Professor of Biology

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Current Research

Brain function requires proper networking and communication between neurons. Brain development is a complex process that involves the movement and proper connectivity of neurons. Mutations in certain genes lead to improper neuron movement and brain development that often lead to severe learning disabilities in children. We are studying a specific pathway that controls one aspect of neuron movement and brain development. A better understanding of the molecular mechanism of how genes affect neuronal migration and development will eventually lead to advances in diagnosis and treatment.

Alzheimer’s disease (AD) is a devastating age-associated neurodegenerative disorder characterized by progressive memory loss and cognitive decline. AD affects millions of people worldwide and the disease is becoming more prevalent as the population ages, making it a major public health concern. The main neuropathological hallmark of AD is amyloid plaques that consist of aggregated amyloid peptides derived from the proteolytic cleavage of the amyloid precursor protein (APP). Understanding the cell biology and molecules controlling APP localization and processing is of great significance for the mechanistic understanding of AD. It will provide novel insights into AD pathogenesis and can lead to the development of novel therapeutic strategies for treating or preventing AD.

Selected Publications

  • Waxman H, Kankkunen M, Gupta A, Dowgiewicz M, Beffert U, Ho A (2025) Foxr1 deletion causes microcephaly and leads to cortical and hippocampal hypoplasia. Frontiers in Neuroscience 19:1589043.
  • Lagani GD, Sha M, Lin W, Natarajan S, Kankkunen M, Kistler SA, Lampl N, Waxman H, Harper ER, Emili A, Beffert U, Ho A (2024) Beyond glycolysis: Aldolase A is a novel effector in Reelin mediated dendritic development. Journal of Neuroscience 44: e0072242024.
  • Gallo CM, Kistler S, Natrakul A, Labadorf AT, Beffert U, Ho A (2024) APOER2 splicing repertoire in Alzheimer’s disease: Insights from long-read RNA sequencing. PLOS Genetics 20: e1011348.
  • Henry S, Kistler SA, Lagani GD, Bartling CRO, Ozcelik D, Sereikaite V, Strømgaard K, Beffert U, Ho A (2023) Tight control of the APP-Mint1 interaction in regulating amyloid production.  Brain Research 1817:148496.
  • Omuro KC, Gallo CM, Scrandis L, Ho A, Beffert U (2022) Human APOER2 isoforms have differential cleavage events and synaptic properties. Journal of Neuroscience 42: 4054-4068.
  • Gallo CM, Labadorf AT, Ho A, Beffert U (2022) Single molecule, long-read Apoer2 sequencing identifies conserved and species-specific splicing patterns. Genomics 114:110318
  • Mota A, Waxman HK, Hong R, Lagani GD, Niu S-Y, Bertherat FL, Wolfe L, Malicdan CM, Markello TC, Adams DR, Gahl WA, Cheng CS, Beffert U, Ho A (2021) FOXR1 regulates stress response pathways and is necessary for proper brain development. PLoS Genetics 17: e1009854.
  • Dillon GM, Tyler WA, Omuro KC, Kambouris J, Tyminski C, Henry S, Haydar TF, Beffert U, Ho A (2017) CLASP2 links reelin to the cytoskeleton during neocortical development. Neuron, 93:1344-1358.

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