The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. - Archive ouverte HAL Access content directly
Journal Articles Nature Genetics Year : 2005

The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.

Anna-Kaisa Anttonen
  • Function : Author
Ibrahim Mahjneh
  • Function : Author
Riikka H Hämäläinen
  • Function : Author
Outi Kopra
  • Function : Author
Laura Waris
  • Function : Author
Mikko Anttonen
  • Function : Author
Tarja Joensuu
  • Function : Author
Hannu Kalimo
  • Function : Author
Anders Paetau
  • Function : Author
Lisbeth Tranebjaerg
  • Function : Author
Denys Chaigne
  • Function : Author
Orvar Eeg-Olofsson
  • Function : Author
Bjarne Udd
  • Function : Author
Mirja Somer
  • Function : Author
Hannu Somer
  • Function : Author
Anna-Elina Lehesjoki
  • Function : Author

Abstract

We identified the gene underlying Marinesco-Sj?n syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and Hspa5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sj?n syndrome.
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hal-00187408 , version 1 (14-11-2007)

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Anna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka H Hämäläinen, Clotilde Lagier-Tourenne, Outi Kopra, et al.. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.. Nature Genetics, 2005, 37 (12), pp.1309-11. ⟨10.1038/ng1677⟩. ⟨hal-00187408⟩
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