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Leucine-zipper-like transcription regulator 1

This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: INI1, HAD, merlin, guanine nucleotide exchange factor, MAPK
Papers on LZTR-1
Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms.
Evans et al., Catania, Italy. In Semin Pediatr Neurol, Dec 2015
which encodes for a protein called merlin or schwannomin, most similar to the exrin-readixin-moesin proteins; mosaic or segmental NF2 is because of mosaic phenomena for the NF2 gene, whereas SWNTS is caused by germline and possibly mosaic mutations either in the SMARCB1 gene (SWNTS1; MIM # 162091) or the LZTR1 gene (SWNTS2; MIM # 615670), both falling within the 22q region.
Recent advances in RASopathies.
Matsubara et al., Sendai, Japan. In J Hum Genet, Nov 2015
Recently, novel gene variants, including RIT1, RRAS, RASA2, A2ML1, SOS2 and LZTR1, have been shown to be associated with RASopathies, further expanding the disease entity.
Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis.
Papi et al., Florence, Italy. In Hum Pathol, Aug 2015
Constitutional alterations in either SMARCB1 or LZTR1 on 22q are responsible of the phenotype.
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Papi et al., Florence, Italy. In Eur J Hum Genet, Jul 2015
Constitutional inactivating variants in two genes, SMARCB1 and, very recently, LZTR1, have been reported.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Bertola et al., São Paulo, Brazil. In J Med Genet, Jun 2015
RESULTS: We identified rare, segregating or de novo missense variants in SOS2 and LZTR1 in 4% and 8%, respectively, of the 50 Brazilian probands.
Excess of rare, inherited truncating mutations in autism.
Eichler et al., Seattle, United States. In Nat Genet, Jun 2015
This analysis identifies a second class of candidate genes (for example, RIMS1, CUL7 and LZTR1) where transmitted mutations may create a sensitized background but are unlikely to be completely penetrant.
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
Evans et al., Manchester, United Kingdom. In Neurology, Feb 2015
OBJECTIVES: We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation.
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.
Reutter et al., Bonn, Germany. In Birth Defects Res A Clin Mol Teratol, 2014
Characterization of these 12 candidate genes through whole-mount in situ hybridization of mouse embryos at embryonic day 9.5 suggested that CRKL, THAP7, and LZTR1 are CBE candidate genes.
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Messiaen et al., Birmingham, United States. In Nat Genet, 2014
LZTR1 germline mutations were identified in seven of the eight cases.
The integrated landscape of driver genomic alterations in glioblastoma.
Iavarone et al., New York City, United States. In Nat Genet, 2013
We found mutations with loss of heterozygosity in LZTR1, encoding an adaptor of CUL3-containing E3 ligase complexes.
Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
Sun et al., Shanghai, China. In Bmc Med Genet, 2010
Of the 13 cases, 11 presented with a hemizygous interstitial microdeletion from CLTCL1 to LZTR1; one presented with a regional deletion from CLTCL1 to DRCR8; and one presented with a regional deletion from CDC45L to LZTR1.
[Barrier- and autophagic functions of the intestinal epithelia: role of disturbances in the pathogenesis of Crohn's disease].
Lapis, Budapest, Hungary. In Orv Hetil, 2010
Close association of the disease with polymorphisms in the genes encoding the pattern recognition receptors particularly the NOD2 protein, the Wnt pathway transcription factor Tcf4 (also known as TCFL2) and the autophagic regulator ATG16L1 have been found.
[Diagnosis of 22q11 deletion and duplication in congenital heart disease by multiplex ligation dependent probe amplification].
Wang et al., Nanjing, China. In Zhongguo Dang Dai Er Ke Za Zhi, 2009
RESULTS: MLPA demonstrated that 7 cases had 22q11 deletion [6 cases from CLTCL1 to LZTR1(LCR A-D) and 1 case from CLTCL1 to PCQAP (LCR A-C)] and that 1 case had 22q11 duplication,spanning from ZNF74 to LZTR1(LCR B-D).
Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery.
Wang et al., Nanjing, China. In Cardiol Young, 2009
Multiplex ligation-dependent probe amplification analysis revealed 10 cases (4.15%) with changes in the number of copies within the region of 22q11.2, of which 7 cases were hemizygous interstitial microdeletion from CLTCL1 to LZTR1, 1 case with deletion of the region from CLTCL1 to PCQAP, and 2 cases with 22q11.2
Menin promotes the Wnt signaling pathway in pancreatic endocrine cells.
Sawicki et al., Los Angeles, United States. In Mol Cancer Res, 2008
We show that menin physically interacts with proteins involved in the canonical Wnt signaling pathway, including beta-catenin, TCF3 (TCFL1), and weakly with TCF4 (TCFL2).
The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.
Kroll et al., Freiburg, Germany. In J Biol Chem, 2006
LZTR-1 is the first BTB-kelch protein that exclusively localizes to the Golgi network
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