Hernandez D, Morgan Schlicht S, Elli Clarke J, Daniszewski M, Karch C, Goate A
Stem Cell Res. 2024; 79:103495.
PMID: 39079290
PMC: 11608089.
DOI: 10.1016/j.scr.2024.103495.
Bagyinszky E, Youn Y, An S, Kim S
Clin Interv Aging. 2016; 11:1467-1488.
PMID: 27799753
PMC: 5074729.
DOI: 10.2147/CIA.S116218.
Lohmann E, Guerreiro R, Erginel-Unaltuna N, Gurunlian N, Bilgic B, Gurvit H
Neurobiol Aging. 2012; 33(8):1850.e17-27.
PMID: 22503161
PMC: 4669567.
DOI: 10.1016/j.neurobiolaging.2012.02.020.
Kim H, Kim H, Ki C, Kim S
Neurol Sci. 2010; 31(6):781-3.
PMID: 20213228
DOI: 10.1007/s10072-010-0233-5.
Papassotiropoulos A, Fountoulakis M, Dunckley T, Stephan D, Reiman E
J Clin Psychiatry. 2006; 67(4):652-70.
PMID: 16669732
PMC: 2259384.
DOI: 10.4088/jcp.v67n0418.
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner A, Doran M
J Neurol. 2005; 253(2):139-58.
PMID: 16267640
DOI: 10.1007/s00415-005-0019-5.
The role of the amyloid protein precursor (APP) in Alzheimer's disease: does the normal function of APP explain the topography of neurodegeneration?.
Small D
Neurochem Res. 1998; 23(5):795-806.
PMID: 9566620
DOI: 10.1023/a:1022471729291.
Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.
Harvey R, Ellison D, Hardy J, Hutton M, Roques P, Collinge J
J Neurol Neurosurg Psychiatry. 1998; 64(1):44-9.
PMID: 9436726
PMC: 2169918.
DOI: 10.1136/jnnp.64.1.44.
Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I).
Janicki S, Monteiro M
J Cell Biol. 1997; 139(2):485-95.
PMID: 9334350
PMC: 2139804.
DOI: 10.1083/jcb.139.2.485.
The Alzheimer's disease-associated presenilins are differentially phosphorylated proteins located predominantly within the endoplasmic reticulum.
Walter J, Capell A, Grunberg J, Pesold B, Schindzielorz A, Prior R
Mol Med. 1996; 2(6):673-91.
PMID: 8972483
PMC: 2230134.
Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues.
Lee M, Slunt H, Martin L, Thinakaran G, Kim G, Gandy S
J Neurosci. 1996; 16(23):7513-25.
PMID: 8922407
PMC: 6579112.
