Publications:

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 1141C>T; Leu381Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences

Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA

Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Leu381Phe

PubMed Link: 36142879

Variant Present in the following documents:

• Main text
• ijms-23-10970.pdf

View BVdb publication page

---

Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.

Molecular Psychiatry

Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L

Publication Date: 2022-06

Variant appearance in text: PSEN1: L381F

PubMed Link: 35365805

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1518.pdf

View BVdb publication page

---

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: L381F

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

---

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: L381F

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

---

Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome.

Frontiers In Molecular Neuroscience

Vázquez-Costa, Juan Francisco JF; Payá-Montes, María M; Martínez-Molina, Marina M; Jaijo, Teresa T; Szymanski, Jazek J; Mazón, Miguel M; Sopena-Novales, Pablo P; , ; Pérez-Tur, Jordi J; Sevilla, Teresa T

Publication Date: 2021

Variant appearance in text: PSEN1: Leu381Phe

PubMed Link: 34526879

Variant Present in the following documents:

• Main text
• fnmol-14-721047.pdf

View BVdb publication page

---

Endosomal Trafficking in Alzheimer's Disease, Parkinson's Disease, and Neuronal Ceroid Lipofuscinosis.

Molecular And Cellular Biology

Qureshi, Yasir H YH; Baez, Penelope P; Reitz, Christiane C

Publication Date: 2020-09-14

Variant appearance in text: PSEN1: Leu381Phe

PubMed Link: 32690545

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L381F

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3

View BVdb publication page

---

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Neurobiology Of Aging

Bras, Jose J; Djaldetti, Ruth R; Alves, Ana Margarida AM; Mead, Simon S; Darwent, Lee L; Lleo, Alberto A; Molinuevo, Jose Luis JL; Blesa, Rafael R; Singleton, Andrew A; Hardy, John J; Clarimon, Jordi J; Guerreiro, Rita R

Publication Date: 2016-10

Variant appearance in text: PSEN1: Leu381Phe

PubMed Link: 27524508

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

Journal Of Alzheimer'S Disease : Jad

Dolzhanskaya, Natalia N; Gonzalez, Michael A MA; Sperziani, Fiorella F; Stefl, Shannon S; Messing, Jeffrey J; Wen, Guang Y GY; Alexov, Emil E; Zuchner, Stephan S; Velinov, Milen M

Publication Date: 2014

Variant appearance in text: PSEN1: 1141C>T; Leu381Phe

PubMed Link: 24121961

Variant Present in the following documents:

• Main text

View BVdb publication page

---