104 related articles for article (PubMed ID: 16314860)
1. SILencing misbehaving proteins.
Zoghbi HY
Nat Genet; 2005 Dec; 37(12):1302-3. PubMed ID: 16314860
[No Abstract] [Full Text] [Related]
2. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
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
Nat Genet; 2005 Dec; 37(12):1309-11. PubMed ID: 16282978
[TBL] [Abstract][Full Text] [Related]
3. The nucleotide exchange factor activity of Grp170 may explain the non-lethal phenotype of loss of Sil1 function in man and mouse.
Weitzmann A; Volkmer J; Zimmermann R
FEBS Lett; 2006 Oct; 580(22):5237-40. PubMed ID: 16962589
[TBL] [Abstract][Full Text] [Related]
4. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
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
Nat Genet; 2005 Dec; 37(12):1312-4. PubMed ID: 16282977
[TBL] [Abstract][Full Text] [Related]
5. Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.
Van Raamsdonk JM
Clin Genet; 2006 May; 69(5):399-400. PubMed ID: 16650075
[No Abstract] [Full Text] [Related]
6. 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; 287(11):8552-60. PubMed ID: 22219183
[TBL] [Abstract][Full Text] [Related]
7. 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; 26(3):420-9. PubMed ID: 25473114
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 24473200
[TBL] [Abstract][Full Text] [Related]
9. Coordinated activation of Hsp70 chaperones.
Steel GJ; Fullerton DM; Tyson JR; Stirling CJ
Science; 2004 Jan; 303(5654):98-101. PubMed ID: 14704430
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 24362440
[TBL] [Abstract][Full Text] [Related]
11. GrpE, Hsp110/Grp170, HspBP1/Sil1 and BAG domain proteins: nucleotide exchange factors for Hsp70 molecular chaperones.
Bracher A; Verghese J
Subcell Biochem; 2015; 78():1-33. PubMed ID: 25487014
[TBL] [Abstract][Full Text] [Related]
12. [Abnormal corticogenesis in Marinesco-Sjögren syndrome].
Hamada N; Inaguma Y; Nagata K
Seikagaku; 2015 Apr; 87(2):205-8. PubMed ID: 26571577
[No Abstract] [Full Text] [Related]
13. SIL1 and SARA2 mutations in Marinesco-Sjögren and chylomicron retention diseases.
Annesi G; Aguglia U; Tarantino P; Annesi F; De Marco EV; Civitelli D; Torroni A; Quattrone A
Clin Genet; 2007 Mar; 71(3):288-9. PubMed ID: 17309654
[No Abstract] [Full Text] [Related]
14. 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; 354(1-2):112-3. PubMed ID: 25982182
[No Abstract] [Full Text] [Related]
15. A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.
Karim MA; Parsian AJ; Cleves MA; Bracey J; Elsayed MS; Elsobky E; Parsian A
Clin Genet; 2006 Nov; 70(5):420-3. PubMed ID: 17026626
[No Abstract] [Full Text] [Related]
16. Biochemistry. Cargo load reduction.
Braakman I; Otsu M
Science; 2008 Jul; 321(5888):499-500. PubMed ID: 18653871
[No Abstract] [Full Text] [Related]
17. The role of heat shock proteins as chaperones on several human diseases.
Mellati AA
Saudi Med J; 2006 Sep; 27(9):1302-5. PubMed ID: 16951762
[TBL] [Abstract][Full Text] [Related]
18. Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders.
Buchkremer S; González Coraspe JA; Weis J; Roos A
J Neuromuscul Dis; 2016 May; 3(2):169-181. PubMed ID: 27854219
[TBL] [Abstract][Full Text] [Related]
19. Chaperone-assisted folding of newly synthesized proteins in the cytosol.
Deuerling E; Bukau B
Crit Rev Biochem Mol Biol; 2004; 39(5-6):261-77. PubMed ID: 15763705
[TBL] [Abstract][Full Text] [Related]
20. Special series: Molecular chaperones in protein folding and disease.
Gestwicki JE
Biopolymers; 2010 Mar; 93(3):209-10. PubMed ID: 20039372
[No Abstract] [Full Text] [Related]
[Next] [New Search]