Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Marc D. Tambini"'
Autor:
Metin Yesiltepe, Tao Yin, Marc D. Tambini, Lionel Breuillaud, Simone P. Zehntner, Luciano D’Adamio
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Cleavage of Amyloid precursor protein by β- and γ-secretases lead to Aβ formation. The widely accepted pathogenic model states that these mutations cause AD via an increase in Aβ formation and accumulation of Aβ in Amyloid plaques. APP mutations
Externí odkaz:
https://doaj.org/article/f9500c3c37b143f7b8aafee7a137c7d5
Publikováno v:
eLife, Vol 9 (2020)
To study the mechanisms by which the p.R47H variant of the microglia gene and Alzheimer’s disease (AD) risk factor TREM2 increases dementia risk, we created Trem2R47H KI rats. Trem2R47H rats were engineered to produce human Aβ to define human-Aβ-
Externí odkaz:
https://doaj.org/article/75eb727dc20e4a2f8ce457305ca5c5df
Publikováno v:
eLife, Vol 9 (2020)
Cleavage of APP by BACE1/β-secretase initiates the amyloidogenic cascade leading to Amyloid-β (Aβ) production. α-Secretase initiates the non-amyloidogenic pathway preventing Aβ production. Several APP mutations cause familial Alzheimer’s disea
Externí odkaz:
https://doaj.org/article/d6e2b53354ce4c0190bc1e83ea1c377b
Autor:
Marc D. Tambini, Tao Yin, Metin Yesiltepe, Lionel Breuillaud, Simone P. Zehntner, Luciano D'Adamio
Background While most Alzheimer’s disease cases are sporadic with late onset (LOAD), ~ 2% of cases are inherited, have an early onset, and are caused by mutations in Presenilins (PSEN1/2) or Amyloid-β Precursor Protein (APP) genes (familial AD, FA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37fe0a4a21e57eb489fef8087ca0b3f6
https://doi.org/10.21203/rs.3.rs-2272441/v1
https://doi.org/10.21203/rs.3.rs-2272441/v1
Autor:
Marc D. Tambini, Tao Yin, Metin Yesiltepe, Lionel Breuillaud, Simone P. Zehntner, Cristina d’Abramo, Luca Giliberto, Luciano D’Adamio
Publikováno v:
Journal of Biological Chemistry. :104868
Autor:
Marc D. Tambini, Luciano D'Adamio
Publikováno v:
Journal of Biological Chemistry. 295:7442-7451
Familial forms of Alzheimer's disease (FAD) are caused by mutations in the gene encoding amyloid precursor protein, whose processing can result in formation of β-amyloid (Aβ). FAD can also result from mutations in the presenilin 1/2 (PSEN1/2) genes
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports
Scientific Reports
Mutations in the Integral membrane protein 2B (ITM2b/BRI2) gene, which codes for a protein called BRI2, cause familial British and Danish dementia (FBD and FDD). Loss of BRI2 function and/or accumulation of amyloidogenic mutant BRI2-derived peptides
Publikováno v:
eLife
eLife, Vol 9 (2020)
eLife, Vol 9 (2020)
To study the mechanisms by which the p.R47H variant of the microglia gene and Alzheimer’s disease (AD) risk factor TREM2 increases dementia risk, we created Trem2R47H KI rats. Trem2R47H rats were engineered to produce human Aβ to define human-Aβ-
Autor:
Luciano D'Adamio, Marc D. Tambini
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
The R47H variant of the Triggering-Receptor-Expressed on Myeloid cells 2 (TREM2) increases the risk of Alzheimer’s disease (AD). Mutagenesis of exon 2 in Knock-in (KI) mouse models of the R47H variant introduced a cryptic splice site, leading to no