Genomes and Genes
Gene Symbol: Tubg1
Description: tubulin, gamma 1
Alias: 1500010O08Rik, AI451582, AI503389, Tubg, tubulin gamma-1 chain, GCP-1, gamma-1-tubulin, gamma-tubulin complex component 1, tubulin, gamma polypeptide
- Abdelhamed Z, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, et al. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Hum Mol Genet. 2013;22:1358-72 pubmed publisher..The Tmem67(tm1(Dgen/H)) line is unique in modelling the variable expressivity of phenotypes in these two ciliopathies. ..
- Slough J, Cooney L, Brueckner M. Monocilia in the embryonic mouse heart suggest a direct role for cilia in cardiac morphogenesis. Dev Dyn. 2008;237:2304-14 pubmed publisher..One possible function of cardiac cilia is as mechanosensors, integrating flow, cardiac function, and morphogenesis. ..
- Huangfu D, Anderson K. Cilia and Hedgehog responsiveness in the mouse. Proc Natl Acad Sci U S A. 2005;102:11325-30 pubmed
- Zhu F, Lawo S, Bird A, Pinchev D, Ralph A, Richter C, et al. The mammalian SPD-2 ortholog Cep192 regulates centrosome biogenesis. Curr Biol. 2008;18:136-41 pubmed publisher..Both proteins are then required for NEDD-1 recruitment and the subsequent assembly of gamma-TuRCs and other factors into fully functional centrosomes. ..
- Shashikala S, Kumar R, Thomas N, Sivadasan D, James J, Sengupta S. Fodrin in centrosomes: implication of a role of fodrin in the transport of gamma-tubulin complex in brain. PLoS ONE. 2013;8:e76613 pubmed publisher..This indicates towards a role of fodrin as a regulatory transporter of ?-tubulin to the centrosomes for normal progression of mitosis. ..
- Fukuda T, Kominami K, Wang S, Togashi H, Hirata K, Mizoguchi A, et al. Aberrant cochlear hair cell attachments caused by Nectin-3 deficiency result in hair bundle abnormalities. Development. 2014;141:399-409 pubmed publisher..These results indicate that, owing to the loss of Nectin-3, hair cells contact each other inappropriately and form abnormal junctions, ultimately resulting in abnormal hair bundle orientation and morphology. ..
- Cappelli E, Townsend S, Griffin C, Thacker J. Homologous recombination proteins are associated with centrosomes and are required for mitotic stability. Exp Cell Res. 2011;317:1203-13 pubmed publisher..Taken together, these data suggest a tight functional linkage between the centrosome and HR proteins, potentially to coordinate the deployment of a DNA damage response at vulnerable phases of the cell cycle. ..
- Kandil E, Kohda K, Ishibashi T, Tanaka K, Kasahara M. PA28 subunits of the mouse proteasome: primary structures and chromosomal localization of the genes. Immunogenetics. 1997;46:337-44 pubmed..It appears that the IFN-gamma-inducible alpha- and beta-subunits emerged by gene duplication from a gamma-subunit-like precursor. ..
- Omori Y, Chaya T, Katoh K, Kajimura N, Sato S, Muraoka K, et al. Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. Proc Natl Acad Sci U S A. 2010;107:22671-6 pubmed publisher..These results suggest that Mak is essential for the regulation of ciliary length and is required for the long-term survival of photoreceptors. ..
- Abdelhamed Z, Vuong S, Hill L, Shula C, Timms A, Beier D, et al. A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice. Development. 2018;145: pubmed publisher..Collectively, our data provide the first evidence for involvement of Ccdc39 in hydrocephalus and suggest that the proper development of medial wall ependymal cilia is crucial for normal mouse brain development. ..
- Vuong B, Arenzana T, Showalter B, Losman J, Chen X, Mostecki J, et al. SOCS-1 localizes to the microtubule organizing complex-associated 20S proteasome. Mol Cell Biol. 2004;24:9092-101 pubmed..These data link SOCS-1 directly with the proteasome pathway and suggest another function for the SH2 domain of SOCS-1 in the regulation of Jak/STAT signaling. ..
- Wang Y, Qi S, Wei Y, Ge Z, Chen L, Hou Y, et al. Knockdown of UCHL5IP causes abnormalities in ?-tubulin localisation, spindle organisation and chromosome alignment in mouse oocyte meiotic maturation. Reprod Fertil Dev. 2013;25:495-502 pubmed publisher..These results suggest that UCHL5IP plays critical roles in spindle formation during mouse oocyte meiotic maturation. ..
- Wu M, Smith C, Hall J, Lee I, Luby Phelps K, Tallquist M. Epicardial spindle orientation controls cell entry into the myocardium. Dev Cell. 2010;19:114-25 pubmed publisher..Taken together, these data suggest that directed mitotic spindle orientation contributes to epicardial EMT and implicate a junctional complex of beta-catenin and Numb in the regulation of spindle orientation. ..
- Westfall J, Hoyt C, Liu Q, Hsiao Y, Pierce E, Page McCaw P, et al. Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. J Neurosci. 2010;30:8759-68 pubmed publisher..The retinal degeneration observed in Ahi1(-/-) mice recapitulates aspects of the retinal phenotype observed in patients with JBTS and suggests the importance of Ahi1 in photoreceptor function. ..
- Grosse A, Pressprich M, Curley L, Hamilton K, Margolis B, Hildebrand J, et al. Cell dynamics in fetal intestinal epithelium: implications for intestinal growth and morphogenesis. Development. 2011;138:4423-32 pubmed publisher..These results favor an alternative model of intestinal morphogenesis in which the epithelium remains single layered and apicobasally polarized throughout early intestinal development. ..
- Pulvers J, Bryk J, Fish J, Wilsch Bräuninger M, Arai Y, Schreier D, et al. Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline. Proc Natl Acad Sci U S A. 2010;107:16595-600 pubmed publisher..Our findings broaden the spectrum of phenotypic effects of ASPM mutations and raise the possibility that positive selection of ASPM during primate evolution reflects its function in the germline...
- Bangs F, Antonio N, Thongnuek P, Welten M, Davey M, Briscoe J, et al. Generation of mice with functional inactivation of talpid3, a gene first identified in chicken. Development. 2011;138:3261-72 pubmed publisher..This genetic mouse model will facilitate further conditional approaches, epistatic experiments and open up investigation into the function of the novel talpid3 gene using the many resources available for mice. ..
- Feng Y, Olson E, Stukenberg P, Flanagan L, Kirschner M, Walsh C. LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron. 2000;28:665-79 pubmed..Thus, LIS1-mNudE interactions may regulate neuronal migration through dynamic reorganization of the MTOC. ..
- Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin J, Francis R, et al. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech. 2011;4:43-56 pubmed publisher..On the basis of these results, we hypothesize a role for the B9 domain in mother centriole targeting, a possibility that warrants further future investigations. ..
- Daviaud N, Chen K, Huang Y, Friedel R, Zou H. Impaired cortical neurogenesis in plexin-B1 and -B2 double deletion mutant. Dev Neurobiol. 2016;76:882-99 pubmed publisher..2015 Wiley Periodicals, Inc. Develop Neurobiol 76: 882-899, 2016. ..
- Cheng A, Zhang M, Gentry M, Worby C, Dixon J, Saltiel A. A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. Genes Dev. 2007;21:2399-409 pubmed..Taken together, these results indicate that binding to glycogen crucially regulates the stability of AGL and, further, that its ubiquitination may play an important role in the pathophysiology of both Lafora and Cori's disease. ..
- Atwood S, Li M, Lee A, Tang J, Oro A. GLI activation by atypical protein kinase C ?/? regulates the growth of basal cell carcinomas. Nature. 2013;494:484-8 pubmed publisher..These results demonstrate that aPKC-?/? is critical for HH-dependent processes and implicates aPKC-?/? as a new, tumour-selective therapeutic target for the treatment of SMO-inhibitor-resistant cancers. ..
- Pilaz L, McMahon J, Miller E, Lennox A, Suzuki A, SALMON E, et al. Prolonged Mitosis of Neural Progenitors Alters Cell Fate in the Developing Brain. Neuron. 2016;89:83-99 pubmed publisher..Together our findings reveal that prolonged mitosis is sufficient to alter fates of radial glia progeny and define a new paradigm to understand how mitosis perturbations underlie brain size disorders such as microcephaly. ..
- Kohda K, Matsuda Y, Ishibashi T, Tanaka K, Kasahara M. Structural analysis and chromosomal localization of the mouse Psmb5 gene coding for the constitutively expressed beta-type proteasome subunit. Immunogenetics. 1997;47:77-87 pubmed..These results were confirmed by fluorescent in situ hybridization analysis that localized Psmb5 to band C2 to proximal D1 of chromosome 14 and Psmb5-ps to band D of chromosome 11. ..
- Chen J, Zhang Y, Wilde J, Hansen K, Lai F, Niswander L. Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size. Nat Commun. 2014;5:3885 pubmed publisher..Our results suggest that Wdr62 interacts with Aurora A to control mitotic progression, and loss of these interactions leads to mitotic delay and cell death of NPCs, which could be a potential cause of human microcephaly. ..
- Gerhardt C, Lier J, Kuschel S, Ruther U. The ciliary protein Ftm is required for ventricular wall and septal development. PLoS ONE. 2013;8:e57545 pubmed publisher..Thus, our study suggests ciliopathy as a cause of VSDs. ..
- Breuss M, Fritz T, Gstrein T, Chan K, Ushakova L, Yu N, et al. Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis. Development. 2016;143:1126-33 pubmed publisher..This work sheds light on the functional repertoire of Tubb5, reveals that the E401K mutation acts by a complex mechanism, and demonstrates that the cellular pathology driving TUBB5-associated microcephaly is cell death. ..
- Ma Z, Kanai M, Kawamura K, Kaibuchi K, Ye K, Fukasawa K. Interaction between ROCK II and nucleophosmin/B23 in the regulation of centrosome duplication. Mol Cell Biol. 2006;26:9016-34 pubmed..All these findings point to ROCK II as the effector of the CDK2/cyclin E-NPM/B23 pathway in the regulation of centrosome duplication. ..
- Chang R, Petersen J, Niswander L, Liu A. A hypomorphic allele reveals an important role of inturned in mouse skeletal development. Dev Dyn. 2015;244:736-47 pubmed publisher..However, patterning of the neural tube and planar cell polarity appear to be normal. This hypomorphic Intu allele highlights an important role of Intu in mouse skeletal development. ..
- Boutin C, Labedan P, Dimidschstein J, Richard F, Cremer H, Andre P, et al. A dual role for planar cell polarity genes in ciliated cells. Proc Natl Acad Sci U S A. 2014;111:E3129-38 pubmed publisher..Loss of either of these signals is associated with specific defects in the cytoskeleton. Our data reveal unreported functions of PCP and provide an integrated view of planar polarization of the brain ciliated cells. ..
- Xie Y, Jüschke C, Esk C, Hirotsune S, Knoblich J. The phosphatase PP4c controls spindle orientation to maintain proliferative symmetric divisions in the developing neocortex. Neuron. 2013;79:254-65 pubmed publisher..Our results identify a key regulator of cortical development and demonstrate that changes in the orientation of progenitor division are responsible for the transition between symmetric and asymmetric cell division. ..
- Willaredt M, Gorgas K, Gardner H, Tucker K. Multiple essential roles for primary cilia in heart development. Cilia. 2012;1:23 pubmed publisher..Our data further point to a potential linkage of atrioventricular septal defects, the most common congenital heart defects, to genes of the transport machinery or basal body of the cilia. ..
- Chacon Heszele M, Ren D, Reynolds A, Chi F, Chen P. Regulation of cochlear convergent extension by the vertebrate planar cell polarity pathway is dependent on p120-catenin. Development. 2012;139:968-78 pubmed publisher..Together, these results indicate that the vertebrate PCP pathway regulates CE and hair cell polarity independently and that a p120-catenin-dependent mechanism regulates CE of the cochlea. ..
- Watanabe T, Chuma S, Yamamoto Y, Kuramochi Miyagawa S, Totoki Y, Toyoda A, et al. MITOPLD is a mitochondrial protein essential for nuage formation and piRNA biogenesis in the mouse germline. Dev Cell. 2011;20:364-75 pubmed publisher..Our results indicate a conserved role for MITOPLD/Zuc in the piRNA pathway and link mitochondrial membrane metabolism/signaling to small RNA biogenesis. ..
- FerrÃ³n S, Radford E, Domingo Muelas A, Kleine I, Ramme A, Gray D, et al. Differential genomic imprinting regulates paracrine and autocrine roles of IGF2 in mouse adult neurogenesis. Nat Commun. 2015;6:8265 pubmed publisher..Our findings indicate that a regulatory decision to imprint or not is a functionally important mechanism of transcriptional dosage control in adult neurogenesis. ..
- Goto M, O Brien D, Eddy E. Speriolin is a novel human and mouse sperm centrosome protein. Hum Reprod. 2010;25:1884-94 pubmed publisher..Speriolin is a novel centrosomal protein present in the connecting piece region of mouse and human sperm that is transmitted to the mouse zygote and can be detected throughout the first mitotic division. ..
- Christopher K, Wang B, Kong Y, Weatherbee S. Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. Dev Biol. 2012;368:382-92 pubmed publisher..Together, these studies identify a previously unknown regulator of ciliogenesis and provide insight into how ciliary factors affect Shh signaling and cilia biogenesis in distinct tissues. ..
- LUPU F, Burnett J, Eggenschwiler J. Cell cycle-related kinase regulates mammalian eye development through positive and negative regulation of the Hedgehog pathway. Dev Biol. 2018;434:24-35 pubmed publisher..These results indicate that CCRK functions in eye development by both positively and negatively regulating the Hh pathway, and they reveal distinct requirements for Hh signaling in patterning and morphogenesis of the eyes. ..
- Ma W, Koch J, Viveiros M. Protein kinase C delta (PKCdelta) interacts with microtubule organizing center (MTOC)-associated proteins and participates in meiotic spindle organization. Dev Biol. 2008;320:414-25 pubmed publisher..In sum, these results indicate that pPKCdelta(Thr505) interacts with MTOC-associated proteins and plays a role in meiotic spindle organization in mammalian oocytes...
- KUSEK G, Campbell M, Doyle F, Tenenbaum S, Kiebler M, Temple S. Asymmetric segregation of the double-stranded RNA binding protein Staufen2 during mammalian neural stem cell divisions promotes lineage progression. Cell Stem Cell. 2012;11:505-16 pubmed publisher..We immunoprecipitated Stau2 to examine its cargo mRNAs, and found enrichment for known asymmetric and basal cell determinants, such as Trim32, and identified candidates, including a subset involved in primary cilium function. ..
- Manning J, Shalini S, Risk J, Day C, Kumar S. A direct interaction with NEDD1 regulates gamma-tubulin recruitment to the centrosome. PLoS ONE. 2010;5:e9618 pubmed publisher..Hence, this study defines the binding site on NEDD1 that is required for its interaction with gamma-tubulin, and shows that this interaction is required for the correct localization of gamma-tubulin. ..
- Pramparo T, Youn Y, Yingling J, Hirotsune S, Wynshaw Boris A. Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction. J Neurosci. 2010;30:3002-12 pubmed publisher..Thus, we provide definitive evidence for a critical role for Dcx in neuronal migration and neurogenesis, as well as for the in vivo genetic interaction of the two genes most commonly involved in human neuronal migration defects. ..
- Mirzadeh Z, Han Y, Soriano Navarro M, Garcia Verdugo J, Alvarez Buylla A. Cilia organize ependymal planar polarity. J Neurosci. 2010;30:2600-10 pubmed publisher..These results suggest that ependymal planar cell polarity is a multistep process initially organized by primary cilia in radial glia and then refined by motile cilia in ependymal cells. ..
- Grego Bessa J, Hildebrand J, Anderson K. Morphogenesis of the mouse neural plate depends on distinct roles of cofilin 1 in apical and basal epithelial domains. Development. 2015;142:1305-14 pubmed publisher..The basal accumulation of F-actin is associated with the assembly of ectopic basal tight junctions and focal disruptions of the basement membrane, which eventually lead to a breakdown of epithelial organization. ..
- Veleri S, Manjunath S, Fariss R, May Simera H, Brooks M, Foskett T, et al. Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis. Nat Commun. 2014;5:4207 pubmed publisher..We conclude that CC2D2A is essential for the assembly of subdistal appendages, which anchor cytoplasmic microtubules and prime the mother centriole for axoneme biogenesis. ..
- Di Fiore B, Ciciarello M, Mangiacasale R, Palena A, Tassin A, Cundari E, et al. Mammalian RanBP1 regulates centrosome cohesion during mitosis. J Cell Sci. 2003;116:3399-411 pubmed..These data indicate that overexpressed RanBP1 interferes with crucial factor(s) that control structural and dynamic features of centrosomes during mitosis and contribute to uncover novel mitotic functions downstream of the Ran network. ..
- Bakircioglu M, Carvalho O, Khurshid M, Cox J, Tuysuz B, Barak T, et al. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet. 2011;88:523-35 pubmed publisher..Thus, NDE1 deficiency causes both a severe failure of neurogenesis and a deficiency in cortical lamination. Our data further highlight the importance of the centrosome in multiple aspects of neurodevelopment. ..
- Chilov D, Sinjushina N, Rita H, Taketo M, Makela T, Partanen J. Phosphorylated ?-catenin localizes to centrosomes of neuronal progenitors and is required for cell polarity and neurogenesis in developing midbrain. Dev Biol. 2011;357:259-68 pubmed publisher..The results demonstrate a novel function for p-?-cat in maintaining neuroepithelial integrity and suggest that centrosomal p-ß-cat is required to maintain symmetric cleavages and polarity in neural progenitors. ..
- Gueth Hallonet C, Antony C, Aghion J, Santa Maria A, Lajoie Mazenc I, Wright M, et al. gamma-Tubulin is present in acentriolar MTOCs during early mouse development. J Cell Sci. 1993;105 ( Pt 1):157-66 pubmed..In parallel, electron microscopy studies allowed us to detect centrioles for the first time at the 64-cell stage. The possible roles of gamma-tubulin in microtubule nucleation and in centrosome maturation are discussed. ..
- Siller S, Sharma H, Li S, Yang J, Zhang Y, Holtzman M, et al. Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation. PLoS Genet. 2017;13:e1007128 pubmed publisher..Furthermore, our mouse model provides a useful tool to gain physiological insight into diseases associated with defective multicilia. ..
- Macurek L, Dráberová E, Richterová V, Sulimenko V, Sulimenko T, Dráberová L, et al. Regulation of microtubule nucleation from membranes by complexes of membrane-bound gamma-tubulin with Fyn kinase and phosphoinositide 3-kinase. Biochem J. 2008;416:421-30 pubmed publisher..The combined results suggest that Fyn and PI3K might take part in the modulation of membrane-associated gamma-tubulin activities. ..
- Wang X, Yang Y, Duan Q, Jiang N, Huang Y, Darzynkiewicz Z, et al. sSgo1, a major splice variant of Sgo1, functions in centriole cohesion where it is regulated by Plk1. Dev Cell. 2008;14:331-41 pubmed publisher..Our studies strongly suggest that sSgo1 plays an essential role in protecting centriole cohesion, which is partly regulated by Plk1. ..
- de Lecea L, Kilduff T, Peyron C, Gao X, Foye P, Danielson P, et al. The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc Natl Acad Sci U S A. 1998;95:322-7 pubmed..One of the Hcrt peptides was excitatory when applied to cultured, synaptically coupled hypothalamic neurons, but not hippocampal neurons. These observations suggest that the hypocretins function within the CNS as neurotransmitters. ..
- Kadzik R, Cohen E, Morley M, Stewart K, Lu M, Morrisey E. Wnt ligand/Frizzled 2 receptor signaling regulates tube shape and branch-point formation in the lung through control of epithelial cell shape. Proc Natl Acad Sci U S A. 2014;111:12444-9 pubmed publisher..This study demonstrates the importance of Wnt/Fzd2 signaling in promoting and maintaining changes in epithelial cell shape that affect development of a branching network. ..
- Tong C, Han Y, Shah J, Obernier K, Guinto C, Alvarez Buylla A. Primary cilia are required in a unique subpopulation of neural progenitors. Proc Natl Acad Sci U S A. 2014;111:12438-43 pubmed publisher..Primary cilia ablation led to disruption of Hh signaling in this subdomain. We conclude that primary cilia are required in a specific Hh-regulated subregion of the postnatal V-SVZ. ..
- Yang Y, Wang C, Van Aelst L. DOCK7 interacts with TACC3 to regulate interkinetic nuclear migration and cortical neurogenesis. Nat Neurosci. 2012;15:1201-10 pubmed publisher..Thus, DOCK7 interaction with TACC3 controls interkinetic nuclear migration and the genesis of neurons from RGCs during cortical development. ..
- Agbu S, Liang Y, Liu A, Anderson K. The small GTPase RSG1 controls a final step in primary cilia initiation. J Cell Biol. 2018;217:413-427 pubmed publisher..The data suggest a specific role for RSG1 in the final maturation of the mother centriole and ciliary vesicle that allows extension of the ciliary axoneme. ..
- Layman W, McEwen D, Beyer L, Lalani S, Fernbach S, Oh E, et al. Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome. Hum Mol Genet. 2009;18:1909-23 pubmed publisher..These studies provide evidence that mammalian olfactory dysfunction due to Chd7 haploinsufficiency is linked to primary defects in olfactory neural stem cell proliferation and may influence olfactory bulb development. ..
- Meng X, Fan H, Zhong Z, Zhang G, Li Y, Chen D, et al. Localization of gamma-tubulin in mouse eggs during meiotic maturation, fertilization, and early embryonic development. J Reprod Dev. 2004;50:97-105 pubmed..Our results suggest that gamma-tubulin is essential for microtubule nucleation and spindle formation during mouse oocyte meiosis, fertilization, and early embryo cleavage. ..
- Huang X, Andreu Vieyra C, York J, Hatcher R, Lu T, Matzuk M, et al. Inhibitory phosphorylation of separase is essential for genome stability and viability of murine embryonic germ cells. PLoS Biol. 2008;6:e15 pubmed publisher..Our results indicate that inhibitory phosphorylation of separase plays a critical role in the maintenance of sister chromatid cohesion and genome stability in proliferating postmigratory primordial germ cells. ..
- Tao H, Shimizu M, Kusumoto R, Ono K, Noji S, Ohuchi H. A dual role of FGF10 in proliferation and coordinated migration of epithelial leading edge cells during mouse eyelid development. Development. 2005;132:3217-30 pubmed
- Damerla R, Cui C, Gabriel G, Liu X, Craige B, Gibbs B, et al. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. Hum Mol Genet. 2015;24:3994-4005 pubmed publisher..Our findings demonstrate JBTS17 is a cilia transition zone component that acts upstream of other Joubert syndrome associated transition zone proteins NPHP1 and CEP290, indicating its importance in the pathogenesis of Joubert syndrome. ..
- Burns R. Analysis of the gamma-tubulin sequences: implications for the functional properties of gamma-tubulin. J Cell Sci. 1995;108 ( Pt 6):2123-30 pubmed
- Chen J, Laclef C, Moncayo A, Snedecor E, Yang N, Li L, et al. The ciliopathy gene Rpgrip1l is essential for hair follicle development. J Invest Dermatol. 2015;135:701-709 pubmed publisher..This study indicates that RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog signaling pathway. ..
- Chen C, Hehnly H, Yu Q, Farkas D, Zheng G, Redick S, et al. A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation. Curr Biol. 2014;24:2327-2334 pubmed publisher..Not only do these data reveal a spindle-pole-localized complex for spindle orientation, but they identify key spindle symmetry proteins involved in the pathogenesis of MOPDII. ..
- Abdelhamed Z, Natarajan S, Wheway G, Inglehearn C, Toomes C, Johnson C, et al. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Dis Model Mech. 2015;8:527-41 pubmed publisher..Downstream therapeutic targeting of the Wnt5a-TMEM67-ROR2 axis might, therefore, reduce or prevent pulmonary hypoplasia in ciliopathies and other congenital conditions. ..
- Gai M, Bianchi F, Vagnoni C, Vernì F, Bonaccorsi S, Pasquero S, et al. ASPM and CITK regulate spindle orientation by affecting the dynamics of astral microtubules. EMBO Rep. 2016;17:1396-1409 pubmed..Finally, CITK regulates both astral-MT nucleation and stability. Our results provide a functional link between two established microcephaly proteins. ..
- Himmelstein D, Cajigas I, Bi C, Clark B, van der Voort G, Kohtz J. SHH E176/E177-Zn2+ conformation is required for signaling at endogenous sites. Dev Biol. 2017;424:221-235 pubmed publisher..Together, these results reveal a novel role for E177-Zn2+ in regulating SHH signaling that may involve critical, cilia basal-body localized changes in cross-linking and/or conformation. ..
- Ko H, Norman R, Tran J, Fuller K, Fukuda M, Eggenschwiler J. Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. Dev Cell. 2010;18:237-47 pubmed publisher..We propose that Bromi and CCRK control the structure of the primary cilium by coordinating assembly of the axoneme and ciliary membrane, allowing Gli proteins to be properly activated in response to Shh signaling. ..
- Song H, Hu J, Chen W, Elliott G, Andre P, Gao B, et al. Planar cell polarity breaks bilateral symmetry by controlling ciliary positioning. Nature. 2010;466:378-82 pubmed publisher..Our data suggest that PCP acts earlier than the unidirectional nodal flow during bilateral symmetry breaking in vertebrates and provide insight into the functional mechanism of PCP in organizing the vertebrate tissues in development. ..