ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. Export

@article{citeulike:3872916, abstract = {ADP-ribosylation factor-like 3 (Arl3) is a member of a small subfamily of G-proteins involved in membrane-associated vesicular and intracellular trafficking processes. Genetic studies in Leishmania have shown that the Arl3 homolog is essential for flagellum biogenesis. Mutations in a related human family member, Arl6, result in Bardet-Biedl syndrome in humans, which is characterized by genital, renal, and retinal abnormalities, obesity, and learning deficits. As part of our large-scale phenotypic screen, mice deficient for the Arl3 gene were generated and analyzed. Arl3 (-/-) mice were born at a sub-Mendelian ratio, were small and sickly, and had markedly swollen abdomens. These mutants failed to thrive, and all died by 3 weeks of age. The (-/-) mice exhibited abnormal development of renal, hepatic, and pancreatic epithelial tubule structures, which is characteristic of the renal-hepatic-pancreatic dysplasia found in autosomal recessive polycystic kidney disease. Absence of Arl3 was associated with abnormal epithelial cell proliferation and cyst formation. Moreover, mice lacking Arl3 exhibited photoreceptor degeneration as early as postnatal day 14. These results are the first to implicate Arl3 in a ciliary disease affecting the kidney, biliary tract, pancreas, and retina.}, author = {Schrick, J. J. and Vogel, P. and Abuin, A. and Hampton, B. and Rice, D. S.}, citeulike-article-id = {3872916}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/16565502}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=16565502}, issn = {0002-9440}, journal = {The American journal of pathology}, keywords = {arl3, gogi}, month = {April}, number = {4}, pages = {1288--1298}, posted-at = {2009-01-10 10:18:15}, priority = {2}, title = {ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/16565502}, volume = {168}, year = {2006} }

TY - JOUR ID - citeulike:3872916 L3 - citeulike-article-id:3872916 N2 - ADP-ribosylation factor-like 3 (Arl3) is a member of a small subfamily of G-proteins involved in membrane-associated vesicular and intracellular trafficking processes. Genetic studies in Leishmania have shown that the Arl3 homolog is essential for flagellum biogenesis. Mutations in a related human family member, Arl6, result in Bardet-Biedl syndrome in humans, which is characterized by genital, renal, and retinal abnormalities, obesity, and learning deficits. As part of our large-scale phenotypic screen, mice deficient for the Arl3 gene were generated and analyzed. Arl3 (-/-) mice were born at a sub-Mendelian ratio, were small and sickly, and had markedly swollen abdomens. These mutants failed to thrive, and all died by 3 weeks of age. The (-/-) mice exhibited abnormal development of renal, hepatic, and pancreatic epithelial tubule structures, which is characteristic of the renal-hepatic-pancreatic dysplasia found in autosomal recessive polycystic kidney disease. Absence of Arl3 was associated with abnormal epithelial cell proliferation and cyst formation. Moreover, mice lacking Arl3 exhibited photoreceptor degeneration as early as postnatal day 14. These results are the first to implicate Arl3 in a ciliary disease affecting the kidney, biliary tract, pancreas, and retina. IS - 4 JF - The American journal of pathology SN - 0002-9440 EP - 1298 TI - ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. VL - 168 SP - 1288 KW - arl3 KW - gogi AU - Schrick, JJ AU - Vogel, P AU - Abuin, A AU - Hampton, B AU - Rice, DS PY - 2006/04// UR - http://view.ncbi.nlm.nih.gov/pubmed/16565502 ER -