A5074166137- Cellular transport and secretion
- Biotin and Related Studies
- Receptor Mechanisms and Signaling
- Retinal Development and Disorders
St James's University Hospital
2019-2023
Loss of functional RAB18 causes the autosomal recessive condition Warburg Micro syndrome. To better understand this disease, we used proximity biotinylation to generate an inventory potential effectors. A restricted set 28 interactions were dependent on binary RAB3GAP1-RAB3GAP2 RAB18-guanine nucleotide exchange factor complex. Twelve these are supported by prior reports, and have directly validated novel with SEC22A, TMCO4, INPP5B. Consistent a role for in regulating membrane contact sites,...
ABSTRACT Loss of functional RAB18 causes the autosomal recessive condition Warburg Micro syndrome. To better understand this disease, we used proximity biotinylation to generate an inventory potential effectors. A restricted set 28 RAB18-interactions were dependent on binary RAB3GAP1-RAB3GAP2 RAB18-guanine nucleotide exchange factor (GEF) complex. 12 these interactions are supported by prior reports and have directly validated novel with SEC22A, TMCO4 INPP5B. Consistent a role for in...