Publications:

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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: 781G>A; Val261Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience

Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ

Publication Date: 2022

Variant appearance in text: PSEN1: V261I

PubMed Link: 35959289

Variant Present in the following documents:

• Main text
• fnagi-14-860529.pdf

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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: PSEN1: Val261Ile

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1035.pdf

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A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Life (Basel, Switzerland)

Gaál, Zsolt Z; Szűcs, Zsuzsanna Z; Kántor, Irén I; Luczay, Andrea A; Tóth-Heyn, Péter P; Benn, Orsolya O; Felszeghy, Enikő E; Karádi, Zsuzsanna Z; Madar, László L; Balogh, István I

Publication Date: 2021-07-30

Variant appearance in text: PS1: 781G>A

PubMed Link: 34440516

Variant Present in the following documents:

• Main text
• life-11-00771.pdf

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A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Frontiers In Neuroscience

Yu, Allen Chi-Shing AC; Yim, Aldrin Kay-Yuen AK; Chan, Anne Yin-Yan AY; Yuen, Liz Y P LYP; Au, Wing Chi WC; Cheng, Timothy H T THT; Lin, Xiao X; Li, Jing-Woei JW; Chan, Larry W L LWL; Mok, Vincent C T VCT; Chan, Ting-Fung TF; Chan, Ho Yin Edwin HYE

Publication Date: 2019

Variant appearance in text: PSEN1: 781G>A

PubMed Link: 31920494

Variant Present in the following documents:

• Main text
• fnins-13-01324.pdf

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Amyloid and intracellular accumulation of BRI2.

Neurobiology Of Aging

Garringer, Holly J HJ; Sammeta, Neeraja N; Oblak, Adrian A; Ghetti, Bernardino B; Vidal, Ruben R

Publication Date: 2017-04

Variant appearance in text: PSEN1: V261I

PubMed Link: 28131015

Variant Present in the following documents:

• Main text

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Immunotherapy targeting pyroglutamate-3 Aβ: prospects and challenges.

Molecular Neurodegeneration

Cynis, Holger H; Frost, Jeffrey L JL; Crehan, Helen H; Lemere, Cynthia A CA

Publication Date: 2016-06-30

Variant appearance in text: PS1: V261I

PubMed Link: 27363697

Variant Present in the following documents:

• Main text
• 13024_2016_Article_115.pdf

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Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Current Neurology And Neuroscience Reports

Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,

Publication Date: 2014-11

Variant appearance in text: PSEN1: Val261Ile

PubMed Link: 25217249

Variant Present in the following documents:

• Main text

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Focusing the amyloid cascade hypothesis on N-truncated Abeta peptides as drug targets against Alzheimer's disease.

Acta Neuropathologica

Bayer, Thomas A TA; Wirths, Oliver O

Publication Date: 2014

Variant appearance in text: PS1: V261I

PubMed Link: 24803226

Variant Present in the following documents:

• Main text
• 401_2014_Article_1287.pdf

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Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.

American Journal Of Neurodegenerative Disease

Roher, Alex E AE; Maarouf, Chera L CL; Malek-Ahmadi, Michael M; Wilson, Jeffrey J; Kokjohn, Tyler A TA; Daugs, Ian D ID; Whiteside, Charisse M CM; Kalback, Walter M WM; Macias, Mimi P MP; Jacobson, Sandra A SA; Sabbagh, Marwan N MN; Ghetti, Bernardino B; Beach, Thomas G TG

Publication Date: 2013

Variant appearance in text: PSEN1: V261I

PubMed Link: 24093083

Variant Present in the following documents:

• Main text

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Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.

Molecular Neurodegeneration

Maarouf, Chera L CL; Daugs, Ian D ID; Spina, Salvatore S; Vidal, Ruben R; Kokjohn, Tyler A TA; Patton, R Lyle RL; Kalback, Walter M WM; Luehrs, Dean C DC; Walker, Douglas G DG; Castaño, Eduardo M EM; Beach, Thomas G TG; Ghetti, Bernardino B; Roher, Alex E AE

Publication Date: 2008-11-20

Variant appearance in text: PSEN1: V261I

PubMed Link: 19021905

Variant Present in the following documents:

• Main text
• 1750-1326-3-20.pdf

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