Adriana Aguila

Mar 1, 2024 | jbc.org | Adriana Aguila |Peter McPherson

AbstractRab35 is a small GTPase that regulates endosomal membrane trafficking and functions in cell polarity, cytokinesis and growth factor signaling. Altered Rab35 function contributes to progression of glioblastoma, defects in primary cilia formation and altered cytokinesis. Here we report a pediatric patient with global developmental delay, hydrocephalus, a Dandy-Walker malformation, axial hypotonia with peripheral hypertonia, visual problems, and conductive hearing impairment.

Jan 31, 2024 | nature.com | Rahul Kumar |Maleeha Khan |Adriana Aguila |Emily Banks

AbstractLysosomes help maintain cellular proteostasis, and defects in lysosomal positioning and function can cause disease, including neurodegenerative disorders. The spatiotemporal distribution of lysosomes is regulated by small GTPases including Rabs, which are activated by guanine nucleotide exchange factors (GEFs).