Homo sapiens isolate XW4294 presenilin-1 isoform I-467 (PSEN1) gene, c - Nucleotide

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A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration. [PLoS One. 2024]
A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration.
Parvand M, Liang JJH, Bozorgmehr T, Born D, Luna Cortes A, Rankin CH. PLoS One. 2024; 19(9):e0289435. Epub 2024 Sep 6.
Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features. [Alzheimers Dement. 2024]
Primary lateral sclerosis associated with PSEN1 Pro284Leu variant in a Colombian family: Clinical and neuropathological features.
Acosta-Uribe J, Villegas-Lanau A, Vallejo D, Ramírez-Aguilar L, Solano JM, Mejía-Cupajita B, Aguillón D, Moreno S, Méndez LG, Baena A, et al. Alzheimers Dement. 2024 Sep; 20(9):6384-6394. Epub 2024 Jul 27.
Presenilin deficiency enhances tau phosphorylation and its secretion. [J Neurochem. 2024]
Presenilin deficiency enhances tau phosphorylation and its secretion.
Sun Y, Islam S, Gao Y, Nakamura T, Tomita T, Michikawa M, Zou K. J Neurochem. 2024 Sep; 168(9):2956-2973. Epub 2024 Jul 1.

RefSeq alternative splicing
See 18 reference mRNA sequence splice variants for the PSEN1 gene.

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Nucleotide