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@ARTICLE{PagnondelaVega:904313,
      author       = {Pagnon de la Vega, María and Giedraitis, Vilmantas and
                      Michno, Wojciech and Kilander, Lena and Güner, Gökhan and
                      Zielinski, Mara and Löwenmark, Malin and Brundin, RoseMarie
                      and Danfors, Torsten and Söderberg, Linda and Alafuzoff,
                      Irina and Nilsson, Lars N. G. and Erlandsson, Anna and
                      Willbold, Dieter and Müller, Stephan A. and Schröder,
                      Gunnar F. and Hanrieder, Jörg and Lichtenthaler, Stefan F.
                      and Lannfelt, Lars and Sehlin, Dag and Ingelsson, Martin},
      title        = {{T}he {U}ppsala {APP} deletion causes early onset autosomal
                      dominant {A}lzheimer’s disease by altering {APP}
                      processing and increasing amyloid β fibril formation},
      journal      = {Science translational medicine},
      volume       = {13},
      number       = {606},
      issn         = {1946-6234},
      address      = {Washington, DC},
      publisher    = {AAAS},
      reportid     = {FZJ-2021-05883},
      pages        = {eabc6184},
      year         = {2021},
      note         = {ERRATUM: In the Research Article “The Uppsala APP
                      deletion causes early onset autosomal dominant Alzheimer’s
                      disease by altering APP processing and increasing amyloid-β
                      fibril formation”, Figure 1A shows incorrect labelling of
                      the three patients and Figure 1C does not display the
                      correct transversal FDG-PET image for patient 3. These
                      errors have been corrected. Line 4 of the abstract included
                      an incorrect statement and this has been revised to read:
                      “Symptoms and biomarkers are typical of sporadic AD,
                      except that these three patients had high cerebrospinal
                      fluid (CSF) Aβ42 and only modest brain pathology as
                      detected with amyloid-positron emission tomography”. On
                      page 4, left column, the text discussing Figure 4C was
                      imprecise and has been revised to read: “The amounts of
                      Aβwt1–40 and Aβwt1–42 in CSF, produced from the
                      nonmutated APP allele, were lower in patients with the
                      Uppsala APP mutation compared to healthy control subjects.
                      In addition, the amount of Aβwt1–40 in the CSF of
                      patients with the mutation was lower than in sAD cases (Fig.
                      4C).” The online PDF and HTML (full text) have been
                      updated. These corrections do not impact the interpretation
                      of the data or the conclusions of the paper.},
      abstract     = {Point mutations in the amyloid precursor protein gene (APP)
                      cause familial Alzheimer’s disease (AD) by increasing
                      generation or altering conformation of amyloid β (Aβ).
                      Here, we describe the Uppsala APP mutation (Δ690–695),
                      the first reported deletion causing autosomal dominant AD.
                      Affected individuals have an age at symptom onset in their
                      early forties and suffer from a rapidly progressing disease
                      course. Symptoms and biomarkers are typical of sporadic AD,
                      except that these three patients had high cerebrospinal
                      fluid (CSF) Aβ42 and only modest brain pathology as
                      detected by amyloid-positron emission tomography. Mass
                      spectrometry and Western blot analyses of patient CSF and
                      media from experimental cell cultures indicate that the
                      Uppsala APP mutation alters APP processing by increasing
                      β-secretase cleavage and affecting α-secretase cleavage.
                      Furthermore, in vitro aggregation studies and analyses of
                      patient brain tissue samples indicate that the longer form
                      of mutated Aβ, AβUpp1–42Δ19–24, accelerates the
                      formation of fibrils with unique polymorphs and their
                      deposition into amyloid plaques in the affected brain.},
      cin          = {IBI-7},
      ddc          = {500},
      cid          = {I:(DE-Juel1)IBI-7-20200312},
      pnm          = {5244 - Information Processing in Neuronal Networks
                      (POF4-524)},
      pid          = {G:(DE-HGF)POF4-5244},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34380771},
      UT           = {WOS:000686429000003},
      doi          = {10.1126/scitranslmed.abc6184},
      url          = {https://juser.fz-juelich.de/record/904313},
}