Publications:

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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: ADAM10: 510G>T; Gln170His

PubMed Link: 35260199

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• Main text
• 13073_2022_Article_1035.pdf

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Genomics and Functional Genomics of Alzheimer's Disease.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Kamboh, M Ilyas MI

Publication Date: 2022-01

Variant appearance in text: ADAM10: Gln170His

PubMed Link: 34935119

Variant Present in the following documents:

• Main text
• 13311_2021_Article_1152.pdf

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Sulfuretin exerts diversified functions in the processing of amyloid precursor protein.

Genes & Diseases

Chen, Jian J; Luo, Biao B; Zhong, Bi-Rou BR; Li, Kun-Yi KY; Wen, Qi-Xin QX; Song, Li L; Xiang, Xiao-Jiao XJ; Zhou, Gui-Feng GF; Hu, Li-Tian LT; Deng, Xiao-Juan XJ; Ma, Yuan-Lin YL; Chen, Guo-Jun GJ

Publication Date: 2021-11

Variant appearance in text: ADAM10: Q170H

PubMed Link: 34522714

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• Main text
• main.pdf

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α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease.

Alzheimer'S Research & Therapy

Agüero, Pablo P; Sainz, María José MJ; García-Ayllón, María-Salud MS; Sáez-Valero, Javier J; Téllez, Raquel R; Guerrero-López, Rosa R; Pérez-Pérez, Julián J; Jiménez-Escrig, Adriano A; Gómez-Tortosa, Estrella E

Publication Date: 2020-10-31

Variant appearance in text: ADAM10: Q170H

PubMed Link: 33129344

Variant Present in the following documents:

• Main text
• 13195_2020_Article_708.pdf

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Substrate-Specific Activation of α-Secretase by 7-Deoxy-Trans-Dihydronarciclasine Increases Non-Amyloidogenic Processing of β-Amyloid Protein Precursor.

Molecules (Basel, Switzerland)

Chun, Yoon Sun YS; Cho, Yoon Young YY; Kwon, Oh Hoon OH; Zhao, Dong D; Yang, Hyun Ok HO; Chung, Sungkwon S

Publication Date: 2020-02-03

Variant appearance in text: ADAM10: Q170H

PubMed Link: 32028607

Variant Present in the following documents:

• Main text
• molecules-25-00646.pdf

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Protein-protein interactions underlying the behavioral and psychological symptoms of dementia (BPSD) and Alzheimer's disease.

Plos One

Mao, Yimin Y; Fisher, Daniel W DW; Yang, Shuxing S; Keszycki, Rachel M RM; Dong, Hongxin H

Publication Date: 2020

Variant appearance in text: ADAM10: Q170H

PubMed Link: 31951614

Variant Present in the following documents:

• pone.0226021.s001.xlsx, sheet 1

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Domain integration of ADAM family proteins: Emerging themes from structural studies.

Experimental Biology And Medicine (Maywood, N.J.)

Seegar, Tom Cm TC; Blacklow, Stephen C SC

Publication Date: 2019-12

Variant appearance in text: ADAM10: Q170H

PubMed Link: 31333048

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• Main text

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Proteolytic shedding of the prion protein via activation of metallopeptidase ADAM10 reduces cellular binding and toxicity of amyloid-β oligomers.

The Journal Of Biological Chemistry

Jarosz-Griffiths, Heledd H HH; Corbett, Nicola J NJ; Rowland, Helen A HA; Fisher, Kate K; Jones, Alys C AC; Baron, Jennifer J; Howell, Gareth J GJ; Cowley, Sally A SA; Chintawar, Satyan S; Cader, M Zameel MZ; Kellett, Katherine A B KAB; Hooper, Nigel M NM

Publication Date: 2019-04-26

Variant appearance in text: ADAM10: Q170H

PubMed Link: 30872401

Variant Present in the following documents:

• Main text
• zbc7085.pdf

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: ADAM10: Q170H

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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Clearance of cerebral Aβ in Alzheimer's disease: reassessing the role of microglia and monocytes.

Cellular And Molecular Life Sciences : Cmls

Zuroff, Leah L; Daley, David D; Black, Keith L KL; Koronyo-Hamaoui, Maya M

Publication Date: 2017-06

Variant appearance in text: ADAM10: Q170H

PubMed Link: 28197669

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• Main text

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Modeling Alzheimer's Disease with Induced Pluripotent Stem Cells: Current Challenges and Future Concerns.

Stem Cells International

Zhang, Weiwei W; Jiao, Bin B; Zhou, Miaojin M; Zhou, Tao T; Shen, Lu L

Publication Date: 2016

Variant appearance in text: ADAM10: Q170H

PubMed Link: 27313629

Variant Present in the following documents:

• Main text

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Genes associated with Alzheimer's disease: an overview and current status.

Clinical Interventions In Aging

Giri, Mohan M; Zhang, Man M; Lü, Yang Y

Publication Date: 2016

Variant appearance in text: ADAM10: Q170H

PubMed Link: 27274215

Variant Present in the following documents:

• Main text

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Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.

Plos One

Pan, Qiong Q; Hu, Hao H; Han, Liangrong L; Jing, Xin X; Liu, Hailiang H; Yang, Chuanchun C; Zhang, Fengting F; Hu, Yue Y; Yue, Hongni H; Ning, Ying Y

Publication Date: 2016

Variant appearance in text: ADAM10: Q170H

PubMed Link: 27218255

Variant Present in the following documents:

• Main text
• pone.0154574.pdf

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Monoaminergic neuropathology in Alzheimer's disease.

Progress In Neurobiology

Šimić, Goran G; Babić Leko, Mirjana M; Wray, Selina S; Harrington, Charles R CR; Delalle, Ivana I; Jovanov-Milošević, Nataša N; Bažadona, Danira D; Buée, Luc L; de Silva, Rohan R; Di Giovanni, Giuseppe G; Wischik, Claude M CM; Hof, Patrick R PR

Publication Date: 2017-04

Variant appearance in text: ADAM10: Gln170His

PubMed Link: 27084356

Variant Present in the following documents:

• Main text

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The IgLON Family Member Negr1 Promotes Neuronal Arborization Acting as Soluble Factor via FGFR2.

Frontiers In Molecular Neuroscience

Pischedda, Francesca F; Piccoli, Giovanni G

Publication Date: 2015

Variant appearance in text: ADAM10: Q170H

PubMed Link: 26793057

Variant Present in the following documents:

• Main text
• fnmol-08-00089.pdf

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Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Frontiers In Cellular Neuroscience

Calero, Miguel M; Gómez-Ramos, Alberto A; Calero, Olga O; Soriano, Eduardo E; Avila, Jesús J; Medina, Miguel M

Publication Date: 2015

Variant appearance in text: ADAM10: Q170H

PubMed Link: 25914626

Variant Present in the following documents:

• Main text
• fncel-09-00138.pdf

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Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.

Expert Review Of Molecular Diagnostics

Reitz, Christiane C

Publication Date: 2015-03

Variant appearance in text: ADAM10: Q170H

PubMed Link: 25634383

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• Main text

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Identification of rare variants in Alzheimer's disease.

Frontiers In Genetics

Lord, Jenny J; Lu, Alexander J AJ; Cruchaga, Carlos C

Publication Date: 2014

Variant appearance in text: ADAM10: Q170H

PubMed Link: 25389433

Variant Present in the following documents:

• Main text
• fgene-05-00369.pdf

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Alzheimer's disease genetics: from the bench to the clinic.

Neuron

Karch, Celeste M CM; Cruchaga, Carlos C; Goate, Alison M AM

Publication Date: 2014-07-02

Variant appearance in text: ADAM10: Q170H

PubMed Link: 24991952

Variant Present in the following documents:

• Main text

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Clinical genetics of Alzheimer's disease.

Biomed Research International

Zou, Zhangyu Z; Liu, Changyun C; Che, Chunhui C; Huang, Huapin H

Publication Date: 2014

Variant appearance in text: ADAM10: Q170H

PubMed Link: 24955352

Variant Present in the following documents:

• Main text
• BMRI2014-291862.pdf

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Alzheimer's disease risk genes and mechanisms of disease pathogenesis.

Biological Psychiatry

Karch, Celeste M CM; Goate, Alison M AM

Publication Date: 2015-01-01

Variant appearance in text: ADAM10: Q170H

PubMed Link: 24951455

Variant Present in the following documents:

• Main text

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ADAM10 prodomain mutations cause late-onset Alzheimer's disease: not just the latest FAD.

Neuron

Vassar, Robert R

Publication Date: 2013-10-16

Variant appearance in text: ADAM10: Q170H

PubMed Link: 24139026

Variant Present in the following documents:

• Main text

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ADAM10 missense mutations potentiate β-amyloid accumulation by impairing prodomain chaperone function.

Neuron

Suh, Jaehong J; Choi, Se Hoon SH; Romano, Donna M DM; Gannon, Moira A MA; Lesinski, Andrea N AN; Kim, Doo Yeon DY; Tanzi, Rudolph E RE

Publication Date: 2013-10-16

Variant appearance in text: ADAM10: Q170H

PubMed Link: 24055016

Variant Present in the following documents:

• Main text

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The genetics of Alzheimer disease.

Cold Spring Harbor Perspectives In Medicine

Tanzi, Rudolph E RE

Publication Date: 2012-10-01

Variant appearance in text: ADAM10: Q170H

PubMed Link: 23028126

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• Main text

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Amyloid precursor protein (APP) processing genes and cerebrospinal fluid APP cleavage product levels in Alzheimer's disease.

Neurobiology Of Aging

Bekris, L M LM; Galloway, N M NM; Millard, S S; Lockhart, D D; Li, G G; Galasko, D R DR; Farlow, M R MR; Clark, C M CM; Quinn, J F JF; Kaye, J A JA; Schellenberg, G D GD; Leverenz, J B JB; Seubert, P P; Tsuang, D W DW; Peskind, E R ER; Yu, C E CE

Publication Date: 2011-03

Variant appearance in text: ADAM10: Q170H

PubMed Link: 21196064

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Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration.

International Journal Of Clinical And Experimental Medicine

Galimberti, Daniela D; Scarpini, Elio E

Publication Date: 2010-05-15

Variant appearance in text: ADAM10: Q170H

PubMed Link: 20607039

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• Main text

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The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.

Neurobiology Of Aging

Guerreiro, Rita J RJ; Gustafson, Deborah R DR; Hardy, John J

Publication Date: 2012-03

Variant appearance in text: ADAM10: Q170H

PubMed Link: 20594621

Variant Present in the following documents:

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Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease.

Neurobiology Of Aging

Cai, Guiqing G; Atzmon, Gil G; Naj, Adam C AC; Beecham, Gary W GW; Barzilai, Nir N; Haines, Jonathan L JL; Sano, Mary M; Pericak-Vance, Margaret M; Buxbaum, Joseph D JD

Publication Date: 2012-02

Variant appearance in text: ADAM10: Q170H

PubMed Link: 20381196

Variant Present in the following documents:

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Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity.

Human Molecular Genetics

Kim, Minji M; Suh, Jaehong J; Romano, Donna D; Truong, Mimy H MH; Mullin, Kristina K; Hooli, Basavaraj B; Norton, David D; Tesco, Giuseppina G; Elliott, Kathy K; Wagner, Steven L SL; Moir, Robert D RD; Becker, K David KD; Tanzi, Rudolph E RE

Publication Date: 2009-10-15

Variant appearance in text: ADAM10: Q170H

PubMed Link: 19608551

Variant Present in the following documents:

• Main text

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