Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy (Q27633552)

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K Courchay

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I Callebaut

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H J Worman

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S Zinn-Justin

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language of work or name

English

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publication date

20 July 2001

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published in

FEBS Letters

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volume

501

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issue

2-3

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page(s)

171-6

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cites work

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Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

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Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy

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Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

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