MD PI / Group Leader ID: 49836

Diego Sepulveda-Falla

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Research Interests

My group 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 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)
  • Identification of brain cell-type specific gene-regulatory networks in PS1 E280A Familial Alzheimer Disease patients (DFG grant 458854216)

 

Techniques and Methods

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

 

Supervising of master and PHD thesis

Current:

  • J. Lisa Schiffelbein, PhD candidate
  • Nelson David Villalba-Moreno, PhD candidate
  • Sergio Calero-Martinez, MD candidate
  • Pinzhang Lu, MSc candidate

Former:

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

Publications

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

Research output: SCORING: Contribution to journalSCORING: Review articleResearch

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

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