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Home › Research › Topics › psen1

psen1

5 studies tagged psen1, dated 2010-07-14 to 2020-02-04. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations 2020-02-04
  2. A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio 2019-01-01
  3. A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation 2017-01-01

Studies

5 studies carry this tag.

Date range

2010 to 2020

Top journals

  • Journal of Alzheimer's disease : JAD 2
  • Alzheimer's research & therapy 1
  • European journal of human genetics : EJHG 1
  • Neurobiology of disease 1

Newest first, then by address. Each study has a usefulness score out of 100 (rubric version 4.0); tap a score to see what makes it up. Tags were assigned automatically from each study's title and summary. The same studies as a filter in the library.

  1. Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations

    ✓ Peer-reviewed alzhub usefulness score 38 out of 100. Neurobiology of disease 2020-02-04 Biomarkers

    Mutations in APP (amyloid precursor protein), PSEN1 (presenilin 1) or PSEN2 (presenilin 2) are the main cause of early-onset familial forms of Alzheimer's disease (autosomal dominant AD or ADAD).

  2. A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Journal of Alzheimer's disease : JAD 2019-01-01 Biomarkers

    The novel PSEN1 M139L mutation found in familial AD increases the Aβ42/Aβ40 ratio significantly.

  3. A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Journal of Alzheimer's disease : JAD 2017-01-01 Biomarkers

    The K311R mutation might contribute to AD pathogenesis by overproducing toxic Aβ species and enhancing tau phosphorylation.

  4. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

    ✓ Peer-reviewed alzhub usefulness score 47 out of 100. Alzheimer's research & therapy 2012-08-20 Genetics

    We found pathogenic mutations in PSEN1, GRN and MAPT in 2.33% of the screened cases.

  5. The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. European journal of human genetics : EJHG 2010-07-14 Biomarkers

    Early-onset dominantly inherited forms of Alzheimer's disease (AD) are rare, but studies of such cases have revealed important information about the disease mechanisms.

All topic tags with their study counts