| Oncogenic mutations of KRAS modulate its turnover by the CUL3/LZTR1 E3 ligase complex. | Oncogenic mutations of KRAS modulate its turnover by the CUL3/LZTR1 E3 ligase complex.
Damianou A, Liang Z, Lassen F, Vendrell I, Vere G, Hester S, Charles PD, Pinto-Fernandez A, Santos A, Fischer R, Kessler BM., Free PMC Article | 08/1/2024 |
| Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome. | Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome.
Busley AV, Gutiérrez-Gutiérrez Ó, Hammer E, Koitka F, Mirzaiebadizi A, Steinegger M, Pape C, Böhmer L, Schroeder H, Kleinsorge M, Engler M, Cirstea IC, Gremer L, Willbold D, Altmüller J, Marbach F, Hasenfuss G, Zimmermann WH, Ahmadian MR, Wollnik B, Cyganek L. | 07/31/2024 |
| Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities. | Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities.
Yu QX, Zhen L, Lin XM, Wen YJ, Li DZ. | 01/3/2024 |
| Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. | Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Wilcox N, Dumont M, González-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, Luccarini C, Soucy P, Dubois S, Nuñez-Torres R, Pita G, Gardner EJ, Dennis J, Alonso MR, Álvarez N, Baynes C, Collin-Deschesnes AC, Desjardins S, Becher H, Behrens S, Bolla MK, Castelao JE, Chang-Claude J, Cornelissen S, Dörk T, Engel C, Gago-Dominguez M, Guénel P, Hadjisavvas A, Hahnen E, Hartman M, Herráez B, SGBCC Investigators, Jung A, Keeman R, Kiechle M, Li J, Loizidou MA, Lush M, Michailidou K, Panayiotidis MI, Sim X, Teo SH, Tyrer JP, van der Kolk LE, Wahlström C, Wang Q, Perry JRB, Benitez J, Schmidt MK, Schmutzler RK, Pharoah PDP, Droit A, Dunning AM, Kvist A, Devilee P, Easton DF, Simard J., Free PMC Article | 10/19/2023 |
| Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation. | Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H., Free PMC Article | 08/9/2023 |
| LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL. | LZTR1 Mutation Mediates Oncogenesis through Stabilization of EGFR and AXL.
Ko A, Hasanain M, Oh YT, D'Angelo F, Sommer D, Frangaj B, Tran S, Bielle F, Pollo B, Paterra R, Mokhtari K, Soni RK, Peyre M, Eoli M, Papi L, Kalamarides M, Sanson M, Iavarone A, Lasorella A. | 03/6/2023 |
| LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis. | LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM, Thain E, Barnett-Tapia C, Sadeghian H, Kim RH., Free PMC Article | 09/3/2022 |
| Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes. | Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Perez-Becerril C, Evans DG, Smith MJ. | 07/16/2022 |
| The GSK3 kinase and LZTR1 protein regulate the stability of Ras family proteins and the proliferation of pancreatic cancer cells. | The GSK3 kinase and LZTR1 protein regulate the stability of Ras family proteins and the proliferation of pancreatic cancer cells.
Palanivel C, Chaudhary N, Seshacharyulu P, Cox JL, Yan Y, Batra SK, Ouellette MM., Free PMC Article | 04/16/2022 |
| Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1. | Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
Uludağ Alkaya D, Lissewski C, Yeşil G, Zenker M, Tüysüz B. | 03/5/2022 |
| A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review. | A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.
Zhao X, Li Z, Wang L, Lan Z, Lin F, Zhang W, Su Z., Free PMC Article | 10/9/2021 |
| Sporadic vestibular schwannoma: a molecular testing summary. | Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV, Bowers NL, Hartley C, Smith PT, Tobi S, Wallace AJ, King A, Lloyd SKW, Rutherford S, Pathmanaban ON, Hammerbeck-Ward C, Freeman S, Stapleton E, Taylor A, Shaw A, Halliday D, Smith MJ, Evans DG. | 09/4/2021 |
| LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases. | LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases.
Abe T, Umeki I, Kanno SI, Inoue SI, Niihori T, Aoki Y., Free PMC Article | 07/3/2021 |
| LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features. | LZTR1-Related Hypertrophic Cardiomyopathy Without Typical Noonan Syndrome Features.
Jenkins J, Barnes A, Birnbaum B, Papagiannis J, Thiffault I, Saunders CJ. | 06/5/2021 |
| Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients. | Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Bianchessi D, Ibba MC, Saletti V, Blasa S, Langella T, Paterra R, Cagnoli GA, Melloni G, Scuvera G, Natacci F, Cesaretti C, Finocchiaro G, Eoli M., Free PMC Article | 03/20/2021 |
| Providing more evidence on LZTR1 variants in Noonan syndrome patients. | Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J, Huckstadt V, Mucciolo M, Lepri F, Novelli A, Gravina LP, Obregon MG. | 01/16/2021 |
| Oligo-astrocytoma in LZTR1-related Noonan syndrome. | Oligo-astrocytoma in LZTR1-related Noonan syndrome.
Jacquinet A, Bonnard A, Capri Y, Martin D, Sadzot B, Bianchi E, Servais L, Sacré JP, Cavé H, Verloes A. | 10/3/2020 |
| Parallel sequencing of 22q11.2 region in patients with bladder exstrophy-epispadias complex (BEEC) without 22q11.2 microduplication identified a novel variant in LZTR1 p.Ser698Phe that displayed altered concentration and mobility in live cells, suggesting LZTR1 as a candidate gene underlying the urogenital malformation. | Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
Lundin J, Markljung E, Baranowska Körberg I, Hofmeister W, Cao J, Nilsson D, Holmdahl G, Barker G, Anderberg M, Vukojević V, Lindstrand A, Nordenskjöld A., Free PMC Article | 07/18/2020 |
| LZTR1 mutations are predicted to variably impair binding of these substrates to the multi-component ligase complex and their efficient ubiquitination and degradation, resulting in MAPK signaling upregulation. | Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M. | 03/14/2020 |
| We report here two families in which segregate both multiple schwannomas and glioblastoma. In the first family, the proband received a diagnosis with of schwannomatosis after a surgery for a lumbar schwannoma at age 43, molecularly confirmed by identification of a germline heterozygous mutation in LZTR1. | Coexistence of schwannomatosis and glioblastoma in two families.
Deiller C, Van-Gils J, Zordan C, Tinat J, Loiseau H, Fabre T, Delleci C, Cohen J, Vidaud M, Parfait B, Goizet C. | 12/14/2019 |
| Pathogenic mutations affecting either RIT1 or LZTR1 resulted in incomplete degradation of RIT1. | RIT1 oncoproteins escape LZTR1-mediated proteolysis.
Castel P, Cheng A, Cuevas-Navarro A, Everman DB, Papageorge AG, Simanshu DK, Tankka A, Galeas J, Urisman A, McCormick F., Free PMC Article | 08/17/2019 |
| These clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1. | Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
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., Free PMC Article | 03/2/2019 |
| RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease. | Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
Steklov M, Pandolfi S, Baietti MF, Batiuk A, Carai P, Najm P, Zhang M, Jang H, Renzi F, Cai Y, Abbasi Asbagh L, Pastor T, De Troyer M, Simicek M, Radaelli E, Brems H, Legius E, Tavernier J, Gevaert K, Impens F, Messiaen L, Nussinov R, Heymans S, Eyckerman S, Sablina AA., Free PMC Article | 03/2/2019 |
| LZTR1 acts as a conserved regulator of RAS ubiquitination and MAPK pathway activation. Because LZTR1 disease mutations failed to revert loss-of-function phenotypes, these findings provide a molecular rationale for LZTR1 involvement in a variety of inherited and acquired human disorders. | LZTR1 is a regulator of RAS ubiquitination and signaling.
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., Free PMC Article | 03/2/2019 |
| LZTR1 mutation is associated with Noonan syndrome. | Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
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. | 02/16/2019 |