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References

These sources were used to develop the Genetics Home Reference gene summary on the SIL1 gene.

Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005 Dec;37(12):1309-11. Epub 2005 Nov 13. PubMed citation
Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. Eur J Hum Genet. 2008 Aug;16(8):961-9. doi: 10.1038/ejhg.2008.22. Epub 2008 Feb 20. PubMed citation
Entrez Gene
Eriguchi M, Mizuta H, Kurohara K, Fujitake J, Kuroda Y. Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome. J Neurol Sci. 2008 Jul 15;270(1-2):197-200. doi: 10.1016/j.jns.2008.02.012. Epub 2008 Apr 18. PubMed citation
OMIM: SIL1, S. CEREVISIAE, HOMOLOG OF
Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schöneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schröder JM, Lochmüller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005 Dec;37(12):1312-4. Epub 2005 Nov 13. PubMed citation
Van Raamsdonk JM. Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome. Clin Genet. 2006 May;69(5):399-400. PubMed citation
Zimmermann R, Müller L, Wullich B. Protein transport into the endoplasmic reticulum: mechanisms and pathologies. Trends Mol Med. 2006 Dec;12(12):567-73. Epub 2006 Oct 30. PubMed citation
Zoghbi HY. SILencing misbehaving proteins. Nat Genet. 2005 Dec;37(12):1302-3. PubMed citation


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