| A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration. | A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration.
Parvand M, Liang JJH, Bozorgmehr T, Born D, Luna Cortes A, Rankin CH., Free PMC Article | 09/14/2024 |
| APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease. | APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease.
Quiroz YT, Aguillon D, Aguirre-Acevedo DC, Vasquez D, Zuluaga Y, Baena AY, Madrigal L, Hincapié L, Sanchez JS, Langella S, Posada-Duque R, Littau JL, Villalba-Moreno ND, Vila-Castelar C, Ramirez Gomez L, Garcia G, Kaplan E, Rassi Vargas S, Ossa JA, Valderrama-Carmona P, Perez-Corredor P, Krasemann S, Glatzel M, Kosik KS, Johnson K, Sperling RA, Reiman EM, Sepulveda-Falla D, Lopera F, Arboleda-Velasquez JF. | 08/13/2024 |
| The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Abeta43 and atypical clinical manifestations. | The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.
Arber C, Belder CRS, Tomczuk F, Gabriele R, Buhidma Y, Farrell C, O'Connor A, Rice H, Lashley T, Fox NC, Ryan NS, Wray S., Free PMC Article | 07/22/2024 |
| Presenilin-1 DeltaE9 mutation associated sarcoplasmic reticulum leak alters [Ca[2+]]i distribution in human iPSC-derived cardiomyocytes. | Presenilin-1 ΔE9 mutation associated sarcoplasmic reticulum leak alters [Ca(2+)](i) distribution in human iPSC-derived cardiomyocytes.
Naumenko N, Koivumäki JT, Lunko O, Tuomainen T, Leigh R, Rabiee M, Laurila J, Oksanen M, Lehtonen S, Koistinaho J, Tavi P. | 07/22/2024 |
| Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications. | Presenilin Gene Mutation-associated Psychosis: Phenotypic Characteristics and Clinical Implications.
Colijn MA, Ismail Z. | 06/27/2024 |
| Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage. | Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Joseph-Mathurin N, Feldman RL, Lu R, Shirzadi Z, Toomer C, Saint Clair JR, Ma Y, McKay NS, Strain JF, Kilgore C, Friedrichsen KA, Chen CD, Gordon BA, Chen G, Hornbeck RC, Massoumzadeh P, McCullough AA, Wang Q, Li Y, Wang G, Keefe SJ, Schultz SA, Cruchaga C, Preboske GM, Jack CR Jr, Llibre-Guerra JJ, Allegri RF, Ances BM, Berman SB, Brooks WS, Cash DM, Day GS, Fox NC, Fulham M, Ghetti B, Johnson KA, Jucker M, Klunk WE, la Fougère C, Levin J, Niimi Y, Oh H, Perrin RJ, Reischl G, Ringman JM, Saykin AJ, Schofield PR, Su Y, Supnet-Bell C, Vöglein J, Yakushev I, Brickman AM, Morris JC, McDade E, Xiong C, Bateman RJ, Chhatwal JP, Benzinger TLS, Dominantly Inherited Alzheimer Network., Free PMC Article | 04/30/2024 |
| Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development. | Cerebral organoids derived from patients with Alzheimer's disease with PSEN1/2 mutations have defective tissue patterning and altered development.
Vanova T, Sedmik J, Raska J, Amruz Cerna K, Taus P, Pospisilova V, Nezvedova M, Fedorova V, Kadakova S, Klimova H, Capandova M, Orviska P, Fojtik P, Bartova S, Plevova K, Spacil Z, Hribkova H, Bohaciakova D. | 04/12/2024 |
| Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings. | Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings.
Hata Y, Nakase M, Ichimata S, Yoshida K, Nishida N., Free PMC Article | 03/19/2024 |
| Age of onset predicted by Abeta profiling in a novel PSEN1 (I180F) mutation. | Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation.
Robbie L, Fernández SG, Montoya L, Sagare A, Barrera L, Sheikh-Bahaei N, Gutierrez LC, Ringman JM. | 01/26/2024 |
| Potential Modifying Effect of the APOEepsilon4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population. | Potential Modifying Effect of the APOEε4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population.
Valdez-Gaxiola CA, Maciel-Cruz EJ, Hernández-Peña R, Dumois-Petersen S, Rosales-Leycegui F, Gallegos-Arreola MP, Moreno-Ortiz JM, Figuera LE., Free PMC Article | 11/16/2023 |
| Presenilin-1, mutated in familial Alzheimer's disease, maintains genome stability via a gamma-secretase dependent way. | Presenilin-1, mutated in familial Alzheimer's disease, maintains genome stability via a γ-secretase dependent way.
Guo X, Jiang M, Dai X, Shen J, Wang X. | 10/24/2023 |
| Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred. | Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.
Cochran JN, Acosta-Uribe J, Esposito BT, Madrigal L, Aguillón D, Giraldo MM, Taylor JW, Bradley J, Fulton-Howard B, Andrews SJ, Acosta-Baena N, Alzate D, Garcia GP, Piedrahita F, Lopez HE, Anderson AG, Rodriguez-Nunez I, Roberts K, Dominantly Inherited Alzheimer Network, Absher D, Myers RM, Beecham GW, Reitz C, Rizzardi LF, Fernandez MV, Goate AM, Cruchaga C, Renton AE, Lopera F, Kosik KS., Free PMC Article | 09/15/2023 |
| Neurophysiological alterations in mice and humans carrying mutations in APP and PSEN1 genes. | Neurophysiological alterations in mice and humans carrying mutations in APP and PSEN1 genes.
van Heusden FC, van Nifterick AM, Souza BC, França ASC, Nauta IM, Stam CJ, Scheltens P, Smit AB, Gouw AA, van Kesteren RE., Free PMC Article | 08/30/2023 |
| Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal-dominant Alzheimer's disease. | Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal-dominant Alzheimer's disease.
Schultz SA, Shirzadi Z, Schultz AP, Liu L, Fitzpatrick CD, McDade E, Barthelemy NR, Renton A, Esposito B, Joseph-Mathurin N, Cruchaga C, Chen CD, Goate A, Allegri RF, Benzinger TLS, Berman S, Chui HC, Fagan AM, Farlow MR, Fox NC, Gordon BA, Day GS, Graff-Radford NR, Hassenstab JJ, Hanseeuw BJ, Hofmann A, Jack CR Jr, Jucker M, Karch CM, Koeppe RA, Lee JH, Levey AI, Levin J, Martins RN, Mori H, Morris JC, Noble J, Perrin RJ, Rosa-Neto P, Salloway SP, Sanchez-Valle R, Schofield PR, Xiong C, Johnson KA, Bateman RJ, Sperling RA, Chhatwal JP, Dominantly Inherited Alzheimer Network Investigators., Free PMC Article | 08/10/2023 |
| Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology. | Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology.
Gomez-Sequeda N, Mendivil-Perez M, Jimenez-Del-Rio M, Lopera F, Velez-Pardo C., Free PMC Article | 08/10/2023 |
| Familial Alzheimer's disease-associated PSEN1 mutations affect neurodevelopment through increased Notch signaling. | Familial Alzheimer's disease-associated PSEN1 mutations affect neurodevelopment through increased Notch signaling.
Hurley EM, Mozolewski P, Dobrowolski R, Hsieh J., Free PMC Article | 07/20/2023 |
| PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity. | PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.
Hebestreit S, Schwahn J, Sandikci V, Maros ME, Valkadinov I, Yilmaz R, Eckrich L, Loghmani SB, Lesch H, Conrad J, Wenz H, Ebert A, Brenner D, Weishaupt JH., Free PMC Article | 07/10/2023 |
| Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China. | Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China.
Zhou J, Chen Y, Meng F, Zhang K, Liu X, Peng G. | 06/15/2023 |
| Different transmembrane domains determine the specificity and efficiency of the cleavage activity of the gamma-secretase subunit presenilin. | Different transmembrane domains determine the specificity and efficiency of the cleavage activity of the γ-secretase subunit presenilin.
Schmidt FC, Fitz K, Feilen LP, Okochi M, Steiner H, Langosch D., Free PMC Article | 06/1/2023 |
| Epithelial presenilin-1 drives colorectal tumour growth by controlling EGFR-COX2 signalling. | Epithelial presenilin-1 drives colorectal tumour growth by controlling EGFR-COX2 signalling.
Gamez-Belmonte R, Mahapatro M, Erkert L, Gonzalez-Acera M, Naschberger E, Yu Y, Tena-Garitaonaindia M, Patankar JV, Wagner Y, Podstawa E, Schödel L, Bubeck M, Neurath MF, Stürzl M, Becker C. | 05/10/2023 |
| Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer's Disease in Korea. | Identification of the Third Case of PSEN1 Tyr389His Variant in Early-Onset Alzheimer's Disease in Korea.
Shim KH, Kang S, An SSA, Kang MJ., Free PMC Article | 03/3/2023 |
| The transcriptomic landscape of neurons carrying PSEN1 mutations reveals changes in extracellular matrix components and non-coding gene expression. | The transcriptomic landscape of neurons carrying PSEN1 mutations reveals changes in extracellular matrix components and non-coding gene expression.
Corsi GI, Gadekar VP, Haukedal H, Doncheva NT, Anthon C, Ambardar S, Palakodeti D, Hyttel P, Freude K, Seemann SE, Gorodkin J. | 02/22/2023 |
| Effects of presenilin-1 familial Alzheimer's disease mutations on gamma-secretase activation for cleavage of amyloid precursor protein. | Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein.
Do HN, Devkota S, Bhattarai A, Wolfe MS, Miao Y., Free PMC Article | 02/16/2023 |
| Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease. | Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
Course MM, Gudsnuk K, Keene CD, Bird TD, Jayadev S, Valdmanis PN., Free PMC Article | 02/16/2023 |
| Presenilin 1 Modulates Acetylcholinesterase Trafficking and Maturation. | Presenilin 1 Modulates Acetylcholinesterase Trafficking and Maturation.
Cortés-Gómez MÁ, Barberá VM, Alom J, Sáez-Valero J, García-Ayllón MS., Free PMC Article | 01/28/2023 |