Pages that link to "Q24651557"

The following pages link to Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies (Q24651557):

Displaying 50 items.

• Joubert syndrome (Q1101694) (← links)
• Joubert Syndrome and related disorders (Q21202880) (← links)
• TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone (Q24299114) (← links)
• The Lowe syndrome protein OCRL1 is involved in primary cilia assembly (Q24301336) (← links)
• Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways (Q24302034) (← links)
• Functional genomic screen for modulators of ciliogenesis and cilium length (Q24306699) (← links)
• Silencer of death domains (SODD) inhibits skeletal muscle and kidney enriched inositol 5-phosphatase (SKIP) and regulates phosphoinositide 3-kinase (PI3K)/Akt signaling to the actin cytoskeleton (Q24308073) (← links)
• OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome (Q24318114) (← links)
• OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin (Q24320320) (← links)
• The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions (Q24337384) (← links)
• The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia (Q24337528) (← links)
• Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1 (Q24624573) (← links)
• The role of primary cilia in neuronal function (Q24632925) (← links)
• Cellular Mechanisms of Ciliary Length Control (Q26769756) (← links)
• Current topics of functional links between primary cilia and cell cycle (Q26771488) (← links)
• The role of primary cilia in the development and disease of the retina (Q26822720) (← links)
• The role of secretory and endocytic pathways in the maintenance of cell polarity (Q26827931) (← links)
• Podocyte endocytosis in the regulation of the glomerular filtration barrier (Q27004073) (← links)
• Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies (Q27012842) (← links)
• Phosphoinositides: tiny lipids with giant impact on cell regulation (Q27012953) (← links)
• Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease (Q27025518) (← links)
• The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies (Q27026481) (← links)
• Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome (Q27319191) (← links)
• PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity (Q27704536) (← links)
• Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier? (Q27967655) (← links)
• ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting (Q28000117) (← links)
• Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development (Q28506685) (← links)
• Phosphatidylinositol-4-phosphate 5-kinases and phosphatidylinositol 4,5-bisphosphate synthesis in the brain (Q28506799) (← links)
• The inositol Inpp5k 5-phosphatase affects osmoregulation through the vasopressin-aquaporin 2 pathway in the collecting system (Q28508029) (← links)
• Proteomic analysis of mammalian primary cilia (Q28512191) (← links)
• Emerging targets in lipid-based therapy (Q28655456) (← links)
• Tubby is required for trafficking G protein-coupled receptors to neuronal cilia (Q29347244) (← links)
• The primary cilium: a signalling centre during vertebrate development (Q29547197) (← links)
• Ciliopathies (Q29614821) (← links)
• The emerging mechanisms of isoform-specific PI3K signalling (Q29617954) (← links)
• Trafficking to the primary cilium membrane. (Q30353488) (← links)
• A key role for the phosphorylation of Ser440 by the cyclic AMP-dependent protein kinase in regulating the activity of the Src homology 2 domain-containing Inositol 5'-phosphatase (SHIP1). (Q30429837) (← links)
• Clinical and molecular features of Joubert syndrome and related disorders (Q33514006) (← links)
• Disease gene characterization through large-scale co-expression analysis (Q33521690) (← links)
• Novel approaches to studying the genetic basis of cerebellar development (Q33553583) (← links)
• Role of primary cilia in brain development and cancer (Q33691107) (← links)
• PI3K class II α controls spatially restricted endosomal PtdIns3P and Rab11 activation to promote primary cilium function (Q33701751) (← links)
• Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population (Q34031174) (← links)
• PI3K: from the bench to the clinic and back (Q34195495) (← links)
• Ciliopathies: the trafficking connection (Q34207085) (← links)
• Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. (Q34246303) (← links)
• INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability (Q34447855) (← links)
• Ciliopathies: an expanding disease spectrum (Q34626170) (← links)
• The Hedgehog pathway effector smoothened exhibits signaling competency in the absence of ciliary accumulation (Q34747353) (← links)
• The tumor suppressor CDKN3 controls mitosis (Q34775279) (← links)