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000904313 1001_ $$00000-0003-1845-9138$$aPagnon de la Vega, María$$b0
000904313 245__ $$aThe Uppsala APP deletion causes early onset autosomal dominant Alzheimer’s disease by altering APP processing and increasing amyloid β fibril formation
000904313 260__ $$aWashington, DC$$bAAAS$$c2021
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000904313 500__ $$aERRATUM: 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.
000904313 520__ $$aPoint mutations in the amyloid precursor protein gene (APP) cause familial Alzheimer’s disease (AD) by increasing generation or altering conformation of amyloid β (Aβ). Here, we describe the Uppsala APP mutation (Δ690–695), the first reported deletion causing autosomal dominant AD. Affected individuals have an age at symptom onset in their early forties and suffer from a rapidly progressing disease course. Symptoms and biomarkers are typical of sporadic AD, except that these three patients had high cerebrospinal fluid (CSF) Aβ42 and only modest brain pathology as detected by amyloid-positron emission tomography. Mass spectrometry and Western blot analyses of patient CSF and media from experimental cell cultures indicate that the Uppsala APP mutation alters APP processing by increasing β-secretase cleavage and affecting α-secretase cleavage. Furthermore, in vitro aggregation studies and analyses of patient brain tissue samples indicate that the longer form of mutated Aβ, AβUpp1–42Δ19–24, accelerates the formation of fibrils with unique polymorphs and their deposition into amyloid plaques in the affected brain.
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000904313 7001_ $$00000-0003-3423-2021$$aGiedraitis, Vilmantas$$b1
000904313 7001_ $$00000-0002-3096-3604$$aMichno, Wojciech$$b2
000904313 7001_ $$0P:(DE-HGF)0$$aKilander, Lena$$b3
000904313 7001_ $$00000-0002-5875-5815$$aGüner, Gökhan$$b4
000904313 7001_ $$0P:(DE-Juel1)176935$$aZielinski, Mara$$b5
000904313 7001_ $$0P:(DE-HGF)0$$aLöwenmark, Malin$$b6
000904313 7001_ $$0P:(DE-HGF)0$$aBrundin, RoseMarie$$b7
000904313 7001_ $$00000-0002-2454-5086$$aDanfors, Torsten$$b8
000904313 7001_ $$0P:(DE-HGF)0$$aSöderberg, Linda$$b9
000904313 7001_ $$0P:(DE-HGF)0$$aAlafuzoff, Irina$$b10
000904313 7001_ $$0P:(DE-HGF)0$$aNilsson, Lars N. G.$$b11
000904313 7001_ $$00000-0001-7292-1608$$aErlandsson, Anna$$b12
000904313 7001_ $$0P:(DE-Juel1)132029$$aWillbold, Dieter$$b13
000904313 7001_ $$00000-0003-3414-307X$$aMüller, Stephan A.$$b14
000904313 7001_ $$0P:(DE-Juel1)132018$$aSchröder, Gunnar F.$$b15
000904313 7001_ $$00000-0001-6059-198X$$aHanrieder, Jörg$$b16
000904313 7001_ $$00000-0003-2211-2575$$aLichtenthaler, Stefan F.$$b17
000904313 7001_ $$0P:(DE-HGF)0$$aLannfelt, Lars$$b18
000904313 7001_ $$00000-0002-9430-3859$$aSehlin, Dag$$b19
000904313 7001_ $$00000-0001-5466-8370$$aIngelsson, Martin$$b20$$eCorresponding author
000904313 773__ $$0PERI:(DE-600)2518839-2$$a10.1126/scitranslmed.abc6184$$gVol. 13, no. 606, p. eabc6184$$n606$$peabc6184$$tScience translational medicine$$v13$$x1946-6234$$y2021
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