| Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review. | Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
Zhang X, Han Y, Yang L, Xu N, Zhu L, Qiu S, Li Y, Xu L, Yu X. | 01/29/2024 |
| Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene. | Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
Cattelani C, Battistella I, Di Leva F, Fioravanti G, Benedicenti F, Stanzial F, Schwienbacher C, Fanelli F, Pramstaller PP, Hicks AA, Conti L, Corti C., Free PMC Article | 11/19/2022 |
| Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review. | Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.
Yang S, Yang LM, Liao HM, Fang HJ, Ning ZS, Liao CS, Wu LW. | 08/13/2022 |
| The SZT2 Interactome Unravels New Functions of the KICSTOR Complex. | The SZT2 Interactome Unravels New Functions of the KICSTOR Complex.
Cattelani C, Lesiak D, Liebscher G, Singer II, Stasyk T, Wallnöfer MH, Heberle AM, Corti C, Hess MW, Pfaller K, Kwiatkowski M, Pramstaller PP, Hicks AA, Thedieck K, Müller T, Huber LA, Eca Guimaraes de Araujo M., Free PMC Article | 12/4/2021 |
| A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant. | A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.
El Halabi T, Dirani M, Hotait M, Nasreddine W, Beydoun A., Free PMC Article | 10/23/2021 |
| Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition. | Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.
Trivisano M, Rivera M, Terracciano A, Ciolfi A, Napolitano A, Pepi C, Calabrese C, Digilio MC, Tartaglia M, Curatolo P, Vigevano F, Specchio N. | 04/17/2021 |
| results expand the genotype and phenotypes of SZT2-related DEEs, suggesting that SZT2 mutations play a role in developmental delay and epileptic encephalopathy, with high susceptibility to SE and relatively specific MRI findings. | Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.
Sun X, Zhong X, Li T., Free PMC Article | 06/20/2020 |
| The loss-of-function nature of SZT2 mutations in the patients, and consequent hyperactivation of mTORC1 signaling in response to both amino acid starvation and stimulation in their lymphoblastoid cell lines, is reported. | Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.
Nakamura Y, Kato K, Tsuchida N, Matsumoto N, Takahashi Y, Saitoh S., Free PMC Article | 03/7/2020 |
| in the third case, born to consanguineous parents, had unexpected compound heterozygous missense mutations. She showed microcephaly despite the other case and previous ones presenting with macrocephaly, suggesting that SZT2 mutations might affect head size. | Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.
Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N. | 08/3/2019 |
| SZT2 heterozygote mutation results in early-onset epileptic encephalopathy and leukoencephalopathy. | Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
Pizzino A, Whitehead M, Sabet Rasekh P, Murphy J, Helman G, Bloom M, Evans SH, Murnick JG, Conry J, Taft RJ, Simons C, Vanderver A, Adang LA., Free PMC Article | 05/25/2019 |
| SZT2 has a central role in dictating GATOR-dependent nutrient sensing by promoting lysosomal localization of SZT2-orchestrated GATOR complex, and reveal an unexpected function of lysosome-located GATOR2 in suppressing mTORC1 signalling through SESN recruitment | SZT2 dictates GATOR control of mTORC1 signalling.
Peng M, Yin N, Li MO., Free PMC Article | 08/19/2017 |
| identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells | KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.
Wolfson RL, Chantranupong L, Wyant GA, Gu X, Orozco JM, Shen K, Condon KJ, Petri S, Kedir J, Scaria SM, Abu-Remaileh M, Frankel WN, Sabatini DM., Free PMC Article | 08/19/2017 |
| We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate intellectual disability without seizures. | An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.
Falcone M, Yariz KO, Ross DB, Foster J 2nd, Menendez I, Tekin M., Free PMC Article | 08/9/2014 |
| mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy. | Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.
Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G., Free PMC Article | 11/16/2013 |