Cilia Regulation and Disease Lab, CEDOC Chronic Diseases Research Center, NOVA Medical School / Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Campo Dos Mártires Da PátriaC SeixasMembrane Traffic in Infection & Disease, CEDOC Chronic Diseases Research Center, NOVA Medical School /...
Localized in the cilia, it is required for cilium biogenesis and sonic hedgehog signaling. Defects in ARL13B are the cause of Joubert syndrome (JS) which is an autosomal recessive disorder characterized by a distinctive cerebellar malformation (PMID: 19906870).This antibody detects two specific ...
Cilia 2015, 4(Suppl 1):P73 http://www.ciliajournal.com/content/4/S1/P73 POSTER PRESENTATION Open Access Arl13b interferes with a-tubulin acetylation P Pintado1*, C Seixas2, D C Barral2, S S Lopes1 From Cilia 2014 - Second International Conference Paris, France. 18-21 November 2014 ...
NIH-3T3 stained in DAPI (nucleus), FITC (gamma tubulin), Cy3 (Arl13b). The last picture is the merged channels (FITC and Cy3). On the merged channel, we can conclude that all Cy3 signal is validated by the FITC one (gamma tubulin is present at the base of the primary cilia). Perf...
ARL13B is a small regulatory GTPase that controls ciliary membrane composition in both motile cilia and non-motile primary cilia. In this study, we investigated the role of ARL13B in the efferent ductules, tubules of the male reproductive tract essential
Localized in the cilia, it is required for cilium biogenesis and sonic hedgehog signaling. Defects in ARL13B are the cause of Joubert syndrome (JS) which is an autosomal recessive disorder characterized by a distinctive cerebellar malformation (PMID: 19906870).This antibody detects two specific ...
ARL13B encodes for the ADP-ribosylation factor-like 13B GTPase, which is required for normal cilia structure and Sonic hedgehog (Shh) signaling. Disruptions in cilia structure or function lead to a class of human disorders called ciliopathies. Joubert syndrome is characterized by a wide spectrum ...
The small GTPase Arl13b is enriched in primary cilia and regulates Sonic hedgehog (Shh) signaling. During neural development, Shh controls patterning and proliferation through a canonical, transcription-dependent pathway that requires the primary cilium. Additionally, Shh controls axon guidance through a...
Neither antibody showed reactivity with the cilia in the hennin mutant19 (data not shown). Antibodies were used at the following concentrations: Arl13b, 1:2000; acetylated tubulin (Zymed 32-2700), 1:500; calbindin (Swant), 1:600. Cerebellar granule neurons were isolated with a cell-density...
ARL13B is required for cilia formation in vertebrates. JS patients display multiple symptoms characterized by ataxia due to the cerebellar vermis hypoplasia, and that can also include ocular abnormalities, renal cysts, liver fibrosis or polydactyly. These symptoms are shared with other ciliopathies, ...