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Article

Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.

PloS one - 1 Jan 2011

Orelio Claudia, van der Sluis Renée M, Verkuijlen Paul, Nethe Micha, Hordijk Peter L, van den Berg Timo K, Kuijpers Taco W

Abstract excerpt

Shwachman-Diamond Syndrome (SDS) is a rare inherited disease caused by mutations in the SBDS gene. Hematopoietic defects, exocrine pancreas dysfunction and short stature are the most prominent clinical features. To gain understanding of the molecular properties of the ubiquitously expressed SBDS protein, we examined its intracellular localization and mobility by live cell imaging techniques. We observed that SBDS...

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Source

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Identifiers

PMID: 21695142
DOI: 10.1371/journal.pone.0020727
PMCID: PMC3113850

Genes

SBDS
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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