MD PI / Group Leader ID: 49836

Diego Sepulveda-Falla

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Research Interests

My work is focused in the molecular and neuropathological characterization of the Presenilin 1 E280A population suffering from early onset familial Alzheimer's Disease. Specific subjects of interest are non-amyloidogenic functions of Presenilin 1 and their phenotypic impact in the PS1 E280A population. So far we have identified a pathogenic role of the alteration of Ca2+ homeostasis in PS1 mutants associated with mitochondrial function, mitochondria-ER interaction and cellular death.

Current Projects

  • Neuropathological characterization of PS1 E280A familial Alzheimer's disease
  • PSEN1 mutations role in mitochondria-ER tethering and PS1-IP3R interaction

  • PSEN1 mutations impact on Ca2+ homeostasis and cell death
  • PSEN1 mutations impact in white matter damage and vacular disease in familial AD and CADASIL (NIH grant 1RF1NS110048-01)

 

Techniques and Methods

Molecular biology, protein biochemistry, cellular biology, subcellular fractionation of brain tissue, neuropathology of dementias.

 

Supervising of master and PHD thesis

Current:

  • Felix Dinkel, MD candidate
  • Liliana Rojas-Charry, MSc - PhD candidate
  • Sergio Calero-Martinez, MD candidate
  • Tim Versteegen, MD candidate
  • Kyungeun Park, MSc candidate

Publications

Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articles Researchpeer-review

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