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Journal Abstract Search

116 related items for PubMed ID: 30293566

  • 1.
    ; . PubMed ID:
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  • 2. PERK inhibition delays neurodegeneration and improves motor function in a mouse model of Marinesco-Sjögren syndrome.
    Grande V, Ornaghi F, Comerio L, Restelli E, Masone A, Corbelli A, Tolomeo D, Capone V, Axten JM, Laping NJ, Fiordaliso F, Sallese M, Chiesa R.
    Hum Mol Genet; 2018 Jul 15; 27(14):2477-2489. PubMed ID: 29718201
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  • 4. 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 15; 127(5):761-77. PubMed ID: 24362440
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  • 5. Review: Protein misfolding diseases - the rare case of Marinesco-Sjögren syndrome.
    Chiesa R, Sallese M.
    Neuropathol Appl Neurobiol; 2020 Jun 15; 46(4):323-343. PubMed ID: 31701543
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  • 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 09; 287(11):8552-60. PubMed ID: 22219183
    [Abstract] [Full Text] [Related]

  • 7. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.
    Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A.
    Neurobiol Dis; 2019 Apr 09; 124():218-229. PubMed ID: 30468864
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 19(1):25-35. PubMed ID: 19801575
    [Abstract] [Full Text] [Related]

  • 9. Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome.
    Amodei L, Ruggieri AG, Potenza F, Viele M, Dufrusine B, Franciotti R, Pietrangelo L, Ardini M, Stuppia L, Federici L, De Laurenzi V, Sallese M.
    J Transl Med; 2024 Aug 23; 22(1):787. PubMed ID: 39180052
    [Abstract] [Full Text] [Related]

  • 10. Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome.
    Kawahara G, Hayashi YK.
    PLoS One; 2016 Aug 23; 11(10):e0165563. PubMed ID: 27792754
    [Abstract] [Full Text] [Related]

  • 11. 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 23; 18(2):227-38. PubMed ID: 25559081
    [Abstract] [Full Text] [Related]

  • 12. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
    Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE.
    Eur J Hum Genet; 2008 Aug 23; 16(8):961-9. PubMed ID: 18285827
    [Abstract] [Full Text] [Related]

  • 13. Role of the HSP70 Co-Chaperone SIL1 in Health and Disease.
    Ichhaporia VP, Hendershot LM.
    Int J Mol Sci; 2021 Feb 04; 22(4):. PubMed ID: 33557244
    [Abstract] [Full Text] [Related]

  • 14. 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 04; 37(12):1312-4. PubMed ID: 16282977
    [Abstract] [Full Text] [Related]

  • 15. Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery.
    Roos A, Kollipara L, Buchkremer S, Labisch T, Brauers E, Gatz C, Lentz C, Gerardo-Nava J, Weis J, Zahedi RP.
    Mol Neurobiol; 2016 Oct 04; 53(8):5527-41. PubMed ID: 26468156
    [Abstract] [Full Text] [Related]

  • 16. 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 04; 37(12):1309-11. PubMed ID: 16282978
    [Abstract] [Full Text] [Related]

  • 17. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
    Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J.
    Brain; 2013 Dec 04; 136(Pt 12):3634-44. PubMed ID: 24176978
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 385():49-56. PubMed ID: 29406913
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 25(7):585-8. PubMed ID: 25958341
    [Abstract] [Full Text] [Related]

  • 20. Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders.
    Buchkremer S, González Coraspe JA, Weis J, Roos A.
    J Neuromuscul Dis; 2016 May 27; 3(2):169-181. PubMed ID: 27854219
    [Abstract] [Full Text] [Related]

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