF THE MUTANTS OF LAMINA ROD2 BDOMAIN

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NIAID Data Ecosystem2026-05-02 收录
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LaminAbelongstotypeVintermediatefilamentproteinfamilyandispresentinallmetazoan cells except plants. Lamins provide structural rigidity to the nucleus, tether thechromosomesandmaintainhomeostasisbyplayingdiverserolesinreplication,Transcription,andDNAdamagerepair.Overthelasttwodecadestherehasbeenatremendous impetus in the research involving laminsdue to the fact that an overwhelmingnumber of mutations have been uncovered in LMNA gene which leads to a plethora ofdiseasescollectivelytermedaslaminopathies.Laminopathicnucleiinthepatientsarecharacterizedbytheirmisshapennatureandfragilityduetoimproperlaminaformationunderneath the nuclear envelope. Almost 450 mutations of lamin A have been reported inpatients worldwide. This article uncovers the structural differences of Rod 2B R377L &R377C with respect tothe wild type.

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2024-07-11
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