301 related articles for article (PubMed ID: 24176978)
21. 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]
22. 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]
23. 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]
24. 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]
25. 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]
26. Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
Bayram N; Kaçar Bayram A; Daimagüler HS; Dafsari HS; Bamborschke D; Uyanik G; Erdogan M; Özsaygılı C; Pangal E; Yuvaci İ; Doğanay S; Gümüş H; Per H; Jungbluth H; Çırak S
Eur J Ophthalmol; 2022 May; 32(3):NP92-NP97. PubMed ID: 34075802
[TBL] [Abstract][Full Text] [Related]
27. Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.
Takahata T; Yamada K; Yamada Y; Ono S; Kinoshita A; Matsuzaka T; Yoshiura K; Kitaoka T
J Hum Genet; 2010 Mar; 55(3):142-6. PubMed ID: 20111056
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Other autosomal recessive and childhood ataxias.
De Michele G; Filla A
Handb Clin Neurol; 2012; 103():343-57. PubMed ID: 21827899
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.
Nair P; Hamzeh AR; Mohamed M; Tawfiq N; Al-Ali MT; Bastaki F
Med Princ Pract; 2016; 25(6):580-582. PubMed ID: 27544240
[TBL] [Abstract][Full Text] [Related]
32. Targeting the enhanced ER stress response in Marinesco-Sjögren syndrome.
Kashimada A; Hasegawa S; Isagai T; Uchiyama T; Matsuo M; Kawai M; Goto M; Morio T; Hayashi YK; Takagi M
J Neurol Sci; 2018 Feb; 385():49-56. PubMed ID: 29406913
[TBL] [Abstract][Full Text] [Related]
33. Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome.
Zhao L; Rosales C; Seburn K; Ron D; Ackerman SL
Hum Mol Genet; 2010 Jan; 19(1):25-35. PubMed ID: 19801575
[TBL] [Abstract][Full Text] [Related]
34. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
Lagier-Tourenne C; Tranebaerg L; Chaigne D; Gribaa M; Dollfus H; Silvestri G; Bétard C; Warter JM; Koenig M
Eur J Hum Genet; 2003 Oct; 11(10):770-8. PubMed ID: 14512967
[TBL] [Abstract][Full Text] [Related]
35. PERK inhibition attenuates the abnormalities of the secretory pathway and the increased apoptotic rate induced by SIL1 knockdown in HeLa cells.
Capone V; Clemente E; Restelli E; Di Campli A; Sperduti S; Ornaghi F; Pietrangelo L; Protasi F; Chiesa R; Sallese M
Biochim Biophys Acta Mol Basis Dis; 2018 Oct; 1864(10):3164-3180. PubMed ID: 30293566
[TBL] [Abstract][Full Text] [Related]
36. [Marinesco-Sjögren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation].
Berio A; Piazzi A
Pediatr Med Chir; 1996; 18(1):99-103. PubMed ID: 8685033
[TBL] [Abstract][Full Text] [Related]
37. Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.
Gatz C; Hathazi D; Münchberg U; Buchkremer S; Labisch T; Munro B; Horvath R; Töpf A; Weis J; Roos A
Front Neurol; 2019; 10():562. PubMed ID: 31258504
[No Abstract] [Full Text] [Related]
38. GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
Haugarvoll K; Johansson S; Rodriguez CE; Boman H; Haukanes BI; Bruland O; Roque F; Jonassen I; Blomqvist M; Telstad W; Månsson JE; Knappskog PM; Bindoff LA
PLoS One; 2017; 12(1):e0169309. PubMed ID: 28052128
[TBL] [Abstract][Full Text] [Related]
39. Review: Protein misfolding diseases - the rare case of Marinesco-Sjögren syndrome.
Chiesa R; Sallese M
Neuropathol Appl Neurobiol; 2020 Jun; 46(4):323-343. PubMed ID: 31701543
[TBL] [Abstract][Full Text] [Related]
40. 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. PubMed ID: 25559081
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
