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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5607
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pubmed:dateCreated |
2003-1-31
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pubmed:abstractText |
mahoganoid is a mouse coat-color mutation whose pigmentary phenotype and genetic interactions resemble those of Attractin (Atrn). Atrn mutations also cause spongiform neurodegeneration. Here, we show that a null mutation for mahoganoid causes a similar age-dependent neuropathology that includes many features of prion diseases but without accumulation of protease-resistant prion protein. The gene mutated in mahoganoid encodes a RING-containing protein with E3 ubiquitin ligase activity in vitro. Similarities in phenotype, expression, and genetic interactions suggest that mahoganoid and Atrn genes are part of a conserved pathway for regulated protein turnover whose function is essential for neuronal viability.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Atrn protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Ligases,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Mgrn1 protein, mouse,
http://linkedlifedata.com/resource/pubmed/chemical/Prions,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/Recombinant Fusion Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Ubiquitin,
http://linkedlifedata.com/resource/pubmed/chemical/Ubiquitin-Protein Ligases
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1095-9203
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
31
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pubmed:volume |
299
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
710-2
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pubmed:dateRevised |
2007-3-19
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pubmed:meshHeading |
pubmed-meshheading:12560552-Alleles,
pubmed-meshheading:12560552-Amino Acid Sequence,
pubmed-meshheading:12560552-Animals,
pubmed-meshheading:12560552-Blotting, Northern,
pubmed-meshheading:12560552-Brain,
pubmed-meshheading:12560552-Carrier Proteins,
pubmed-meshheading:12560552-Crosses, Genetic,
pubmed-meshheading:12560552-Female,
pubmed-meshheading:12560552-Gene Expression,
pubmed-meshheading:12560552-Ligases,
pubmed-meshheading:12560552-Male,
pubmed-meshheading:12560552-Membrane Proteins,
pubmed-meshheading:12560552-Mice,
pubmed-meshheading:12560552-Mice, Inbred C3H,
pubmed-meshheading:12560552-Mice, Mutant Strains,
pubmed-meshheading:12560552-Mice, Transgenic,
pubmed-meshheading:12560552-Models, Biological,
pubmed-meshheading:12560552-Molecular Sequence Data,
pubmed-meshheading:12560552-Mutation,
pubmed-meshheading:12560552-Neurodegenerative Diseases,
pubmed-meshheading:12560552-Neurons,
pubmed-meshheading:12560552-Pigmentation,
pubmed-meshheading:12560552-Prions,
pubmed-meshheading:12560552-RNA, Messenger,
pubmed-meshheading:12560552-Recombinant Fusion Proteins,
pubmed-meshheading:12560552-Transgenes,
pubmed-meshheading:12560552-Ubiquitin,
pubmed-meshheading:12560552-Ubiquitin-Protein Ligases,
pubmed-meshheading:12560552-Vacuoles
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pubmed:year |
2003
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pubmed:articleTitle |
Spongiform degeneration in mahoganoid mutant mice.
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pubmed:affiliation |
Department of Pediatrics, Department of Genetics, Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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