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The Shwachman-Bodian-Diamond Syndrome Protein Family Is Involved in RNA Metabolism

9 Feb 2005

Abstract excerpt

A combination of structural, biochemical, and genetic studies in model organisms was used to infer a cellular role for the human protein (SBDS) responsible for Shwachman-Bodian-Diamond syndrome. The crystal structure of the SBDS homologue in Archaeoglobus fulgidus, AF0491, revealed a three domain protein. The N-terminal domain, which harbors the majority of disease-linked mutations, has a novel three-dimensional...

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PMID: 15701634
DOI: 10.1074/jbc.m414421200

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