Liu L, Lauro BM, Wolfe MS, Selkoe DJ. Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides. J Biol Chem. 2021;296:100393. Epub 2021 Feb 8 PubMed.
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Mutations
- PSEN1 R35Q
- PSEN1 A79V
- PSEN1 V96F
- PSEN1 F105I
- PSEN1 F105V
- PSEN1 F105L
- PSEN1 L113Q
- PSEN1 L113P
- PSEN1 Y115H
- PSEN1 Y115D
- PSEN1 Y115C
- PSEN1 T116N
- PSEN1 T116I
- PSEN1 P117A
- PSEN1 P117S
- PSEN1 P117R
- PSEN1 P117L
- PSEN1 E120K
- PSEN1 E120G
- PSEN1 E120D (A>C)
- PSEN1 L171P
- PSEN1 E184D
- PSEN1 G206A
- PSEN1 G217R
- PSEN1 Q223R
- PSEN1 L235P
- PSEN1 I238M
- PSEN1 T245P
- PSEN1 A246E
- PSEN1 A260V
- PSEN1 L282V
- PSEN1 L282R
- PSEN1 A426P
- PSEN1 T440del
- PSEN1 I83_M84del
- PSEN1 I168del (TATdel)
- PSEN1 S169del (S170del)
- PSEN1 S212Y
- PSEN1 E120D (A>T)
- PSEN1 I168del (TTAdel)
- PSEN1 F105C
- PSEN1 F176L
- PSEN1 T116R
- PSEN1 L150P
- PSEN1 L134R
- PSEN1 P117Q
- PSEN1 T116_P117delinsST
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