| Integrative Analysis Unveils the Correlation of Aminoacyl-tRNA Biosynthesis Metabolites with the Methylation of the SEPSECS Gene in Huntington's Disease Brain Tissue. | Integrative Analysis Unveils the Correlation of Aminoacyl-tRNA Biosynthesis Metabolites with the Methylation of the SEPSECS Gene in Huntington's Disease Brain Tissue.
Vishweswaraiah S, Yilmaz A, Saiyed N, Khalid A, Koladiya PR, Pan X, Macias S, Robinson AC, Mann D, Green BD, Kerševičiūte I, Gordevičius J, Radhakrishna U, Graham SF., Free PMC Article | 10/5/2023 |
| Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease. | Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK., Free PMC Article | 06/18/2022 |
| Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency. | Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E, Chatterjee K., Free PMC Article | 01/15/2022 |
| Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase has been described. | Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.
Puppala AK, French RL, Matthies D, Baxa U, Subramaniam S, Simonović M., Free PMC Article | 05/19/2018 |
| Epileptic encephalopathy with burst suppression without brain malformations is associated with pathogenic variation in SEPSECS. | Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A., Free PMC Article | 07/1/2017 |
| The progression of clinical symptoms in these families is evidently slower than in previously reported cases, and the cerebellar atrophy milder by brain MRI, indicating that SEPSECS mutations are also involved in milder late-onset cerebellar atrophy. | Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N. | 04/8/2017 |
| results suggest SEPSECS as a candidate gene for progressive encephalopathies with lactate elevation. | Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.
Anttonen AK, Hilander T, Linnankivi T, Isohanni P, French RL, Liu Y, Simonović M, Söll D, Somer M, Muth-Pawlak D, Corthals GL, Laari A, Ylikallio E, Lähde M, Valanne L, Lönnqvist T, Pihko H, Paetau A, Lehesjoki AE, Suomalainen A, Tyynismaa H., Free PMC Article | 11/7/2015 |
| structural analysis of the terminal catalytic complex in selenocysteine synthesis | Structural asymmetry of the terminal catalytic complex in selenocysteine synthesis.
French RL, Gupta N, Copeland PR, Simonović M., Free PMC Article | 12/27/2014 |
| Data suggest SEPSECS silencing in placental trophoblasts inhibits proliferation, induces apoptosis, and reduces production of progesterone/chorionic gonadotropin (P/hCG); SEPSECS over-expression promotes cell proliferation and secretion of P/hCG. | The role of Sep (O-phosphoserine) tRNA: Sec (selenocysteine) synthase (SEPSECS) in proliferation, apoptosis and hormone secretion of trophoblast cells.
Zhao HD, Zhang WG, Sun MN, Duan QF, Li FL, Li H. | 06/21/2014 |
| Three SNPs in SEPSECS and SEPHS1 were found to significantly interact with serum selenium level and Crohn's Disease. | Selenium, selenoprotein genes and Crohn's disease in a case-control population from Auckland, New Zealand.
Gentschew L, Bishop KS, Han DY, Morgan AR, Fraser AG, Lam WJ, Karunasinghe N, Campbell B, Ferguson LR., Free PMC Article | 03/30/2013 |
| The human SepSecS protein is also known as soluble liver antigen/liver pancreas (SLA/LP), which represents one of the antigens of autoimmune hepatitis. | Human SepSecS or SLA/LP: selenocysteine formation and autoimmune hepatitis.
Palioura S, Herkel J, Simonović M, Lohse AW, Söll D., Free PMC Article | 01/15/2011 |
| SepSecS mutations cause autosomal-recessive progressive cerebellocerebral atrophy in Jews of Iraqi and Moroccan ancestry. | Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Söll D, Lerman-Sagie T, Birk OS., Free PMC Article | 10/30/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | A combination of functional polymorphisms in the CASP8, MMP1, IL10 and SEPS1 genes affects risk of non-small cell lung cancer.
Hart K, Landvik NE, Lind H, Skaug V, Haugen A, Zienolddiny S. | 06/30/2010 |
| detectable in liver extracts of autoimmune hepatitis patients' cells as the major autoantigenic component | SLA/LP/tRNP((Ser)Sec) antigen in autoimmune hepatitis: identification of the native protein in human hepatic cell extract.
Volkmann M, Luithle D, Zentgraf H, Schnölzer M, Fiedler S, Heid H, Schulze-Bergkamen A, Strassburg CP, Gehrke SG, Manns MP. | 06/28/2010 |
| crystal structure of tRNA(Sec) in complex with SepSecS, phosphoserine, and thiophosphate, together with in vivo and in vitro enzyme assays, supports a pyridoxal phosphate-dependent mechanism of Sec-tRNA(Sec) formation | The human SepSecS-tRNASec complex reveals the mechanism of selenocysteine formation.
Palioura S, Sherrer RL, Steitz TA, Söll D, Simonovic M., Free PMC Article | 01/21/2010 |