Gene Review:
FLNA - filamin A, alpha
Homo sapiens
Synonyms:
ABP-280, ABPX, Actin-binding protein 280, Alpha-filamin, CSBS, ...
Carpén,
Satoh,
Kendrick-Jones,
Hayess,
Horne,
Yoshida,
Seck,
Schröder,
Tagariello,
Coca-Prados,
van der Ven,
Sutherland-Smith,
Twigg,
Himmel,
Fürst,
Machinis,
Robertson,
Nakatani,
Taivainen,
Sinico,
Biancalana,
Salmikangas,
Suri,
Stossel,
Horn,
Kim,
Nakamura,
Wiesner,
Munakata,
Encha-Razavi,
Kempa,
Amselem,
Honda,
Amemiya,
Hartwig,
Shears,
Walsh,
Zenker,
Kenwrick,
Ohta,
Kraus,
Ebina,
Winterpacht,
Elbez,
Gérard-Blanluet,
Orstavik,
Pacholsky,
Walter,
Schwartz,
Neal,
Quarrell,
Mage,
Gorlin,
Ratsimbazafy,
Brugières,
Sheen,
Morava,
O'Neill,
Sticht,
Rupprecht,
Newbury-Ecob,
Danan,
Suzuki,
Wilkie,
Reis,
Auerbach,
Berry,
Rauch,
Apse,
Suzuki,
Janaud,
Narumi,
Baron,
- A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. Colombani, M., Laurent, N., Le Merrer, M., Delezoide, A.L., Thauvin-Robinet, C., Huet, F., Sagot, P., Couvreur, S., Rousseau, T., Robertson, S.P., Faivre, L. Prenat. Diagn. (2006)
- Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. van der Ven, P.F., Wiesner, S., Salmikangas, P., Auerbach, D., Himmel, M., Kempa, S., Hayess, K., Pacholsky, D., Taivainen, A., Schröder, R., Carpén, O., Fürst, D.O. J. Cell Biol. (2000)
- A role for tissue factor in cell adhesion and migration mediated by interaction with actin-binding protein 280. Ott, I., Fischer, E.G., Miyagi, Y., Mueller, B.M., Ruf, W. J. Cell Biol. (1998)
- The small GTPase RalA targets filamin to induce filopodia. Ohta, Y., Suzuki, N., Nakamura, S., Hartwig, J.H., Stossel, T.P. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. Gérard-Blanluet, M., Sheen, V., Machinis, K., Neal, J., Apse, K., Danan, C., Sinico, M., Brugières, P., Mage, K., Ratsimbazafy, L., Elbez, A., Janaud, J.C., Amselem, S., Walsh, C., Encha-Razavi, F. Am. J. Med. Genet. A (2006)
- Verbal learning and memory in schizotypal personality disorder. Bergman, A.J., Harvey, P.D., Roitman, S.L., Mohs, R.C., Marder, D., Silverman, J.M., Siever, L.J. Schizophrenia bulletin. (1998)
- The prevalence of cyclothymia in borderline personality disorder. Levitt, A.J., Joffe, R.T., Ennis, J., MacDonald, C., Kutcher, S.P. The Journal of clinical psychiatry. (1990)
- Multivariate modelling and the Defence Mechanism Test: a comparative study of defensive structures in borderline, other personality disorders and schizophrenic disorder. Sundbom, E., Kullgren, G. Acta psychiatrica Scandinavica. (1992)
- Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. Tu, Y., Wu, S., Shi, X., Chen, K., Wu, C. Cell (2003)
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Robertson, S.P., Twigg, S.R., Sutherland-Smith, A.J., Biancalana, V., Gorlin, R.J., Horn, D., Kenwrick, S.J., Kim, C.A., Morava, E., Newbury-Ecob, R., Orstavik, K.H., Quarrell, O.W., Schwartz, C.E., Shears, D.J., Suri, M., Kendrick-Jones, J., Wilkie, A.O. Nat. Genet. (2003)
- Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Small, K., Iber, J., Warren, S.T. Nat. Genet. (1997)
- Association of dopamine D(3) receptors with actin-binding protein 280 (ABP-280). Li, M., Li, C., Weingarten, P., Bunzow, J.R., Grandy, D.K., Zhou, Q.Y. Biochem. Pharmacol. (2002)
- Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Sheen, V.L., Basel-Vanagaite, L., Goodman, J.R., Scheffer, I.E., Bodell, A., Ganesh, V.S., Ravenscroft, R., Hill, R.S., Cherry, T.J., Shugart, Y.Y., Barkovich, J., Straussberg, R., Walsh, C.A. Brain Dev. (2004)
- Acute vascular responses to isometric handgrip exercise and effects of training in persons medicated for hypertension. McGowan, C.L., Levy, A.S., Millar, P.J., Guzman, J.C., Morillo, C.A., McCartney, N., Macdonald, M.J. Am. J. Physiol. Heart Circ. Physiol. (2006)
- A folate- and methyl-deficient diet alters the expression of DNA methyltransferases and methyl CpG binding proteins involved in epigenetic gene silencing in livers of F344 rats. Ghoshal, K., Li, X., Datta, J., Bai, S., Pogribny, I., Pogribny, M., Huang, Y., Young, D., Jacob, S.T. J. Nutr. (2006)
- Downregulation of miR-122 in the rodent and human hepatocellular carcinomas. Kutay, H., Bai, S., Datta, J., Motiwala, T., Pogribny, I., Frankel, W., Jacob, S.T., Ghoshal, K. J. Cell. Biochem. (2006)
- A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Zenker, M., Rauch, A., Winterpacht, A., Tagariello, A., Kraus, C., Rupprecht, T., Sticht, H., Reis, A. Am. J. Hum. Genet. (2004)
- Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. Albano, L.M., Bertola, D.R., Barba, M.F., Valente, M., Robertson, S.P., Kim, C.A. Clin. Dysmorphol. (2007)
- Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Sheen, V.L., Jansen, A., Chen, M.H., Parrini, E., Morgan, T., Ravenscroft, R., Ganesh, V., Underwood, T., Wiley, J., Leventer, R., Vaid, R.R., Ruiz, D.E., Hutchins, G.M., Menasha, J., Willner, J., Geng, Y., Gripp, K.W., Nicholson, L., Berry-Kravis, E., Bodell, A., Apse, K., Hill, R.S., Dubeau, F., Andermann, F., Barkovich, J., Andermann, E., Shugart, Y.Y., Thomas, P., Viri, M., Veggiotti, P., Robertson, S., Guerrini, R., Walsh, C.A. Neurology (2005)
- Autosomal recessive form of periventricular heterotopia. Sheen, V.L., Topçu, M., Berkovic, S., Yalnizoglu, D., Blatt, I., Bodell, A., Hill, R.S., Ganesh, V.S., Cherry, T.J., Shugart, Y.Y., Walsh, C.A. Neurology (2003)
- Cytoskeletal protein ABP-280 directs the intracellular trafficking of furin and modulates proprotein processing in the endocytic pathway. Liu, G., Thomas, L., Warren, R.A., Enns, C.A., Cunningham, C.C., Hartwig, J.H., Thomas, G. J. Cell Biol. (1997)
- Interaction of presenilins with the filamin family of actin-binding proteins. Zhang, W., Han, S.W., McKeel, D.W., Goate, A., Wu, J.Y. J. Neurosci. (1998)
- Filamin A binding to the cytoplasmic tail of glycoprotein Ibalpha regulates von Willebrand factor-induced platelet activation. Feng, S., Reséndiz, J.C., Lu, X., Kroll, M.H. Blood (2003)
- Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha. Takafuta, T., Wu, G., Murphy, G.F., Shapiro, S.S. J. Biol. Chem. (1998)
- H2O2-induced filamin redistribution in endothelial cells is modulated by the cyclic AMP-dependent protein kinase pathway. Hastie, L.E., Patton, W.F., Hechtman, H.B., Shepro, D. J. Cell. Physiol. (1997)
- Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Gargiulo, A., Auricchio, R., Barone, M.V., Cotugno, G., Reardon, W., Milla, P.J., Ballabio, A., Ciccodicola, A., Auricchio, A. Am. J. Hum. Genet. (2007)
- Structure of three tandem filamin domains reveals auto-inhibition of ligand binding. Lad, Y., Kiema, T., Jiang, P., Pentikäinen, O.T., Coles, C.H., Campbell, I.D., Calderwood, D.A., Ylänne, J. EMBO J. (2007)
- Leucine-rich repeat region of decorin binds to filamin-A. Yoshida, K., Suzuki, Y., Honda, E., Amemiya, K., Nakatani, T., Ebina, M., Narumi, K., Satoh, K., Munakata, H. Biochimie (2002)
- Endogenous presenilin 1 redistributes to the surface of lamellipodia upon adhesion of Jurkat cells to a collagen matrix. Schwarzman, A.L., Singh, N., Tsiper, M., Gregori, L., Dranovsky, A., Vitek, M.P., Glabe, C.G., St George-Hyslop, P.H., Goldgaber, D. Proc. Natl. Acad. Sci. U.S.A. (1999)
- The Rac1- and RhoG-specific GEF domain of Trio targets filamin to remodel cytoskeletal actin. Bellanger, J.M., Astier, C., Sardet, C., Ohta, Y., Stossel, T.P., Debant, A. Nat. Cell Biol. (2000)
- Interaction of filamin A with the insulin receptor alters insulin-dependent activation of the mitogen-activated protein kinase pathway. He, H.J., Kole, S., Kwon, Y.K., Crow, M.T., Bernier, M. J. Biol. Chem. (2003)
- Binding of filamin to the C-terminal tail of the calcitonin receptor controls recycling. Seck, T., Baron, R., Horne, W.C. J. Biol. Chem. (2003)
- Filamin (280-kDa actin-binding protein) is a caspase substrate and is also cleaved directly by the cytotoxic T lymphocyte protease granzyme B during apoptosis. Browne, K.A., Johnstone, R.W., Jans, D.A., Trapani, J.A. J. Biol. Chem. (2000)
- Filamin-A fragment localizes to the nucleus to regulate androgen receptor and coactivator functions. Loy, C.J., Sim, K.S., Yong, E.L. Proc. Natl. Acad. Sci. U.S.A. (2003)
- Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. Lu, J., Tiao, G., Folkerth, R., Hecht, J., Walsh, C., Sheen, V. J. Comp. Neurol. (2006)
- MEKK4 Signaling Regulates Filamin Expression and Neuronal Migration. Sarkisian, M.R., Bartley, C.M., Chi, H., Nakamura, F., Hashimoto-Torii, K., Torii, M., Flavell, R.A., Rakic, P. Neuron (2006)
- FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner. Berry, F.B., O'Neill, M.A., Coca-Prados, M., Walter, M.A. Mol. Cell. Biol. (2005)
- Interaction with BRCA2 suggests a role for filamin-1 (hsFLNa) in DNA damage response. Yuan, Y., Shen, Z. J. Biol. Chem. (2001)
- Expression and subcellular distribution of filamin isotypes in endothelial cells and pericytes. Shojaee, N., Patton, W.F., Chung-Welch, N., Su, Q., Hechtman, H.B., Shepro, D. Electrophoresis (1998)
- Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits. van der Flier, A., Kuikman, I., Kramer, D., Geerts, D., Kreft, M., Takafuta, T., Shapiro, S.S., Sonnenberg, A. J. Cell Biol. (2002)
- Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28. Gorlin, J.B., Henske, E., Warren, S.T., Kunst, C.B., D'Urso, M., Palmieri, G., Hartwig, J.H., Bruns, G., Kwiatkowski, D.J. Genomics (1993)
- Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. van der Ven, P.F., Obermann, W.M., Lemke, B., Gautel, M., Weber, K., Fürst, D.O. Cell Motil. Cytoskeleton (2000)
- Identification of filamin as a novel ligand for caveolin-1: evidence for the organization of caveolin-1-associated membrane domains by the actin cytoskeleton. Stahlhut, M., van Deurs, B. Mol. Biol. Cell (2000)