Concepedia

Psen2 Mutations

PSEN2 Mutations is a genetic alteration in the presenilin-2 gene (PSEN2) that disrupts gamma-secretase activity, leading to abnormal amyloid precursor protein processing and representing a rare autosomal dominant cause of early-onset familial Alzheimer's disease.

173

Publications

10.7K

Citations

1.4K

Authors

495

Institutions

Publications per year

2017–2026

77

Variants

Psen2 Variants

Parents

Publications

173

The role of presenilin cofactors in the γ-secretase complex

Nobumasa Takasugi, Taisuke Tomita, Ikuo Hayashi et al. · Nature · 2003 · 867 citations

, , +10

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Hélène-Marie Lanoiselée, Gaël Nicolas, David Wallon et al. · PLoS Medicine · 2017 · 609 citations · Full text

, , +17

White matter hyperintensities are a core feature of Alzheimer's disease: Evidence from the dominantly inherited Alzheimer network

Seonjoo Lee, Fawad Viqar, Molly E. Zimmerman et al. · Annals of Neurology · 2016 · 552 citations · Full text

, , +17

Alzheimer–associated presenilins 1 and 2 : Neuronal expression in brain and localization to intracellular membranes in mammalian cells

Dora M. Kovacs, Hillary J. Fausett, Keith J. Page et al. · Nature Medicine · 1996 · 552 citations

, , +16

A new amyloid β variant favoring oligomerization in Alzheimer's‐type dementia

Takami Tomiyama, Tetsu Nagata, Hiroyuki Shimada et al. · Annals of Neurology · 2008 · 424 citations

, , +17

1–5 of 173

Authors

1.4K

  1. ML
    Michael Lardelli

    The University of Adelaide, Australia

    13 publications · 491 citations

    12

    h-index

  2. MN
    Morgan Newman

    The University of Adelaide, Australia

    11 publications · 456 citations

    11

    h-index

  3. CC
    Carlos Cruchaga

    Washington University in St. Louis, United States

    11 publications · 469 citations

    11

    h-index

  4. AG
    Alison Goate

    Washington University in St. Louis, United States

    12 publications · 968 citations

    11

    h-index

  5. JC
    John C. Morris

    Washington University in St. Louis, United States

    10 publications · 1.1K citations

    10

    h-index

1–5 of 1.4K

Institutions

495

  1. Washington University in St. Louis

    St Louis, United States

    14 h-index

    158 publications

    11.5K citations

  2. Massachusetts General Hospital

    Boston, United States

    13 h-index

    32 publications

    8.2K citations

  3. The University of Adelaide

    Adelaide, Australia

    12 h-index

    45 publications

    1.6K citations

  4. Harvard University

    Cambridge, United States

    12 h-index

    26 publications

    1.7K citations

  5. Icahn School of Medicine at Mount Sinai

    New York, United States

    11 h-index

    30 publications

    2.9K citations

  6. University College London

    London, United Kingdom

    10 h-index

    43 publications

    3.4K citations

  7. Inserm

    Paris, France

    8 h-index

    117 publications

    19.2K citations

  8. Columbia University

    New York, United States

    8 h-index

    37 publications

    4.6K citations

1–8 of 495

Venues

  1. Journal of Alzheimer s Disease

    JAD · 17 publications · 596 citations

    15

    h-index

  2. Alzheimer s & Dementia

    9 publications · 440 citations

    9

    h-index

  3. Neurobiology of Aging

    8 publications · 307 citations

    8

    h-index

  4. PLoS ONE

    7 publications · 294 citations

    7

    h-index

  5. Neurology

    7 publications · 621 citations

    7

    h-index

1–5