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Home › Research › Topics › presenilin-1-mutations

presenilin-1-mutations

4 studies tagged presenilin-1-mutations, dated 2004-02-01 to 2019-06-21. Bibliography: BibTeX (.bib) · RIS (.ris)

Newest in this topic

  1. Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization 2019-06-21
  2. Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain 2016-04-01
  3. A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis 2004-11-01

Studies

4 studies carry this tag.

Date range

2004 to 2019

Top journals

  • Archives of neurology 1
  • Biochemical and biophysical research communications 1
  • Journal of Alzheimer's disease : JAD 1
  • Neuron 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. Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization

    ✓ Peer-reviewed alzhub usefulness score 43 out of 100. Biochemical and biophysical research communications 2019-06-21 Biomarkers

    Clinical case study and functional characterization of the disease-associated presenilin-1 (PSEN1) mutations may help reveal the roles of PSEN1 in the pathogenesis of Alzheimer's disease (AD).

  2. Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Neuron 2016-04-01 Biomarkers

    We recently reported that homozygous Presenilin-1 (Psen1) knockin (KI) mice carrying the familial Alzheimer's disease (FAD) mutation L435F or C410Y recapitulate the phenotypes of Psen1(-/-) mice.

  3. A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis

    ✓ Peer-reviewed alzhub usefulness score 41 out of 100. Archives of neurology 2004-11-01 Biomarkers

    The Leu85Pro mutation in PSEN1 was pathogenic.

  4. A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations

    ✓ Peer-reviewed alzhub usefulness score 36 out of 100. Journal of Alzheimer's disease : JAD 2004-02-01 Biomarkers

    A novel presenilin-1 (PS1) mutation (P117S) in an American pedigree is described.

All topic tags with their study counts