Genomes and Genes
Experts and Doctors on cytoskeletal proteins in Iowa City, Iowa, United States
Locale: Iowa City, Iowa, United States
Topic: cytoskeletal proteins
- Monick M, Carter A, Robeff P, Flaherty D, Peterson M, Hunninghake G. Lipopolysaccharide activates Akt in human alveolar macrophages resulting in nuclear accumulation and transcriptional activity of beta-catenin. J Immunol. 2001;166:4713-20 pubmed..This is the first demonstration that LPS exposure activates AKT, inactivates GSK-3, and causes accumulation and transcriptional activity of beta-catenin in the nucleus of any cell, including alveolar macrophages. ..
- Wemmie J, Moye Rowley W. Mutational analysis of the Saccharomyces cerevisiae ATP-binding cassette transporter protein Ycf1p. Mol Microbiol. 1997;25:683-94 pubmed..These studies indicate that Ycf1p will provide a simple, genetically tractable model system for the study of the trafficking and function of ATP-binding cassette transporter proteins, such as the CFTR and MRP. ..
- Sinn H, Balsamo J, Lilien J, Lin J. Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development. Dev Dyn. 2002;225:1-13 pubmed..Furthermore, temporal and spatial expressions of Xin in relation to intercalated disc proteins and thin filament proteins suggest roles for Xin in the formation of cell-cell contacts and possibly in myofibrillogenesis. ..
- Kanagawa M, Saito F, Kunz S, Yoshida Moriguchi T, Barresi R, Kobayashi Y, et al. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell. 2004;117:953-64 pubmed..Therefore, molecular recognition of dystroglycan by LARGE is a key determinant in the biosynthetic pathway to produce mature and functional dystroglycan. ..
- Holt K, Lim L, Straub V, Venzke D, Duclos F, Anderson R, et al. Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using delta-sarcoglycan gene transfer. Mol Cell. 1998;1:841-8 pubmed..In summary, the sarcoglycan complex is requisite for the maintenance of sarcolemmal integrity, and primary mutations in individual sarcoglycan components can be corrected in vivo. ..
- Fingert J, Stone E, Sheffield V, Alward W. Myocilin glaucoma. Surv Ophthalmol. 2002;47:547-61 pubmed..Clinical vignettes of POAG patients from four generations of a family harboring the TYR437HIS myocilin mutation are presented, highlighting the benefits of elucidating the genetics of glaucoma. ..
- Westfall T, Hjertos B, Slusarski D. Requirement for intracellular calcium modulation in zebrafish dorsal-ventral patterning. Dev Biol. 2003;259:380-91 pubmed..These results provide evidence that modulation of calcium release is critical for early embryonic patterning and acts by influencing the stabilization of beta-catenin protein. ..
- Coral Vazquez R, Cohn R, Moore S, Hill J, Weiss R, Davisson R, et al. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999;98:465-74 pubmed..Our data indicate that disruption of the SG-SSPN complex in vascular smooth muscle perturbs vascular function, which initiates cardiomyopathy and exacerbates muscular dystrophy. ..
- Crosbie R, Lim L, Moore S, Hirano M, Hays A, Maybaum S, et al. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Hum Mol Genet. 2000;9:2019-27 pubmed..These findings are important as they contribute to a greater understanding of the structural determinants required for proper sarcoglycan-sarcospan expression and function. ..
- Cohn R, Henry M, Michele D, Barresi R, Saito F, Moore S, et al. Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell. 2002;110:639-48 pubmed..Therefore, inadequate repair of skeletal muscle by satellite cells represents an important mechanism affecting the pathogenesis of muscular dystrophy. ..
- Durbeej M, Campbell K. Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. Curr Opin Genet Dev. 2002;12:349-61 pubmed
- Ohlendieck K, Campbell K. Dystrophin-associated proteins are greatly reduced in skeletal muscle from mdx mice. J Cell Biol. 1991;115:1685-94 pubmed
- Yang B, Ibraghimov Beskrovnaya O, Moomaw C, Slaughter C, Campbell K. Heterogeneity of the 59-kDa dystrophin-associated protein revealed by cDNA cloning and expression. J Biol Chem. 1994;269:6040-4 pubmed..Our results suggest that the 59-DAP triplet may contain different protein species and that the 59-1 DAP may associate more specifically with dystrophin than with utrophin. ..
- Jung D, Yang B, Meyer J, Chamberlain J, Campbell K. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. J Biol Chem. 1995;270:27305-10 pubmed
- Alward W, Fingert J, Coote M, Johnson A, Lerner S, Junqua D, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med. 1998;338:1022-7 pubmed..A variety of mutations in the GLC1A gene are associated with glaucoma. The spectrum of disease can range from juvenile glaucoma to typical late-onset primary open-angle glaucoma. ..
- Jung D, Leturcq F, Sunada Y, Duclos F, Tome F, Moomaw C, et al. Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett. 1996;381:15-20 pubmed..In addition, we show that in normal muscle alpha-, beta-, and gamma-sarcoglycan constitute a tightly associated sarcolemma complex which cannot be disrupted by SDS treatment. ..
- Hall D, Davare M, Shi M, Allen M, Weisenhaus M, McKnight G, et al. Critical role of cAMP-dependent protein kinase anchoring to the L-type calcium channel Cav1.2 via A-kinase anchor protein 150 in neurons. Biochemistry. 2007;46:1635-46 pubmed..These results demonstrate the physiological relevance of PKA anchoring by AKAPs in general and AKAP150 specifically in the regulation of Cav1.2 in vivo. ..
- Roberds S, Anderson R, Ibraghimov Beskrovnaya O, Campbell K. Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin). J Biol Chem. 1993;268:23739-42 pubmed..Finally, 50-DAG mRNA is present in mdx and Duchenne muscular dystrophy (DMD) muscle, indicating that the down-regulation of this protein in DMD and the mdx mouse is likely a post-translational event. ..
- Swiderski R, Ying L, Cassell M, Alward W, Stone E, Sheffield V. Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Res Mol Brain Res. 1999;68:64-72 pubmed
- Chunthapong J, Seftor E, Khalkhali Ellis Z, Seftor R, Amir S, Lubaroff D, et al. Dual roles of E-cadherin in prostate cancer invasion. J Cell Biochem. 2004;91:649-61 pubmed..These results suggest that E-cadherin plays an important role in regulating the invasive potential of prostate cancer cells through an unique paracrine mechanism. ..
- CASSEL S, Eisenbarth S, Iyer S, Sadler J, Colegio O, Tephly L, et al. The Nalp3 inflammasome is essential for the development of silicosis. Proc Natl Acad Sci U S A. 2008;105:9035-40 pubmed publisher..This study demonstrates a key role for the Nalp3 inflammasome in the pathogenesis of pneumoconiosis. ..
- Straub V, Ettinger A, Durbeej M, Venzke D, Cutshall S, Sanes J, et al. epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. J Biol Chem. 1999;274:27989-96 pubmed..Our results also suggest a molecular basis for possible differential smooth muscle dysfunction in sarcoglycan-deficient patients. ..
- Matsumura K, Tome F, Collin H, Azibi K, Chaouch M, Kaplan J, et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature. 1992;359:320-2 pubmed..Therefore, the loss of this glycoprotein is a common denominator of the pathological process leading to muscle cell necrosis in two forms of muscular dystrophy, DMD and SCARMD. ..
- Alward W, Kwon Y, Khanna C, Johnson A, Hayreh S, Zimmerman M, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol. 2002;120:1189-97 pubmed..mt1 promoter polymorphism were no different from those with the more common variant in any measure of disease severity. Testing for the MYOC.mt1 promoter polymorphism appears to be of no value in the evaluation of patients with glaucoma. ..
- Duclos F, Straub V, Moore S, Venzke D, Hrstka R, Crosbie R, et al. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. J Cell Biol. 1998;142:1461-71 pubmed..The Sgca-deficient mice will be a valuable model for elucidating the pathogenesis of sarcoglycan deficient limb-girdle muscular dystrophies and for the development of therapeutic strategies for this disease. ..
- Hildebrand M, Witmer P, Xu S, Newton S, Kahrizi K, Najmabadi H, et al. miRNA mutations are not a common cause of deafness. Am J Med Genet A. 2010;152A:646-52 pubmed publisher..These results suggest that mutations disrupting gene regulation by the miR-183 cluster are not a common cause of human hearing loss. ..
- Wen K, Rubenstein P. Differential regulation of actin polymerization and structure by yeast formin isoforms. J Biol Chem. 2009;284:16776-83 pubmed publisher..These differences may facilitate the ability of Bnr1 to form the actin cables needed for polarized delivery of nutrients and organelles to the growing yeast bud. ..
- Xu G, Craig A, Greer P, Miller M, Anastasiadis P, Lilien J, et al. Continuous association of cadherin with beta-catenin requires the non-receptor tyrosine-kinase Fer. J Cell Sci. 2004;117:3207-19 pubmed..Expression of wild-type Fer or culture in epidermal growth factor restores the cadherin complex and localization at cell-cell contacts. ..
- Matsumura K, Ervasti J, Ohlendieck K, Kahl S, Campbell K. Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature. 1992;360:588-91 pubmed..Because these muscles show minimal pathological changes, our results could provide a basis for the upregulation of DRP as a potential therapeutic approach. ..
- Hutchings N, Donelson J, Hill K. Trypanin is a cytoskeletal linker protein and is required for cell motility in African trypanosomes. J Cell Biol. 2002;156:867-77 pubmed publisher..These results indicate that trypanin functions as a cytoskeletal linker protein and offer insights into the mechanisms of flagellum-based cell motility...
- Yang B, Jung D, Motto D, Meyer J, Koretzky G, Campbell K. SH3 domain-mediated interaction of dystroglycan and Grb2. J Biol Chem. 1995;270:11711-4 pubmed..The specific dystroglycan-Grb2 interaction may play an important role in extracellular matrix-mediated signal transduction and/or cytoskeleton organization in skeletal muscle that may be essential for muscle cell viability. ..
- Cohn R, Durbeej M, Moore S, Coral Vazquez R, Prouty S, Campbell K. Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex. J Clin Invest. 2001;107:R1-7 pubmed
- Yang B, Jung D, Rafael J, Chamberlain J, Campbell K. Identification of alpha-syntrophin binding to syntrophin triplet, dystrophin, and utrophin. J Biol Chem. 1995;270:4975-8 pubmed..Our data suggest that alpha-syntrophin binds all syntrophin isoforms, and syntrophin directly interacts with dystrophin through more than one binding site in dystrophin exons 73 and 74 including amino acids 3447-3481...
- Duclos F, Broux O, Bourg N, Straub V, Feldman G, Sunada Y, et al. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromuscul Disord. 1998;8:30-8 pubmed..Interestingly, in addition to the loss of the entire sarcoglycan complex, we detected a reduction of alpha-dystroglycan which suggests a role for the sarcoglycan complex in stabilizing alpha-dystroglycan at the sarcolemma. ..
- Baldwin A, Clemons A, Phillips B. Unique and redundant Î²-catenin regulatory roles of two Dishevelled paralogs during C. elegans asymmetric cell division. J Cell Sci. 2016;129:983-93 pubmed publisher..Overall, we have further defined the role of Dishevelled in the WÎ²A signaling pathway, and demonstrated that DSH-2 and MIG-5 regulate cell fate, Î²-catenin nuclear levels and the polarity of Î²-catenin regulation. ..
- CASSEL S, Janczy J, Bing X, Wilson S, Olivier A, Otero J, et al. Inflammasome-independent IL-1? mediates autoinflammatory disease in Pstpip2-deficient mice. Proc Natl Acad Sci U S A. 2014;111:1072-7 pubmed publisher..These data provide a rationale for directly targeting IL-1RI or IL-1? as a therapeutic strategy in CRMO. ..
- Wen K, McKane M, Rubenstein P. Importance of a Lys113-Glu195 intermonomer ionic bond in F-actin stabilization and regulation by yeast formins Bni1p and Bnr1p. J Biol Chem. 2013;288:19140-53 pubmed publisher..In summary, the proposed ionic interaction plays an important role in filament stabilization and in the propagation of allosteric changes affecting formin regulation in an isoform-specific fashion. ..
- Fingert J, Roos B, Eyestone M, Pham J, Mellot M, Stone E. Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus. Ophthalmic Genet. 2010;31:77-80 pubmed publisher..Here we show for the first time that large intragenic deletions of FRMD7 can also cause this form of nystagmus. ..
- Weiss D. Bacterial cell division and the septal ring. Mol Microbiol. 2004;54:588-97 pubmed..Finally, two murein hydrolases, AmiC and EnvC, have been shown to localize to the septal ring of Escherichia coli, where they play an important role in separation of daughter cells. ..
- Jung D, Duclos F, Apostol B, Straub V, Lee J, Allamand V, et al. Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J Biol Chem. 1996;271:32321-9 pubmed..Furthermore, we have mapped the human delta-sarcoglycan gene to chromosome 5q33-q34 in a region overlapping the recently linked autosomal recessive LGMD2F locus. ..
- Chen J, Lacomis L, Erdjument Bromage H, Tempst P, Stamnes M. Cytosol-derived proteins are sufficient for Arp2/3 recruitment and ARF/coatomer-dependent actin polymerization on Golgi membranes. FEBS Lett. 2004;566:281-6 pubmed..These results show that activated ARF1 can stimulate Arp2/3 recruitment to Golgi membranes through coatomer, Cdc42 or Rac, and N-WASP...
- Crosbie R, Lebakken C, Holt K, Venzke D, Straub V, Lee J, et al. Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex. J Cell Biol. 1999;145:153-65 pubmed..In addition, the SG- SPN subcomplex functions to stabilize alpha-dystroglycan to the muscle plasma membrane. Taken together, our data provide important information about assembly and function of the SG-SPN subcomplex. ..
- Fingert J, Heon E, Liebmann J, Yamamoto T, Craig J, Rait J, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999;8:899-905 pubmed
- Chao S, Nagoshi R. Induction of apoptosis in the germline and follicle layer of Drosophila egg chambers. Mech Dev. 1999;88:159-72 pubmed..Germ cells degenerating as a normal consequence of oogenesis displayed a similar set of phenotypes, suggesting that a common apoptotic mechanism may underlie these different germline death phenomena. ..
- Crosbie R, Barresi R, Campbell K. Loss of sarcolemma nNOS in sarcoglycan-deficient muscle. FASEB J. 2002;16:1786-91 pubmed..Our data suggest that loss of nNOS may contribute to muscle pathology in AR-LGMD with primary mutations in the sarcoglycans. ..
- Xu G, Arregui C, Lilien J, Balsamo J. PTP1B modulates the association of beta-catenin with N-cadherin through binding to an adjacent and partially overlapping target site. J Biol Chem. 2002;277:49989-97 pubmed..Thus, interaction of PTP1B with N-cadherin is essential for its association with beta-catenin, stable expression at the cell surface, and consequently, cadherin function. ..
- Zode G, Bugge K, Mohan K, Grozdanic S, Peters J, Koehn D, et al. Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2012;53:1557-65 pubmed publisher..Topical ocular PBA could become a novel treatment for POAG patients with myocilin mutations. ..
- Crosbie R, Dovico S, Flanagan J, Chamberlain J, Ownby C, Campbell K. Characterization of aquaporin-4 in muscle and muscular dystrophy. FASEB J. 2002;16:943-9 pubmed..Taken together, our data demonstrate that AQP4 loss in skeletal muscle correlates with muscular dystrophy and is a common feature of pathogenesis. ..
- Barresi R, Moore S, Stolle C, Mendell J, Campbell K. Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. J Biol Chem. 2000;275:38554-60 pubmed..Taken together, our results prove that the sarcoglycan complex in vascular and visceral smooth muscle consists of epsilon-, beta-, gamma-, and delta-sarcoglycans and is associated with sarcospan. ..
- Roberds S, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson R, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 1994;78:625-33 pubmed..Furthermore, missense mutations were identified within the adhalin gene that might cause SCARMD in this family. Thus, the adhalin gene is involved in at least one form of autosomal recessive muscular dystrophy. ..
- Hill K, Hutchings N, Grandgenett P, Donelson J. T lymphocyte-triggering factor of african trypanosomes is associated with the flagellar fraction of the cytoskeleton and represents a new family of proteins that are present in several divergent eukaryotes. J Biol Chem. 2000;275:39369-78 pubmed..These findings suggest that TLTF represents a newly defined protein family, whose members contribute to cytoskeleton function in species as diverse as protozoa and mammals. ..
- Barresi R, Michele D, Kanagawa M, Harper H, Dovico S, Satz J, et al. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. 2004;10:696-703 pubmed..Our findings indicate that modulation of LARGE expression or activity is a viable therapeutic strategy for glycosyltransferase-deficient congenital muscular dystrophies. ..
- Westfall T, Brimeyer R, Twedt J, Gladon J, Olberding A, Furutani Seiki M, et al. Wnt-5/pipetail functions in vertebrate axis formation as a negative regulator of Wnt/beta-catenin activity. J Cell Biol. 2003;162:889-98 pubmed..The Wnt-5 loss-of-function defect is consistent with Ca2+ modulation having an antagonistic interaction with Wnt/beta-catenin signaling. ..
- Fingert J, Ying L, Swiderski R, Nystuen A, Arbour N, Alward W, et al. Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res. 1998;8:377-84 pubmed..The comparison of the human and mouse GLC1A genes suggests that the mouse may be a useful model organism in studying the molecular pathophysiology of glaucoma. ..
- Ferguson P, Bing X, Vasef M, Ochoa L, Mahgoub A, Waldschmidt T, et al. A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone. 2006;38:41-7 pubmed..These data suggest that mutations in pstpip2 may be the genetic explanation for the autoinflammatory phenotype seen in the cmo mouse. ..
- Ibraghimov Beskrovnaya O, Milatovich A, Ozcelik T, Yang B, Koepnick K, Francke U, et al. Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum Mol Genet. 1993;2:1651-7 pubmed..Therefore, we hypothesize that variable glycosylation of the conserved protein core might modulate laminin binding. The relationship of dystroglycan to human diseases is discussed. ..
- Moore S, Saito F, Chen J, Michele D, Henry M, Messing A, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 2002;418:422-5 pubmed..Our data strongly support the hypothesis that defects in dystroglycan are central to the pathogenesis of structural and functional brain abnormalities seen in CMD. ..
- Zode G, Kuehn M, Nishimura D, Searby C, Mohan K, Grozdanic S, et al. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest. 2011;121:3542-53 pubmed publisher..These results demonstrate that ER stress is linked to the pathogenesis of POAG and may be a target for treatment in human patients. ..
- Filali M, Cheng N, Abbott D, Leontiev V, Engelhardt J. Wnt-3A/beta-catenin signaling induces transcription from the LEF-1 promoter. J Biol Chem. 2002;277:33398-410 pubmed..In summary, these results provide evidence for transcriptional regulation of the LEF-1 promoter by Wnt and enhance the mechanistic understanding of Wnt/beta-catenin signaling in the regulation of LEF-1-dependent developmental processes. ..
- Saito F, Moore S, Barresi R, Henry M, Messing A, Ross Barta S, et al. Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization. Neuron. 2003;38:747-58 pubmed..Dystroglycan may be required for the normal maintenance of voltage-gated sodium channels at nodes of Ranvier, possibly by mediating trans interactions between Schwann cell microvilli and the nodal axolemma. ..
- Shasby D, Ries D, Shasby S, Winter M. Histamine stimulates phosphorylation of adherens junction proteins and alters their link to vimentin. Am J Physiol Lung Cell Mol Physiol. 2002;282:L1330-8 pubmed..Within 60 s, histamine simulated a doubling in the phosphorylation of VE-cadherin and beta- and gamma-catenin. The VE-cadherin immunoprecipitate contained kinase activity that phosphorylated VE-cadherin and gamma-catenin in vitro. ..
- Michele D, Barresi R, Kanagawa M, Saito F, Cohn R, Satz J, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002;418:417-22 pubmed
- Arachchige Don A, Dallapiazza R, Bennin D, Brake T, Cowan C, Horne M. Cyclin G2 is a centrosome-associated nucleocytoplasmic shuttling protein that influences microtubule stability and induces a p53-dependent cell cycle arrest. Exp Cell Res. 2006;312:4181-204 pubmed
- Straub V, Duclos F, Venzke D, Lee J, Cutshall S, Leveille C, et al. Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster. Am J Pathol. 1998;153:1623-30 pubmed..6 hamster. Based on our results, we propose that loss of delta-sarcoglycan results in the impairment of sarcolemmal integrity, finally leading to muscular dystrophy and cardiomyopathy. ..