Publications:

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Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Brain Communications

Ringman, John M JM; Dorrani, Naghmeh N; Fernández, Sara Gutiérrez SG; Signer, Rebecca R; Martinez-Agosto, Julian J; Lee, Hane H; Douine, Emilie D ED; Qiao, Yuchuan Y; Shi, Yonggang Y; D'Orazio, Lina L; Pawar, Sanjay S; Robbie, Leah L; Kashani, Amir H AH; Singer, Maxwell M; Byers, Joshua T JT; Magaki, Shino S; Guzman, Sam S; Sagare, Abhay A; Zlokovic, Berislav B; Cederbaum, Stephen S; Nelson, Stanley S; Sheikh-Bahaei, Nasim N; Chui, Helena C HC; Chávez-Gutiérrez, Lucía L; Vinters, Harry V HV

Publication Date: 2023

Variant appearance in text: PSEN1: F386S

PubMed Link: 36895955

Variant Present in the following documents:

• Main text
• fcad030.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: F386S

PubMed Link: 34948396

Variant Present in the following documents:

• Main text

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: PS1: F386S

PubMed Link: 34948396

Variant Present in the following documents:

• Main text

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Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease.

Neurology. Genetics

Eger, Sarah J SJ; Le Guen, Yann Y; Khan, Raiyan R RR; Hall, Jacob N JN; Kennedy, Gabriel G; Zaharchuk, Greg G; Couthouis, Julien J; Brooks, William S WS; Velakoulis, Dennis D; Napolioni, Valerio V; Belloy, Michaël E ME; Dalgard, Clifton L CL; Mormino, Elizabeth C EC; Gitler, Aaron D AD; Greicius, Michael D MD

Publication Date: 2022-02

Variant appearance in text: PSEN1: F386S

PubMed Link: 34901437

Variant Present in the following documents:

• Main text
• NG2021017153.pdf

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A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report.

Frontiers In Aging Neuroscience

Wan, Ke K; Ma, Zhen-Juan ZJ; Zhou, Xia X; Zhang, Yi-Mei YM; Yu, Xian-Feng XF; You, Meng-Zhe MZ; Huang, Chao-Juan CJ; Zhang, Wei W; Sun, Zhong-Wu ZW

Publication Date: 2021

Variant appearance in text: PSEN1: Phe386Ser

PubMed Link: 34366829

Variant Present in the following documents:

• Main text
• fnagi-13-710075.pdf

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: PSEN1: F386S

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

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Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience

Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H

Publication Date: 2016

Variant appearance in text: PS1: F386S

PubMed Link: 27014058

Variant Present in the following documents:

• Main text
• fnagi-08-00051.pdf

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Changed membrane integration and catalytic site conformation are two mechanisms behind the increased Aβ42/Aβ40 ratio by presenilin 1 familial Alzheimer-linked mutations.

Febs Open Bio

Wanngren, Johanna J; Lara, Patricia P; Ojemalm, Karin K; Maioli, Silvia S; Moradi, Nasim N; Chen, Lu L; Tjernberg, Lars O LO; Lundkvist, Johan J; Nilsson, IngMarie I; Karlström, Helena H

Publication Date: 2014

Variant appearance in text: PS1: F386S

PubMed Link: 24918054

Variant Present in the following documents:

• Main text

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: PSEN1: Phe386Ser

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

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Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry

Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H

Publication Date: 2011-04-29

Variant appearance in text: PS1: F386S

PubMed Link: 21357415

Variant Present in the following documents:

• Main text

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