Diego Sepulveda-Falla

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.

• 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)

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

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