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A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting.
Fazeli E, Child DD, Bucks SA, Stovarsky M, Edwards G, Rose SE, Yu CE, Latimer C, Kitago Y, Bird T, Jayadev S, Andersen OM, Young JE. Fazeli E, et al. Among authors: andersen om. bioRxiv [Preprint]. 2023 Nov 13:2023.07.01.547348. doi: 10.1101/2023.07.01.547348. bioRxiv. 2023. Update in: Acta Neuropathol. 2024 Jan 20;147(1):20. doi: 10.1007/s00401-023-02670-1 PMID: 37461597 Free PMC article. Updated. Preprint.
Expression of an alternatively spliced variant of SORL1 in neuronal dendrites is decreased in patients with Alzheimer's disease.
Monti G, Kjolby M, Jensen AMG, Allen M, Reiche J, Møller PL, Comaposada-Baró R, Zolkowski BE, Vieira C, Jørgensen MM, Holm IE, Valdmanis PN, Wellner N, Vægter CB, Lincoln SJ, Nykjær A, Ertekin-Taner N, Young JE, Nyegaard M, Andersen OM. Monti G, et al. Among authors: andersen om. Acta Neuropathol Commun. 2021 Mar 16;9(1):43. doi: 10.1186/s40478-021-01140-7. Acta Neuropathol Commun. 2021. PMID: 33726851 Free PMC article.
The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG, Raska J, Fojtik P, Monti G, Lunding M, Bartova S, Pospisilova V, van der Lee SJ, Van Dongen J, Bossaerts L, Van Broeckhoven C, Dols-Icardo O, Lléo A, Bellini S, Ghidoni R, Hulsman M, Petsko GA, Sleegers K, Bohaciakova D, Holstege H, Andersen OM. Jensen AMG, et al. Among authors: andersen om. Proc Natl Acad Sci U S A. 2024 Sep 10;121(37):e2408262121. doi: 10.1073/pnas.2408262121. Epub 2024 Sep 3. Proc Natl Acad Sci U S A. 2024. PMID: 39226352
Alzheimer's vulnerable brain region relies on a distinct retromer core dedicated to endosomal recycling.
Simoes S, Guo J, Buitrago L, Qureshi YH, Feng X, Kothiya M, Cortes E, Patel V, Kannan S, Kim YH, Chang KT; Alzheimer's Disease Neuroimaging Initiative; Hussaini SA, Moreno H, Di Paolo G, Andersen OM, Small SA. Simoes S, et al. Among authors: andersen om. Cell Rep. 2021 Dec 28;37(13):110182. doi: 10.1016/j.celrep.2021.110182. Cell Rep. 2021. PMID: 34965419 Free PMC article.
99 results