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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Ufd1l  -  ubiquitin fusion degradation 1 like

Mus musculus

Synonyms: UB fusion protein 1, Ubiquitin fusion degradation protein 1 homolog, Ufd1
 
 
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Disease relevance of Ufd1l

  • To determine loss-of-function effects of chick Ufd1l in NCC, we infected cardiac NCC with a retrovirus expressing antisense Ufd1l transcripts in chick embryos before their migration [1].
 

High impact information on Ufd1l

  • Cloning and characterization of the murine homolog (Ufd1l) showed it to be expressed during embryogenesis in the eyes and in the linear ear primordia [2].
  • Mouse embryos that lack Ufd1l die before organogenesis [1].
  • Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene [3].
  • Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies [4].
  • We established that in mammalian cells, Ufd1l is localized around the nucleus and that it does not interfere with Fas-and ceramide-mediated apoptosis [4].

References

  1. Functional attenuation of UFD1l, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos. Yamagishi, C., Hierck, B.P., Gittenberger-De Groot, A.C., Yamagishi, H., Srivastava, D. Pediatr. Res. (2003) [Pubmed]
  2. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Pizzuti, A., Novelli, G., Ratti, A., Amati, F., Mari, A., Calabrese, G., Nicolis, S., Silani, V., Marino, B., Scarlato, G., Ottolenghi, S., Dallapiccola, B. Hum. Mol. Genet. (1997) [Pubmed]
  3. Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene. Botta, A., Jurecic, V., Pizzuti, A., Novelli, G., Dallapiccola, B., Baldini, A. Cytogenet. Cell Genet. (1997) [Pubmed]
  4. Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies. Amati, F., Condò, I., Conti, E., Sangiuolo, F., Dallapiccola, B., Testi, R., Novelli, G. Cell Biochem. Funct. (2003) [Pubmed]
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