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Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
J Clin Med. 2021 Apr 1;10(7):1435. doi: 10.3390/jcm10071435.
J Clin Med. 2021.
PMID: 33916074
Free PMC article.
Review.
Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
Ruiz-Riquelme A, Sánchez-Iglesias S, Rábano A, Guillén-Navarro E, Domingo-Jiménez R, Ramos A, Rosa I, Senra A, Nilsson P, García Á, Araújo-Vilar D, Requena JR.
Ruiz-Riquelme A, et al.
Neurobiol Dis. 2015 Nov;83:44-53. doi: 10.1016/j.nbd.2015.08.006. Epub 2015 Aug 15.
Neurobiol Dis. 2015.
PMID: 26282322
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Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.
Sánchez-Iglesias S, Unruh-Pinheiro A, Guillín-Amarelle C, González-Méndez B, Ruiz-Riquelme A, Rodríguez-Cañete BL, Rodríguez-García S, Guillén-Navarro E, Domingo-Jiménez R, Araújo-Vilar D.
Sánchez-Iglesias S, et al.
PLoS One. 2016 Jul 8;11(7):e0158874. doi: 10.1371/journal.pone.0158874. eCollection 2016.
PLoS One. 2016.
PMID: 27391332
Free PMC article.
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A new seipin-associated neurodegenerative syndrome.
Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D.
Guillén-Navarro E, et al.
J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6.
J Med Genet. 2013.
PMID: 23564749
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α-Synuclein strains target distinct brain regions and cell types.
Lau A, So RWL, Lau HHC, Sang JC, Ruiz-Riquelme A, Fleck SC, Stuart E, Menon S, Visanji NP, Meisl G, Faidi R, Marano MM, Schmitt-Ulms C, Wang Z, Fraser PE, Tandon A, Hyman BT, Wille H, Ingelsson M, Klenerman D, Watts JC.
Lau A, et al.
Nat Neurosci. 2020 Jan;23(1):21-31. doi: 10.1038/s41593-019-0541-x. Epub 2019 Dec 2.
Nat Neurosci. 2020.
PMID: 31792467
Free PMC article.
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Aβ43 aggregates exhibit enhanced prion-like seeding activity in mice.
Ruiz-Riquelme A, Mao A, Barghash MM, Lau HHC, Stuart E, Kovacs GG, Nilsson KPR, Fraser PE, Schmitt-Ulms G, Watts JC.
Ruiz-Riquelme A, et al.
Acta Neuropathol Commun. 2021 May 10;9(1):83. doi: 10.1186/s40478-021-01187-6.
Acta Neuropathol Commun. 2021.
PMID: 33971978
Free PMC article.
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Somatostatin binds to the human amyloid β peptide and favors the formation of distinct oligomers.
Wang H, Muiznieks LD, Ghosh P, Williams D, Solarski M, Fang A, Ruiz-Riquelme A, Pomès R, Watts JC, Chakrabartty A, Wille H, Sharpe S, Schmitt-Ulms G.
Wang H, et al.
Elife. 2017 Jun 26;6:e28401. doi: 10.7554/eLife.28401.
Elife. 2017.
PMID: 28650319
Free PMC article.
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Prion-like propagation of β-amyloid aggregates in the absence of APP overexpression.
Ruiz-Riquelme A, Lau HHC, Stuart E, Goczi AN, Wang Z, Schmitt-Ulms G, Watts JC.
Ruiz-Riquelme A, et al.
Acta Neuropathol Commun. 2018 Apr 3;6(1):26. doi: 10.1186/s40478-018-0529-x.
Acta Neuropathol Commun. 2018.
PMID: 29615128
Free PMC article.
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