| 1 | HSPA5, MSS, SIL1
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| C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.
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| Howes J, Shimizu Y, Feige MJ, Hendershot LM.
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| J Biol Chem 287(11):8552-60. doi: 10.1074/jbc.M111.333286. Epub 2012 Jan 4.
2012
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| 2 | MSS, SIL1
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| Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
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| Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T.
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| J Hum Genet 55(3):142-6. Epub 2010 Jan 29.
2010
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| 3 | SIL1
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| Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome.
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| Zhao L, Rosales C, Seburn K, Ron D, Ackerman SL.
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| Hum Mol Genet 19(1):25-35. Epub .
2010
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| 4 | MSS, SIL1
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| Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
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| Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE.
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| Eur J Hum Genet 16(8):961-9. Epub 2008 Feb 20.
2008
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| 5 | MSS, SIL1
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| Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.
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| Eriguchi M, Mizuta H, Kurohara K, Fujitake J, Kuroda Y.
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| J Neurol Sci 270(1-2):197-200. Epub 2008 Apr 18.
2008
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| 6 | SIL1, MSS, CMRD, SAR1B
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| SIL1 and SARA2 mutations in Marinesco-Sjogren and chylomicron retention diseases.
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| Annesi G, Aguglia U, Tarantino P, Annesi F, De Marco E, Civitelli D, Torroni A, Quattrone A.
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| Clin Genet 71(3):288-9. No abstract available. 2007
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| 7 | MSS, SIL1
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| Loss of function mutations in SIL1 cause Marinesco-Sjogren syndrome.
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| Van Raamsdonk JM.
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| Clin Genet 69(5):399-400. No abstract available. 2006
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| 8 | SIL1, MSS
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| A novel mutation in BAP/SIL1 gene causes Marinesco-Sjogren syndrome in an extended pedigree.
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| Karim MA, Parsian AJ, Cleves MA, Bracey J, Elsayed MS, Elsobky E, Parsian A.
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| Clin Genet 70(5):420-3. No abstract available. 2006
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| 9 | SIL1, MSS
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| Myopathy is a prominent feature in Marinesco-Sjšgren syndrome: A muscle computed tomography study.
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| Mahjneh I, Anttonen AK, Somer M, Paetau A, Lehesjoki AE, Somer H, Udd B.
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| J Neurol 253(3):301-6. Epub 2005 Sep 15. 2006
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| 10 | SIL1, HSPA5
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| Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP.
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| Zhao L, Longo-Guess C, Harris BS, Lee JW, Ackerman SL.
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| Nat Genet 37(9):974-9. Epub 2005 Aug 14. 2005
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| 11 | SIL1, HSPA5, MSS
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| The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone.
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| Anttonen AK, Mahjneh I, Hamalainen 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.
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| Nat Genet 37(12):1309-11. Epub 2005 Nov 13. 2005
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| 12 | SIL1, HSPA5, MSS, SAR1B
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| Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy.
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| Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K.
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| Nat Genet 37(12):1312-4. Epub 2005 Nov 13. 2005
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| 13 | HSPA5, SIL1
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| BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP.
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| Chung KT, Shen Y, Hendershot LM.
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| J Biol Chem 277(49):47557-63. Epub 2002 Sep 27. 2002
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| 14 | SIL1
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| LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum.
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| Tyson JR, Stirling CJ.
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| EMBO J 19(23):6440-52. 2000
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