Citations for
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
Schneider R, Deutsch K, Hoeprich GJ, Marquez J, Hermle T, Braun DA, Seltzsam S, Kitzler TM, Mao Y, Buerger F, Majmundar AJ, Onuchic-Whitford AC, Kolvenbach CM, Schierbaum L, Schneider S, Halawi AA, Nakayama M, Mann N, Connaughton DM, Klämbt V, Wagner M, Riedhammer KM, Renders L, Katsura Y, Thumkeo D, Soliman NA, Mane S, Lifton RP, Shril S, Khokha MK, Hoefele J, Goode BL, Hildebrandt F.
Am J Hum Genet. Dec 3;107(6):1113-1128. doi: 10.1016/j.ajhg.2020.11.008. Epub 2020 Nov 23 2020
Dysregulation of INF2-mediated mitochondrial fission in SPOP-mutated prostate cancer.
Jin X, Wang J, Gao K, Zhang P, Yao L, Tang Y, Tang L, Ma J, Xiao J, Zhang E, Zhu J, Zhang B, Zhao SM, Li Y, Ren S, Huang H, Yu L, Wang C.
PLoS Genet 13(4):e1006748. doi: 10.1371/journal.pgen.1006748. [Epub ahead of print] 2017
Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.
Challis RC, Ring T, Xu Y, Wong EK, Flossmann O, Roberts IS, Ahmed S, Wetherall M, Salkus G, Brocklebank V, Fester J, Strain L, Wilson V, Wood KM, Marchbank KJ, Santibanez-Koref M, Goodship TH, Kavanagh D.
J Am Soc Nephrol Am Soc Nephrol. 2016 Dec 14. pii: ASN.2015101189. [Epub ahead of print] 2016
Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury.
Subramanian B, Sun H, Yan P, Charoonratana VT, Higgs HN, Wang F, Lai KM, Valenzuela DM, Brown EJ, Schlöndorff JS, Pollak MR.
Kidney Int 90(2):363-72. doi: 10.1016/j.kint.2016.04.020. 2016
Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.
Rood IM, Bongers EM, Lugtenberg D, Klein IH, Steenbergen EJ, Wetzels JF, Deegens JK.
Neth J Med 74(2):82-5. 2016
The formins FHOD1 and INF2 regulate inter- and intra-structural contractility of podosomes.
Panzer L, Trübe L, Klose M, Joosten B, Slotman J, Cambi A, Linder S.
J Cell Sci 129(2):298-313. doi: 10.1242/jcs.177691. 2016
Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.
Tamura H, Nakazato H, Kuraoka S, Yoneda K, Takahashi W, Endo F.
Nephrology (Carlton) 21(6):467-75. doi: 10.1111/nep.12627. 2016
A mitochondria-anchored isoform of the actin-nucleating spire protein regulates mitochondrial division.
Manor U, Bartholomew S, Golani G, Christenson E, Kozlov M, Higgs H, Spudich J, Lippincott-Schwartz J.
Elife 4. doi: 10.7554/eLife.08828. 2015
Assembly and turnover of short actin filaments by the formin INF2 and profilin.
Gurel PS, A M, Guo B, Shu R, Mierke DF, Higgs HN.
J Biol Chem 290(37):22494-506. doi: 10.1074/jbc.M115.670166. 2015
Inverted formin 2 in focal adhesions promotes dorsal stress fiber and fibrillar adhesion formation to drive extracellular matrix assembly.
Skau CT, Plotnikov SV, Doyle AD, Waterman CM.
Proc Natl Acad Sci U S A 112(19):E2447-56. doi: 10.1073/pnas.1505035112. 2015
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J.
J Peripher Nerv Syst 20(1):52-9. doi: 10.1111/jns.12106. 2015
Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.
Mathis S, Funalot B, Boyer O, Lacroix C, Marcorelles P, Magy L, Richard L, Antignac C, Vallat JM.
J Neuropathol Exp Neurol 73(3):223-33. doi: 10.1097/NEN.0000000000000047. 2014
Centrosome polarization in T cells: a task for formins.
Andrés-Delgado L, Antón OM, Alonso MA.
Front Immunol 4:191. doi: 10.3389/fimmu.2013.00191. eCollection 2013. 2013
Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction.
Ramabhadran V, Hatch AL, Higgs HN.
J Biol Chem 288(37):26847-55. doi: 10.1074/jbc.M113.472415. 2013
An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2.
Korobova F, Ramabhadran V, Higgs HN.
Science 339(6118):464-7. doi: 10.1126/science.1228360. 2013
Mutations to the formin homology 2 domain of INF2 protein have unexpected effects on actin polymerization and severing.
Ramabhadran V, Gurel PS, Higgs HN.
J Biol Chem 287(41):34234-45. doi: 10.1074/jbc.M112.365122. Epub 2012 Aug 9. 2012
The C terminus of formin FMNL3 accelerates actin polymerization and contains a WH2 domain-like sequence that binds both monomers and filament barbed ends.
Heimsath EG Jr, Higgs HN.
J Biol Chem 287(5):3087-98. doi: 10.1074/jbc.M111.312207. Epub 2011 Nov 17. 2012
INF2 promotes the formation of detyrosinated microtubules necessary for centrosome reorientation in T cells.
Andrés-Delgado L, Antón OM, Bartolini F, Ruiz-Sáenz A, Correas I, Gundersen GG, Alonso MA.
J Cell Biol 198(6):1025-37. doi: 10.1083/jcb.201202137. 2012
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G.
N Engl J Med 365(25):2377-88. doi: 10.1056/NEJMoa1109122. 2011
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR.
Nat Genet 42(1):72-6. Epub 2009 Dec 20. 2010
INF2 is an endoplasmic reticulum-associated formin protein.
Chhabra ES, Ramabhadran V, Gerber SA, Higgs HN.
J Cell Sci 122(Pt 9):1430-40. Epub 2009 Apr 14.PMID: 19366733 2009
INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization.
Chhabra ES, Higgs HN.
J Biol Chem 281(36):26754-67. Epub 2006 Jul 3. 2006
Phylogenetic analysis of the formin homology 2 domain.
Higgs HN, Peterson KJ.
Mol Biol Cell 16(1):1-13. Epub 2004 Oct 27. 2005
Formin' new ideas about actin filament generation.
Bindschadler M, McGrath JL.
Proc Natl Acad Sci U S A 101(41):14685-6. Epub 2004 Oct 4. No abstract available. 2004