2006
DOI: 10.1074/mcp.r600003-mcp200
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Guilt by Association

Abstract: The discovery that many inherited diseases are linked to interacting nuclear envelope proteins has raised the possibility that human genetic studies could be assisted by a fusion with proteomics. Two principles could be applied. In the first, the proteome of an organelle associated with a genetically variable disease is determined. The chromosomal locations of the genes encoding the organellar proteins are then determined. If a related disease is linked to a large chromosomal region that includes a gene identi… Show more

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Cited by 28 publications
(11 citation statements)
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References 121 publications
(128 reference statements)
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“…The idea of more tissue-specific NETs participating in protein complexes at the NE whose disruption could lead to more muscle-specific pathologies makes sense (70). It is hard otherwise to explain how mutations in ubiquitous proteins like Lamin A, Emerin, or the Nesprin proteins could result in tissue-specific pathologies (1823).…”
Section: Discussionmentioning
confidence: 99%
“…The idea of more tissue-specific NETs participating in protein complexes at the NE whose disruption could lead to more muscle-specific pathologies makes sense (70). It is hard otherwise to explain how mutations in ubiquitous proteins like Lamin A, Emerin, or the Nesprin proteins could result in tissue-specific pathologies (1823).…”
Section: Discussionmentioning
confidence: 99%
“…Mutations in lamins and NETs, often collectively referred to as the lamina, have been linked to distinct diseases that each exhibit tissue-specific pathologies ranging from muscular dystrophies to neuropathy, dermopathy, lipodystrophy, bone disorders and progeroid aging syndromes 1 , 5 . As the proteins mutated in these disorders are all widely expressed it has been proposed that as yet unidentified tissue-specific partners might mediate the tissue preferences in pathology 1 , 6 , 7 …”
Section: Introductionmentioning
confidence: 99%
“…The new NETs identified by proteomics may provide an answer to a conundrum regarding these diseases, namely how can mutations in near ubiquitous proteins in the NE cause diseases restricted to specific tissues? A potential resolution can be found in the “guilt by association” hypothesis that disease-causing mutations in relatively ubiquitous NE proteins might disrupt binding to as yet unidentified tissue-specific partner proteins to generate pathology in that particular tissue 31 . This idea is supported by observations that many disease-linked NE proteins appear to function in complexes and that few have specific enzymatic functions themselves that could result in pathologies.…”
Section: Introductionmentioning
confidence: 99%