1 | HRAS, KRAS, LZTR1, MRAS, NRAS
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| LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases.
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| Abe T, Umeki I, Kanno SI, Inoue SI, Niihori T, Aoki Y.
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| Cell Death Differ. Mar;27(3):1023-1035. doi: 10.1038/s41418-019-0395-5. Epub 2019 Jul 23 2020
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2 | LZTR1
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| The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking.
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| Sewduth RN, Pandolfi S, Steklov M, Sheryazdanova A, Zhao P, Criem N, Baietti MF, Lechat B, Quarck R, Impens F, Sablina AA.
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| Circ Res. May 8;126(10):1379-1393. doi: 10.1161/CIRCRESAHA.119.315730. Epub 2020 Mar 16 2020
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3 | LZTR1, NS10, NS9, SOS2
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| Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
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| Capri Y, Flex E, Krumbach OHF, Carpentieri G, Cecchetti S, Lißewski C, Rezaei Adariani S, Schanze D, Brinkmann J, Piard J, Pantaleoni F, Lepri FR, Goh ES, Chong K, Stieglitz E, Meyer J, Kuechler A, Bramswig NC, Sacharow S, Strullu M, Vial Y, Vignal C, Kensah G, Cuturilo G, Kazemein Jasemi NS, Dvorsky R, Monaghan KG, Vincent LM, Cavé H, Verloes A, Ahmadian MR, Tartaglia M, Zenker M.
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| Am J Hum Genet 104(6):1223-1232. doi: 10.1016/j.ajhg.2019.04.013. Epub 2019 May 23.
2019
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4 | LZTR1, NS10
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| Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexe
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| Umeki I, Niihori T, Abe T, Kanno SI, Okamoto N, Mizuno S, Kurosawa K, Nagasaki K, Yoshida M, Ohashi H, Inoue SI, Matsubara Y, Fujiwara I, Kure S, Aoki Y.
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| Hum Genet. Jan;138(1):21-35. doi: 10.1007/s00439-018-1951-7. Epub 2018 Oct 27 2019
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5 | LZTR1, RIT1
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| RIT1 oncoproteins escape LZTR1-mediated proteolysis.
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| Castel P, Cheng A, Cuevas-Navarro A, Everman DB, Papageorge AG, Simanshu DK, Tankka A, Galeas J, Urisman A, McCormick F.
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| Science Mar 15;363(6432):1226-1230. doi: 10.1126/science.aav1444 2019
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6 | LZTR1, NS10
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| Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
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| Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M.
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| Hum Mol Genet. Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412 2019
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7 | HRAS, KRAS, LZTR1
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| LZTR1 is a regulator of RAS ubiquitination and signaling.
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| Bigenzahn JW, Collu GM, Kartnig F, Pieraks M, Vladimer GI, Heinz LX, Sedlyarov V, Schischlik F, Fauster A, Rebsamen M, Parapatics K, Blomen VA, Müller AC, Winter GE, Kralovics R, Brummelkamp TR, Mlodzik M, Superti-Furga G.
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| Science Dec 7;362(6419):1171-1177. doi: 10.1126/science.aap8210. Epub 2018 Nov 15 2018
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8 | LZTR1, NS10
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| LZTR1: Genotype Expansion in Noonan Syndrome.
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| Güemes M, Martín-Rivada Á, Ortiz-Cabrera NV, Martos-Moreno GÁ, Pozo-Román J, Argente J.
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| Genet Med. Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22 2018
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9 | LZTR1, NS10
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| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
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| Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG.
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| Genet Med. Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22 2018
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10 | LZTR1
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| Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
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| Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM.
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| Nat Genet. Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22 2014
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11 | LZTR1
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| The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.
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| Nacak TG, Leptien K, Fellner D, Augustin HG, Kroll J.
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| J Biol Chem 281(8):5065-71. Epub 2005 Dec 15. 2006
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12 | LZTR1
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| Isolation and characterization of a novel gene deleted in DiGeorge syndrome.
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| Kurahashi H, et al.
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| Hum Mol Genet 4 : 541-549. 1995
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