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Results: 1 to 20 of 110

Similar articles for PubMed (Select 22219183)

1.

C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.

Howes J, Shimizu Y, Feige MJ, Hendershot LM.

J Biol Chem. 2012 Mar 9;287(11):8552-60. doi: 10.1074/jbc.M111.333286. Epub 2012 Jan 4.

2.

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation.

Cerami C, Tarantino P, Cupidi C, Annesi G, Lo Re V, Gagliardi M, Piccoli T, Quattrone A.

J Neurol Sci. 2015 Jul 15;354(1-2):112-3. doi: 10.1016/j.jns.2015.04.026. Epub 2015 Apr 24. No abstract available.

PMID:
25982182
3.

SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.

Byrne S, Dlamini N, Lumsden D, Pitt M, Zaharieva I, Muntoni F, King A, Robert L, Jungbluth H.

Neuromuscul Disord. 2015 Jul;25(7):585-8. doi: 10.1016/j.nmd.2015.04.003. Epub 2015 Apr 14.

PMID:
25958341
4.

The nucleotide exchange factors Grp170 and Sil1 induce cholera toxin release from BiP to enable retrotranslocation.

Williams JM, Inoue T, Chen G, Tsai B.

Mol Biol Cell. 2015 Jun 15;26(12):2181-9. doi: 10.1091/mbc.E15-01-0014. Epub 2015 Apr 15.

PMID:
25877869
5.

BiP and its nucleotide exchange factors Grp170 and Sil1: mechanisms of action and biological functions.

Behnke J, Feige MJ, Hendershot LM.

J Mol Biol. 2015 Apr 10;427(7):1589-608. doi: 10.1016/j.jmb.2015.02.011. Epub 2015 Feb 16. Review.

PMID:
25698114
6.

A nucleotide exchange factor promotes endoplasmic reticulum-to-cytosol membrane penetration of the nonenveloped virus simian virus 40.

Inoue T, Tsai B.

J Virol. 2015 Apr;89(8):4069-79. doi: 10.1128/JVI.03552-14. Epub 2015 Feb 4.

PMID:
25653441
7.

Neurodegeneration: selective vulnerability.

Carr F.

Nat Rev Neurosci. 2015 Mar;16(3):123. doi: 10.1038/nrn3920. Epub 2015 Jan 29. No abstract available.

PMID:
25630994
8.

SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India.

Jauhari P, Sahu JK, Roos A, Senderek J, Vyas S, Singhi P.

J Pediatr Neurosci. 2014 Sep-Dec;9(3):291-2. doi: 10.4103/1817-1745.147597. No abstract available.

9.

An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response.

Kato M, Shimizu A, Yokoyama Y, Kaira K, Shimomura Y, Ishida-Yamamoto A, Kamei K, Tokunaga F, Ishikawa O.

J Invest Dermatol. 2015 May;135(5):1253-60. doi: 10.1038/jid.2015.12. Epub 2015 Jan 23.

PMID:
25615553
10.

Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS.

Filézac de L'Etang A, Maharjan N, Cordeiro Braña M, Ruegsegger C, Rehmann R, Goswami A, Roos A, Troost D, Schneider BL, Weis J, Saxena S.

Nat Neurosci. 2015 Feb;18(2):227-38. doi: 10.1038/nn.3903. Epub 2015 Jan 5.

PMID:
25559081
11.

Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.

Vasudevan D, Takeuchi H, Johar SS, Majerus E, Haltiwanger RS.

Curr Biol. 2015 Feb 2;25(3):286-95. doi: 10.1016/j.cub.2014.11.049. Epub 2014 Dec 24.

PMID:
25544610
12.

Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion.

Ichhaporia VP, Sanford T, Howes J, Marion TN, Hendershot LM.

Mol Biol Cell. 2015 Feb 1;26(3):420-9. doi: 10.1091/mbc.E14-09-1392. Epub 2014 Dec 3.

13.

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M.

Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21.

PMID:
25413698
14.

KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.

Gallego-Iradi C, Bickford JS, Khare S, Hall A, Nick JA, Salmasinia D, Wawrowsky K, Bannykh S, Huynh DP, Rincon-Limas DE, Pulst SM, Nick HS, Fernandez-Funez P, Waters MF.

Neurobiol Dis. 2014 Nov;71:270-9. doi: 10.1016/j.nbd.2014.08.020. Epub 2014 Aug 22.

PMID:
25152487
15.

Rab18 and a Rab18 GEF complex are required for normal ER structure.

Gerondopoulos A, Bastos RN, Yoshimura S, Anderson R, Carpanini S, Aligianis I, Handley MT, Barr FA.

J Cell Biol. 2014 Jun 9;205(5):707-20. doi: 10.1083/jcb.201403026. Epub 2014 Jun 2.

16.

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK.

Orphanet J Rare Dis. 2014 Apr 23;9:58. doi: 10.1186/1750-1172-9-58.

17.

The nucleotide exchange factor SIL1 is required for glucose-stimulated insulin secretion from mouse pancreatic beta cells in vivo.

Ittner AA, Bertz J, Chan TY, van Eersel J, Polly P, Ittner LM.

Diabetologia. 2014 Jul;57(7):1410-9. doi: 10.1007/s00125-014-3230-z. Epub 2014 Apr 15.

PMID:
24733160
18.

Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

Hasegawa S, Imai K, Yoshida K, Okuno Y, Muramatsu H, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Kojima S, Ogawa S, Morio T, Mizutani S, Takagi M.

J Neurol Sci. 2014 May 15;340(1-2):86-90. doi: 10.1016/j.jns.2014.02.033. Epub 2014 Mar 4.

PMID:
24631270
19.

SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.

Inaguma Y, Hamada N, Tabata H, Iwamoto I, Mizuno M, Nishimura YV, Ito H, Morishita R, Suzuki M, Ohno K, Kumagai T, Nagata K.

EMBO Mol Med. 2014 Mar;6(3):414-29. doi: 10.1002/emmm.201303069. Epub 2014 Jan 28.

20.

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.

Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J.

Acta Neuropathol. 2014 May;127(5):761-77. doi: 10.1007/s00401-013-1224-4. Epub 2013 Dec 21.

PMID:
24362440
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