Anastasia Schultz

Sep 11, 2024 | jneurosci.org | Marta Chaverra |Alexandra Cheney |Lynn E. George |Anastasia Schultz

ELP1, the Gene Mutated in Familial Dysautonomia, Is Required for Normal Enteric Nervous System Development and Maintenance and for Gut Epithelium Homeostasis Marta Chaverra, Alexandra M. Cheney, Alpha Scheel, Alessa Miller, Lynn George, Anastasia Schultz, Katelyn Henningsen, Douglas Kominsky, Heather Walk, William R. Kennedy, Horacio Kaufmann, Seth Walk, Valérie Copié, Frances Lefcort Journal of Neuroscience 11 September 2024, 44 (37) e2253232024; DOI: 10.1523/JNEUROSCI.2253-23.2024

Sep 3, 2024 | onlinelibrary.wiley.com | Anastasia Schultz |Henar Albertos-Arranz |Xavier Sáez |Jamie Morgan

AIF apoptosis-inducing factor CKO conditional knockout Col IV collagen type IV CRALBP cellular retinaldehyde-binding protein DCP deep capillary plexus FD Familial dysautonomia GCL ganglion cell layer GFAP glial fibrillary acidic protein Iba1 ionized calcium binding adapter molecule 1 ICP intermediate capillary plexus INL inner nuclear layer IPL inner plexiform layer NFL nerve fiber layer NVU neurovascular unit ONL outer nuclear layer OPL outer plexiform layer RGC retinal ganglion cells RPCN...

Aug 8, 2024 | jneurosci.org | Alexandra Cheney |Lynn E. George |Anastasia Schultz |Marta Chaverra

AbstractFamilial dysautonomia (FD) is a rare sensory and autonomic neuropathy that results from a mutation in the ELP1 gene. Virtually all patients report gastrointestinal (GI) dysfunction and we have recently shown that FD patients have a dysbiotic gut microbiome and altered metabolome. These findings were recapitulated in an FD mouse model and moreover, the FD mice had reduced intestinal motility, as did patients.