Alzheimer’s-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions
Szaruga, Maria, Munteanu, Bogdan, Lismont, Sam, Veugelen, Sarah, Horré, Katrien, Mercken, Marc, Saido, Takaomi C., Ryan, Natalie S. +9 more·2017·Cell
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- Autosomal Dominant Alzheimer’s Disease Mutations in Human Microglia Are Not Sufficient to Trigger Amyloid Pathology in WT Mice but Might Affect Pathology in 5XFAD MiceCarmen Romero‐Molina, Sarah M. Neuner, Marcelina Ryszawiec, Alice Pébay, Dominantly Inherited Alzheimer Network, Edoardo M. Marcora, Alison Goate · 2024 · International Journal of Molecular Sciences
- Not all plaques are created equal: Uncovering a unique molecular signature in Alzheimer’s diseaseKristján Holt, Emily Payne, Tara L. Spires‐Jones · 2024 · Brain and Neuroscience Advances
- Mutations in PSEN1 predispose inflammation in an astrocyte model of familial Alzheimer’s disease through disrupted regulated intramembrane proteolysisOliver Jonathan Ziff, Sarah Jolly, Jackie M. Casey, Lucy Granat, Satinder K. Samra, Núria Setó‐Salvia, Argyro Alatza, Leela Phadke, Benjamin Galet, Philippe Ravassard et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- Amyloid neuropathy, tauopathy, decreased cholinergic and dopaminergic neurons, long-term memory and motor deficits, and sleep disturbance in motopsin deficient miceFumiaki Yokoi, Yuuna Tanaka, Akari Sakai, Nao Isogai, Shiori Miyata, Shinichi Mitsui · 2025 · GeroScience
- Pharmacology of nivegacetor (RG6289), a potent and selective gamma secretase modulator in clinical development for the treatment of Alzheimer’s diseaseLothar Lindemann, Julie Lambotte, Judith Rothe, Jürg Messer, Catherine Diener, Solen Pichereau, Carina Cantrill, Thomas Mueggler, Michael Honer, Jennifer Beck et al. · 2026 · Frontiers in Pharmacology
- From mechanism to substratome: Unraveling mysteries of γ-secretaseHarald Steiner, Stephan Breimann, Frits Kamp, Dmitrij Frishman · 2026 · Journal of Biological Chemistry
- A Survey of Genetic Risk Factors for Alzheimer’s DiseaseAanya Kamath · 2023 · Journal of Student Research
- Dissecting Conformational Changes in APP’s Transmembrane Domain Linked to ε-Efficiency in Familial Alzheimer’s DiseaseAlexander Götz, Christina Scharnagl · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
- Structural Modeling of γ -Secretase A β n Complex Formation and Substrate ProcessingManuel Hitzenberger, Martin Zacharias · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
- Dimeric Transmembrane Orientations of APP/C99 Regulate γ-Secretase Processing Line Impacting Signaling and OligomerizationFlorian Perrin, Nicolas Papadopoulos, Rémi Opsomer, Devkee M. Vadukul, Céline Vrancx, Nathalie Pierrot, Steven O. Smith, Didier Vertommen, Pascal Kienlen‐Campard, Stefan N. Constantinescu · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Plasma Aβ ratios in autosomal dominant Alzheimer’s disease: the influence of genotypeAntoinette O’Connor, Josef Pannee, Teresa Poole, Charles Arber, Erik Portelius, Imogen J. Swift, Amanda Heslegrave, Emily Abel, Nanet Willumsen, Helen Rice et al. · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
- Inhibitory proteins block substrate access by occupying the active site cleft of Bacillus subtilis intramembrane protease SpoIVFBSandra Olenic, Lim Heo, Michael Feig, Lee Kroos · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
- Alzheimer mutations stabilize synaptotoxic γ-secretase-substrate complexesSujan Devkota, Rui Zhou, Vaishnavi Nagarajan, Masato Maesako, Hung Nguyen Do, Arshad Ali Noorani, Caitlin Overmeyer, Sanjay Bhattarai, Justin T. Douglas, Anita Saraf et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Mitochondrial Dynamics and Bioenergetics in iPSC-Derived Neurons with Familial Alzheimer’s Disease MutationsCourtney MacMullen, Neelam Sharma, Ronald L. Davis · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- Taking a position on intramembrane proteolysisM. Joanne Lemieux · 2018 · Journal of Biological Chemistry
- Exploring the origins of nucleationKatarzyna Marta Zoltowska, Lucía Chávez‐Gutiérrez · 2021 · eLife
- Membrane compartmentalization by adherens junctions creates a spatial switch for Notch signaling and functionMinsuk Kwak, Kaden M. Southard, Woon Ryoung Kim, Annie Lin, Nam Hyeong Kim, Ramu Gopalappa, Minji An, Hyun Jung Lee, Seo Hyun Choi, Justin Farlow et al. · 2021 · Research Square
- Characterisation of the ghrelinergic system in human models of neurodegenerative diseasesMaria Carla Carisi · 2021
- Active site geometry stabilization of a presenilin homolog by the lipid bilayer promotes intramembrane proteolysisLukas P. Feilen, Shuyu Chen, Akio Fukumori, Regina Feederle, Martin Zacharias, Harald Steiner · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Psychiatric Disorders in DementiaYannick Vermeiren, Debby Van Dam, Maartje de Vries, Peter Paul De Deyn · 2020 · Springer eBooks
- Finding Cures for Alzheimer's DiseaseXianhai Huang, Robert G. Aslanian · 2022 · Wiley eBooks
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- APP substrate ectodomain defines Aβ length by restraining γ-secretase processivity and facilitating product releaseMatthias K. Koch, Thomas Enzlein, Shuyu Chen, Dieter Petit, Sam Lismont, Martin Zacharias, Carsten Hopf, Lucía Chávez‐Gutiérrez · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Alzheimer’s disease linked Aβ42 exerts product feedback inhibition on γ-secretase impairing downstream cell signalingKatarzyna Marta Zoltowska, Utpal Das, Sam Lismont, Thomas Enzlein, Masato Maesako, CQ Houser Mei, María Luisa Franco, Diana Gomes Moreira, Dmitry Karachentsev, Ann Becker et al. · 2023 · eLife
- Resistance to PSEN1-selective γ-secretase inhibitors in T-cell acute lymphoblastic leukemiaCharlien Vandersmissen, Sofie Demeyer, Kris Jacobs, Lien Boogaerts, Sara Gutiérrez Fernández, Heidi Segers, Lucía Chávez‐Gutiérrez, Jan Cools · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
- Alzheimer’s disease linked Aβ42 exerts product feedback inhibition on γ-secretase impairing downstream cell signalingKatarzyna Marta Zoltowska, Utpal Das, Sam Lismont, Thomas Enzlein, Masato Maesako, Mei CQ Houser, María Luisa Franco, Burcu Özcan, Diana Gomes Moreira, Dmitry Karachentsev et al. · 2024 · eLife
- Alzheimer’s disease linked Aβ42 exerts product feedback inhibition on γ-secretase impairing downstream cell signalingKatarzyna Marta Zoltowska, Utpal Das, Sam Lismont, Thomas Enzlein, Masato Maesako, Mei CQ Houser, María Luisa Franco, Burcu Özcan, Diana Gomes Moreira, Dmitry Karachentsev et al. · 2024 · eLife
- Application of genome editing to the treatment of familial ADTakaomi C. Saido · 2024 · Elsevier eBooks
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- Down Syndrome: Progress in Defining Pathogenesis and Treatments for Neurodevelopmental Deficits and Alzheimer’s DiseaseRenata Bartesaghi, Xu‐Qiao Chen, Aaron D. Johnstone, Utpal Das, William Cary Mobley · 2025 · Springer eBooks
- Co-occurrence of primary familial brain calcification from a likely pathogenic SLC20A2 variant and Alzheimer’s disease biologyHyuk-je Lee, Sang‐Won Yoo, Myungshin Kim, Hoon Seok Kim, Joong‐Seok Kim · 2025 · Neurocase
- Kat5 cKO Biological Domain Signatures Align with Human Alzheimer’s DiseaseGregory A. Cary, Jessica E. Young, Shannon E. Rose, Harald Frankowski, Martin Darvas, Mark Bothwell, Suman Jayadev, Aquene N. Reid, Anna K. Greenwood, Allan I. Levey et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
- The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer’s diseaseInmaculada Sanjuan-Ruiz, Lutgarde Serneels, Katleen Craessaerts, Alison Goate, Wim G. Annaert, Lucía Chávez‐Gutiérrez, Yonggang Shi, Nasim Sheikh‐Bahaei, Joanna C. Jen, Eliana Marisa Ramos et al. · 2025 · Molecular Neurodegeneration Advances
- The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer’s diseaseKatarzyna Marta Zoltowska, Julia Bandera, Mohamed Belal Hamed, Thomas Enzlein, Carsten Hopf, Natalie Sarah Ryan, Lucía Chávez‐Gutiérrez · 2025 · Alzheimer s Research & Therapy
- In Silico Phosphoproteomic Analysis Reveals Divergent Regulation of Presenilin 1 and Presenilin 2Sadia Begum, Javier de Andrés Álvarez, Claudia Manzoni, Charles Arber, Patrick Alfryn Lewis · 2026 · NeuroMolecular Medicine
- Correlations of 276 missense variants of PSEN1, PSEN2 , and APP on the production of Aβ peptides against variant effect predictors and biophysical structuresJ. J. Song, Serina Yan, Sophia Liu, Adhvaith Sridhar, Kijung Sung, Joshua P. Pillai, Chengbiao Wu · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
- Les APP-CTFs au cœur du processus pathologique de la maladie d’Alzheimer : contribution du système lysosomal-autophagique et de la sécrétion exosomaleAnaïs Bécot · 2019 · theses.fr (ABES)
- Influences biochimiques, anatomiques et cognitives de la troncation exopeptidasique N-terminale du peptide AβAudrey Valverde · 2020 · theses.fr (ABES)
- Synaptic plasticity in a memory circuit : physiological and pathophysiological role of the amyloid precursor proteinAna Moreira-de-Sá · 2024 · theses.fr (ABES)
- Membrane protein folding, misfolding, and quality controlEojin Kim, Seoyoon Kim, Minseung Kim, Duyoung Min · 2026 · Elsevier eBooks
- Comparative performance of semi-quantitative methods for amyloid deposition in preclinical autosomal dominant Alzheimer’s diseaseZhi Zhou, Jin Gao, Qi Wang, Qigeng Wang, Lu Liu, Xiaojun Zhang, Can Li, Jiajin Liu, Yidan Wei, Shixiang Zhang et al. · 2026 · Alzheimer s Research & Therapy
- Kat5 cKO mouse replicates biological domain signatures associated with Alzheimer's diseaseGregory A. Cary, Jessica E. Young, Shannon E. Rose, Harald Frankowski, Heather Wilkins, Sai Sruthi Amirtha Ganesh, Julia M. Draper, Martin Darvas, Mark Bothwell, Suman Jayadev et al. · 2026 · Alzheimer s & Dementia
- Genetic and structural characterisation of alzheimer’s disease associated variants in an Eastern Indian cohortDipanwita Sadhukhan, Adreesh Mukherjee, Izaz Monir Kamal, Shreyosi Maitra, Brahmachari Somnath Vedeshachaitanya, Bidisha Bhattacharyya, Atanu Biswas, Saikat Chakrabarti, Arindam Biswas · 2026 · Metabolic Brain Disease
- Neuroinflammatory and molecular pathways in Alzheimer’s disease: mechanistic crosstalk and emerging therapeutic opportunitiesAbhay Thakur, Rohit R. Sharma, Sneha Kumari, Dev Prakash, A Sanjana Devi · 2026 · Inflammopharmacology
- Correlations of PSEN1 , PSEN2 , and APP missense variants on the production of Aβ peptides against variant effect predictionJ. J. Song, Serina Yan, Sophia Liu, Adhvaith Sridhar, Kijung Sung, Joshua Pillai, Chengbiao Wu · 2026 · Alzheimer s & Dementia Translational Research & Clinical Interventions
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