| Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy. | Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
Hentrich L, Parnes M, Lotze TE, Coorg R, de Koning TJ, Nguyen KM, Yip CK, Jungbluth H, Koy A, Dafsari HS., Free PMC Article | 11/1/2023 |
| Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease. | Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease.
Yu M, Tcheandjieu C, Georges A, Xiao K, Tejeda H, Dina C, Le Tourneau T, Fiterau M, Judy R, Tsao NL, Amgalan D, Munger CJ, Engreitz JM, Damrauer SM, Bouatia-Naji N, Priest JR., Free PMC Article | 03/26/2022 |
| Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. | TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA., Free PMC Article | 11/3/2018 |
| Molecular dynamics (MD) simulations showed that the hydrophobic core, which triggers SNARE complex formation, is compromised due to the glycine-to-tryptophan substitution in both GOSR2 and Bos1. | Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.
Völker JM, Dergai M, Abriata LA, Mingard Y, Ysselstein D, Krainc D, Dal Peraro M, Fischer von Mollard G, Fasshauer D, Koliwer J, Schwake M., Free PMC Article | 07/28/2018 |
| Mutations in GOSR2 reveal stringent secretory pathway demands of dendritic growth and synaptic integrity. | Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity.
Praschberger R, Lowe SA, Malintan NT, Giachello CNG, Patel N, Houlden H, Kullmann DM, Baines RA, Usowicz MM, Krishnakumar SS, Hodge JJL, Rothman JE, Jepson JEC., Free PMC Article | 05/26/2018 |
| review of the phenotype/genotype of GOSR2-associated progressive myoclonus epilepsy [review] | GOSR2: a progressive myoclonus epilepsy gene.
Dibbens LM, Rubboli G. | 03/18/2017 |
| The SNAREs(Soluble N-ethylmaleimide-sensitive factor attachment protein receptors), that regulate both the biogenesis and secretion of multiple lysosome-related organelles(LROs). | SNAREs in the maturation and function of LROs.
Jani RA, Mahanty S, Setty SR., Free PMC Article | 10/22/2016 |
| Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia. | Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
van Egmond ME, Verschuuren-Bemelmans CC, Nibbeling EA, Elting JW, Sival DA, Brouwer OF, de Vries JJ, Kremer HP, Sinke RJ, Tijssen MA, de Koning TJ. | 09/20/2014 |
| A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men | A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men.
Pan S, Nakayama T, Sato N, Izumi Y, Soma M, Aoi N, Ma Y, Hinohara S, Doba N., Free PMC Article | 04/12/2014 |
| Golgi vesicles, presumably with COPI, serve to inhibit intra-Golgi transport by the extraction of GS27 and GS28 from the Golgi cisternae, which blocks the formation of inter-cisternal connections | Segregation of the Qb-SNAREs GS27 and GS28 into Golgi vesicles regulates intra-Golgi transport.
Fusella A, Micaroni M, Di Giandomenico D, Mironov AA, Beznoussenko GV. | 12/21/2013 |
| Single nucleotide polymorphisms in the GOSR2 gene are associated with essential hypertension in Japanese men. | A haplotype of the GOSR2 gene is associated with essential hypertension in Japanese men.
Pan S, Nakayama T, Sato N, Izumi Y, Soma M, Aoi N, Ma Y. | 12/14/2013 |
| GOSR2 gene mutation is associated with progressive myoclonus epilepsy cases, all of whom came from countries bounding the North Sea, extending to the coastal region of Northern Norway. | 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM, Berkovic SF. | 06/1/2013 |
| This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi. | A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF, Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF., Free PMC Articles: PMC3146720, PMC3146720 | 08/20/2011 |
| A homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), was identified in five apparently unrelated families with a clinically distinct progressive myoclonic epilepsy syndrome. | A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF, Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF., Free PMC Articles: PMC3146720, PMC3146720 | 06/21/2011 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) | Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
Vasan RS, Glazer NL, Felix JF, Lieb W, Wild PS, Felix SB, Watzinger N, Larson MG, Smith NL, Dehghan A, Grosshennig A, Schillert A, Teumer A, Schmidt R, Kathiresan S, Lumley T, Aulchenko YS, König IR, Zeller T, Homuth G, Struchalin M, Aragam J, Bis JC, Rivadeneira F, Erdmann J, Schnabel RB, Dörr M, Zweiker R, Lind L, Rodeheffer RJ, Greiser KH, Levy D, Haritunians T, Deckers JW, Stritzke J, Lackner KJ, Völker U, Ingelsson E, Kullo I, Haerting J, O'Donnell CJ, Heckbert SR, Stricker BH, Ziegler A, Reffelmann T, Redfield MM, Werdan K, Mitchell GF, Rice K, Arnett DK, Hofman A, Gottdiener JS, Uitterlinden AG, Meitinger T, Blettner M, Friedrich N, Wang TJ, Psaty BM, van Duijn CM, Wichmann HE, Munzel TF, Kroemer HK, Benjamin EJ, Rotter JI, Witteman JC, Schunkert H, Schmidt H, Völzke H, Blankenberg S., Free PMC Article | 01/20/2010 |
| We found evidence that a SNP in GOSR2 is modestly associated with hypertension in whites from the ARIC study and the WGHS. | GOSR2 Lys67Arg is associated with hypertension in whites.
Meyer TE, Shiffman D, Morrison AC, Rowland CM, Louie JZ, Bare LA, Ross DA, Arellano AR, Chasman DI, Ridker PM, Pankow JS, Coresh J, Malloy MJ, Kane JP, Ellis SG, Devlin JJ, Boerwinkle E, Meyer TE, Shiffman D, Morrison AC, Rowland CM, Louie JZ, Bare LA, Ross DA, Arellano AR, Chasman DI, Ridker PM, Pankow JS, Coresh J, Malloy MJ, Kane JP, Ellis SG, Devlin JJ, Boerwinkle E., Free PMC Articles: PMC4346180, PMC4346180 | 01/21/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | GOSR2 Lys67Arg is associated with hypertension in whites.
Meyer TE, Shiffman D, Morrison AC, Rowland CM, Louie JZ, Bare LA, Ross DA, Arellano AR, Chasman DI, Ridker PM, Pankow JS, Coresh J, Malloy MJ, Kane JP, Ellis SG, Devlin JJ, Boerwinkle E, Meyer TE, Shiffman D, Morrison AC, Rowland CM, Louie JZ, Bare LA, Ross DA, Arellano AR, Chasman DI, Ridker PM, Pankow JS, Coresh J, Malloy MJ, Kane JP, Ellis SG, Devlin JJ, Boerwinkle E., Free PMC Articles: PMC4346180, PMC4346180 | 01/11/2009 |
| These studies suggest that membrin recruits Arf-1 to the early Golgi and reveal distinct kinetic cycles for Arf-1 at early and late Golgi determined by different sets of Arf regulators and effectors. | Targeting of Arf-1 to the early Golgi by membrin, an ER-Golgi SNARE.
Honda A, Al-Awar OS, Hay JC, Donaldson JG., Free PMC Article | 01/21/2010 |