Nicole Luche
A5086712233- Hippo pathway signaling and YAP/TAZ
- Reproductive System and Pregnancy
- Glycosylation and Glycoproteins Research
- Advanced biosensing and bioanalysis techniques
- Systemic Lupus Erythematosus Research
- Religion, Spirituality, and Psychology
- DNA Repair Mechanisms
- Pregnancy and Medication Impact
- Genomics and Chromatin Dynamics
- Proteoglycans and glycosaminoglycans research
University of Pittsburgh
2024
Boston Children's Hospital
2017-2019
Harvard University
2017
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition altered fibroblast growth factor 2 signaling, which was rescued by overexpression of wild-type EXTL3 cDNA. Interleukin-2–mediated STAT5 phosphorylation patients’...