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: APP: 2077G>C; Glu693Gln
Amyloid beta accumulations and enhanced neuronal differentiation in cerebral organoids of Dutch-type cerebral amyloid angiopathy patients.
Frontiers In Aging Neuroscience
Daoutsali, Elena E; Pepers, Barry A BA; Stamatakis, Stavros S; van der Graaf, Linda M LM; Terwindt, Gisela M GM; Parfitt, David A DA; Buijsen, Ronald A M RAM; van Roon-Mom, Willeke M C WMC
Decreased ratios of matrix metalloproteinases to tissue-type inhibitors in cerebrospinal fluid in sporadic and hereditary cerebral amyloid angiopathy.
Alzheimer'S Research & Therapy
Vervuurt, Marc M; de Kort, Anna M AM; Jäkel, Lieke L; Kersten, Iris I; Abdo, Wilson F WF; Schreuder, Floris H B M FHBM; Rasing, Ingeborg I; Terwindt, Gisela M GM; Wermer, Marieke J H MJH; Greenberg, Steven M SM; Klijn, Catharina J M CJM; Kuiperij, H Bea HB; Verbeek, Marcel M MM
Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.
Proteomic profiling in cerebral amyloid angiopathy reveals an overlap with CADASIL highlighting accumulation of HTRA1 and its substrates.
Acta Neuropathologica Communications
Zellner, Andreas A; Müller, Stephan A SA; Lindner, Barbara B; Beaufort, Nathalie N; Rozemuller, Annemieke J M AJM; Arzberger, Thomas T; Gassen, Nils C NC; Lichtenthaler, Stefan F SF; Kuster, Bernhard B; Haffner, Christof C; Dichgans, Martin M
Proteomic profiling in cerebral amyloid angiopathy reveals an overlap with CADASIL highlighting accumulation of HTRA1 and its substrates.
Acta Neuropathologica Communications
Zellner, Andreas A; Müller, Stephan A SA; Lindner, Barbara B; Beaufort, Nathalie N; Rozemuller, Annemieke J M AJM; Arzberger, Thomas T; Gassen, Nils C NC; Lichtenthaler, Stefan F SF; Kuster, Bernhard B; Haffner, Christof C; Dichgans, Martin M
Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor.
Biomedicines
Abondio, Paolo P; Sarno, Stefania S; Giuliani, Cristina C; Laganà, Valentina V; Maletta, Raffaele R; Bernardi, Livia L; Bruno, Francesco F; Colao, Rosanna R; Puccio, Gianfranco G; Frangipane, Francesca F; Borroni, Barbara B; Van Broeckhoven, Christine C; Luiselli, Donata D; Bruni, Amalia A
Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor.
Biomedicines
Abondio, Paolo P; Sarno, Stefania S; Giuliani, Cristina C; Laganà, Valentina V; Maletta, Raffaele R; Bernardi, Livia L; Bruno, Francesco F; Colao, Rosanna R; Puccio, Gianfranco G; Frangipane, Francesca F; Borroni, Barbara B; Van Broeckhoven, Christine C; Luiselli, Donata D; Bruni, Amalia A
The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer's Disease.
Journal Of Clinical Medicine
Rujeedawa, Tanzil T; Carrillo Félez, Eva E; Clare, Isabel C H ICH; Fortea, Juan J; Strydom, Andre A; Rebillat, Anne-Sophie AS; Coppus, Antonia A; Levin, Johannes J; Zaman, Shahid H SH
Sex differences in a murine model of Cerebral Amyloid Angiopathy.
Brain, Behavior, & Immunity - Health
Maniskas, Michael E ME; Mack, Alexis F AF; Morales-Scheihing, Diego D; Finger, Carson C; Zhu, Liang L; Paulter, Robia R; Urayama, Akihiko A; McCullough, Louise D LD; Manwani, Bharti B
MFG-E8 (LACTADHERIN): a novel marker associated with cerebral amyloid angiopathy.
Acta Neuropathologica Communications
Marazuela, Paula P; Solé, Montse M; Bonaterra-Pastra, Anna A; Pizarro, Jesús J; Camacho, Jessica J; Martínez-Sáez, Elena E; Kuiperij, H Bea HB; Verbeek, Marcel M MM; de Kort, Anna M AM; Schreuder, Floris H B M FHBM; Klijn, Catharina J M CJM; Castillo-Ribelles, Laura L; Pancorbo, Olalla O; Rodríguez-Luna, David D; Pujadas, Francesc F; Delgado, Pilar P; Hernández-Guillamon, Mar M
Cerebral Amyloid Angiopathy in a Mouse Model of Alzheimer's Disease Associates with Upregulated Angiopoietin and Downregulated Hypoxia-Inducible Factor.
Journal Of Alzheimer'S Disease : Jad
Skaaraas, Gry H E Syverstad GHES; Melbye, Christoffer C; Puchades, Maja A MA; Leung, Doreen Siu Yi DSY; Jacobsen, Øyvind Ø; Rao, Shreyas B SB; Ottersen, Ole Petter OP; Leergaard, Trygve B TB; Torp, Reidun R
Dysregulated clock gene expression and abnormal diurnal regulation of hippocampal inhibitory transmission and spatial memory in amyloid precursor protein transgenic mice.
Neurobiology Of Disease
Fusilier, Allison R AR; Davis, Jennifer A JA; Paul, Jodi R JR; Yates, Stefani D SD; McMeekin, Laura J LJ; Goode, Lacy K LK; Mokashi, Mugdha V MV; Remiszewski, Natalie N; van Groen, Thomas T; Cowell, Rita M RM; McMahon, Lori L LL; Roberson, Erik D ED; Gamble, Karen L KL
In Vitro and In Vivo Efficacies of the Linear and the Cyclic Version of an All-d-Enantiomeric Peptide Developed for the Treatment of Alzheimer's Disease.
International Journal Of Molecular Sciences
Schemmert, Sarah S; Camargo, Luana Cristina LC; Honold, Dominik D; Gering, Ian I; Kutzsche, Janine J; Willuweit, Antje A; Willbold, Dieter D
Antisense Oligonucleotide-Induced Amyloid Precursor Protein Splicing Modulation as a Therapeutic Approach for Dutch-Type Cerebral Amyloid Angiopathy.
Nucleic Acid Therapeutics
Daoutsali, Elena E; Hailu, Tsinatkeab T TT; Buijsen, Ronald A M RAM; Pepers, Barry A BA; van der Graaf, Linda M LM; Verbeek, Marcel M MM; Curtis, Daniel D; de Vlaam, Thomas T; van Roon-Mom, Willeke M C WMC
Publication Date: 2021-10
Variant appearance in text: APP: 2077G>C; Glu693Gln
Plasma Amyloid-Beta Levels in a Pre-Symptomatic Dutch-Type Hereditary Cerebral Amyloid Angiopathy Pedigree: A Cross-Sectional and Longitudinal Investigation.
International Journal Of Molecular Sciences
Chatterjee, Pratishtha P; Tegg, Michelle M; Pedrini, Steve S; Fagan, Anne M AM; Xiong, Chengjie C; Singh, Abhay K AK; Taddei, Kevin K; Gardener, Samantha S; Masters, Colin L CL; Schofield, Peter R PR; Multhaup, Gerhard G; Benzinger, Tammie L S TLS; Morris, John C JC; Bateman, Randall J RJ; Greenberg, Steven M SM; van Buchem, Mark A MA; Stoops, Erik E; Vanderstichele, Hugo H; Teunissen, Charlotte E CE; Hankey, Graeme J GJ; Wermer, Marieke J H MJH; Sohrabi, Hamid R HR; Martins, Ralph N RN; The Dominantly Inherited Alzheimer Network,
The Neurovascular Unit Dysfunction in Alzheimer's Disease.
International Journal Of Molecular Sciences
Soto-Rojas, Luis O LO; Pacheco-Herrero, Mar M; Martínez-Gómez, Paola A PA; Campa-Córdoba, B Berenice BB; Apátiga-Pérez, Ricardo R; Villegas-Rojas, Marcos M MM; Harrington, Charles R CR; de la Cruz, Fidel F; Garcés-Ramírez, Linda L; Luna-Muñoz, José J
Longitudinal Accumulation of Cerebral Microhemorrhages in Dominantly Inherited Alzheimer Disease.
Neurology
Joseph-Mathurin, Nelly N; Wang, Guoqiao G; Kantarci, Kejal K; Jack, Clifford R CR; McDade, Eric E; Hassenstab, Jason J; Blazey, Tyler M TM; Gordon, Brian A BA; Su, Yi Y; Chen, Gengsheng G; Massoumzadeh, Parinaz P; Hornbeck, Russ C RC; Allegri, Ricardo F RF; Ances, Beau M BM; Berman, Sarah B SB; Brickman, Adam M AM; Brooks, William S WS; Cash, David M DM; Chhatwal, Jasmeer P JP; Chui, Helena C HC; Correia, Stephen S; Cruchaga, Carlos C; Farlow, Martin R MR; Fox, Nick C NC; Fulham, Michael M; Ghetti, Bernardino B; Graff-Radford, Neill R NR; Johnson, Keith A KA; Karch, Celeste M CM; Laske, Christoph C; Lee, Athene K W AKW; Levin, Johannes J; Masters, Colin L CL; Noble, James M JM; O'Connor, Antoinette A; Perrin, Richard J RJ; Preboske, Gregory M GM; Ringman, John M JM; Rowe, Christopher C CC; Salloway, Stephen S; Saykin, Andrew J AJ; Schofield, Peter R PR; Shimada, Hiroyuki H; Shoji, Mikio M; Suzuki, Kazushi K; Villemagne, Victor L VL; Xiong, Chengjie C; Yakushev, Igor I; Morris, John C JC; Bateman, Randall J RJ; Benzinger, Tammie L S TLS; ,
The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.
Plos One
Guyon, Antoine A; Rousseau, Joël J; Lamothe, Gabriel G; Tremblay, Jacques P JP
Chatterjee, Pratishtha P; Fagan, Anne M AM; Xiong, Chengjie C; McKay, Matthew M; Bhatnagar, Atul A; Wu, Yunqi Y; Singh, Abhay K AK; Taddei, Kevin K; Martins, Ian I; Gardener, Samantha L SL; Molloy, Mark P MP; Multhaup, Gerhard G; Masters, Colin L CL; Schofield, Peter R PR; Benzinger, Tammie L S TLS; Morris, John C JC; Bateman, Randall J RJ; Greenberg, Steven M SM; Wermer, Marieke J H MJH; van Buchem, Mark A MA; Sohrabi, Hamid R HR; Martins, Ralph N RN; ,
Potential caveats of putative microglia-specific markers for assessment of age-related cerebrovascular neuroinflammation.
Journal Of Neuroinflammation
Honarpisheh, Pedram P; Lee, Juneyoung J; Banerjee, Anik A; Blasco-Conesa, Maria P MP; Honarpisheh, Parisa P; d'Aigle, John J; Mamun, Abdullah A AA; Ritzel, Rodney M RM; Chauhan, Anjali A; Ganesh, Bhanu P BP; McCullough, Louise D LD
Familial Alzheimer's disease mutations at position 22 of the amyloid β-peptide sequence differentially affect synaptic loss, tau phosphorylation and neuronal cell death in an ex vivo system.
Plos One
Tackenberg, Christian C; Kulic, Luka L; Nitsch, Roger M RM
Systems-based proteomics to resolve the biology of Alzheimer's disease beyond amyloid and tau.
Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Rayaprolu, Sruti S; Higginbotham, Lenora L; Bagchi, Pritha P; Watson, Caroline M CM; Zhang, Tian T; Levey, Allan I AI; Rangaraju, Srikant S; Seyfried, Nicholas T NT
Discoidin Domain Receptor 1 is a therapeutic target for neurodegenerative diseases.
Human Molecular Genetics
Fowler, Alan J AJ; Hebron, Michaeline M; Balaraman, Kaluvu K; Shi, Wangke W; Missner, Alexander A AA; Greenzaid, Jonathan D JD; Chiu, Timothy L TL; Ullman, Clementina C; Weatherdon, Ethan E; Duka, Val V; Torres-Yaghi, Yasar Y; Pagan, Fernando L FL; Liu, Xiaoguang X; Ressom, Habtom H; Ahn, Jaeil J; Wolf, Christian C; Moussa, Charbel C