anti-ADP-Ribosylation Factor-Like 13B (ARL13B) Antikörper

Zebrafish ADP-Ribosylation Factor-Like 13B (ARL13B) Interaktionspartner

1. loss of Arl13b leads to slow photoreceptor degeneration, but can be exacerbated by the loss of vangl2 (zeige VANGL2 Antikörper). Importantly, the data show that Arl13b can genetically and physically interact with Vangl2 (zeige VANGL2 Antikörper) and this association is important for normal photoreceptor structure.

2. Arl13b is an important effector of ciliary membrane biogenesis and ciliary length regulation.

3. Cilia localization is essential for in vivo functions of the Joubert syndrome protein arl13b.

Human ADP-Ribosylation Factor-Like 13B (ARL13B) Interaktionspartner

1. A novel homozygous loss of function mutation in ARL13B was identified in patients with Joubert syndrome

2. High Arl13b expression is associated with medulloblastoma formation.

3. the results show that palmitoylation plays a unique and critical role in controlling the localization, stability, abundance, and thus function of ARL13b. Pharmacological manipulation of protein palmitoylation may be a strategy to alter cilia function.

4. Our results show how Arl13b participates in Hedgehog (zeige SHH Antikörper) pathway activation in gastric cancer

5. Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog (zeige SHH Antikörper) signaling in alkaptonuria (zeige HGD Antikörper).

6. ARL13B regulates IFT-A-mediated retrograde protein trafficking within cilia through its interaction with INPP5E.

7. Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase (zeige RACGAP1 Antikörper) and ARL3 guanine nucleotide exchange factor (zeige RASGRF1 Antikörper) (GEF (zeige SLC2A4RG Antikörper)).(

8. Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity.

9. We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms.

10. X-ray crystallography of Arl13B demonstrates involvement of mutations R79Q and R200C in stabilizing intramolecular interactions.

Mouse (Murine) ADP-Ribosylation Factor-Like 13B (ARL13B) Interaktionspartner

1. High Arl13b expression is associated with medulloblastoma formation.

2. Arl13b dysfunction resulted in hennin cell stagnation due to poor growth factor signaling and impaired detection of extracellular electrical gradients.

3. Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase (zeige RACGAP1 Antikörper) and ARL3 guanine nucleotide exchange factor (zeige ARHGEF12 Antikörper) (GEF (zeige ARHGEF2 Antikörper)).(

4. To investigate whether Arl13b has a role in ciliogenesis in mammalian kidney and whether loss of function of Arl13b leads to cystic kidneys in mammals, we generated a mouse model with kidney-specific conditional knockout of Arl13b Deletion of Arl13b in the distal nephron at the perinatal stage led to a cilia biogenesis defect and rapid kidney cyst formation

5. The authors show that the ciliary G-protein Arl13B, mutated in Joubert syndrome, is the guanine nucleotide exchange factor for Arl3, and its function is conserved in evolution

6. A new role for Arl13b in actin cytoskeleton remodeling through the interaction with Myh9 (zeige MYH9 Antikörper).

7. Early neuroepithelial deletion of ciliary Arl13b reversed the apical-basal polarity of radial progenitors & caused aberrant neuronal placement. Arl13b signaling in primary cilia is crucial for initial formation of a polarized radial glial scaffold.

8. guidance cue receptors essential for interneuronal migration localize to interneuronal primary cilia, but their concentration and dynamics are altered in the absence of Arl13b

9. By deleting Arl13b in mouse, we induced low-level constitutive GliA function at specific developmental stages and defined a crucial period prior to E10.5 when shifts in the level of GliA cause cells to change their fate

10. Study shows the cilia protein Arl13b is required for left right axis specification as its absence results in heterotaxia; the defect originates in the node where Cerl2 (zeige DAND5 Antikörper) is not downregulated and asymmetric expression of Nodal is not maintained resulting in symmetric expression of both genes.