MUTATIONS 73673106 GRCh37 (105) G A PSEN1 Exon 9 Point, Nonsense Coding Unknown, but 3D in silico modeling predicted pronounced structural effects. Unknown, but MRI of two carriers showed white matter and subcortical lesions, and a third carrier had lesions in the ...
Miami, United States
PAPER You C, Zeng W, Deng L, Lei Z, Gao X, Zhang VW, Wang Y
Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.Front Neurol. 2020;11:319. Epub 2020 May 5 PubMed: 32431660
Regeneron PharmaceuticalsUnited States
COMMENT This study extends prior cell culture, sub-cellular biochemical, animal, and human studies that show presenilin 1 mutations have biological consequences. As demonstrated nicely here, the stem-cell-derived model can facilitate studies of how specific PS1 ...
PAPER Schweighauser M, Shi Y, Tarutani A, Kametani F, Murzin AG, Ghetti B, Matsubara T, Tomita T, Ando T, Hasegawa K, Murayama S, Yoshida M, Hasegawa M, Scheres SH, Goedert M
RESEARCH NEWS 2020-05-28 Research News Induced pluripotent stem cell models of Alzheimer’s disease have become important because they allow researchers to study human neurons carrying AD mutations. However, iPSC lines take weeks to establish, require viral vectors to reprogram ...
PAPER Sil S, Hu G, Liao K, Niu F, Callen S, Periyasamy P, Fox HS, Buch S32453744
PAPER Hwang TW, Kim EJ, Kim D, Jeong JY, Kim GH, Lim K, Moon M, Yoon KA, Choi DE, Kim JJ32454411
PAPER Dregni AJ, Duan P, Hong M32453948
PAPER Yu L, Schneider JA, Kapasi A, Bennett DA, Boyle PA
Limbic-predominant Age-related TDP-43 Encephalopathy and Distinct Longitudinal Profiles of Domain-specific Literacy.Alzheimer Dis Assoc Disord. 2020 May 22; PubMed: 32452861
PAPER Bertrand D, Wallace TL32451956
PAPER Choi I, Seegobin SP, Liang D, Yue Z32453651