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GOSR2: a progressive myoclonus epilepsy gene.
Dibbens LM, Rubboli G. Dibbens LM, et al. Epileptic Disord. 2016 Sep 1;18(S2):111-114. doi: 10.1684/epd.2016.0848. Epileptic Disord. 2016. PMID: 27618868 Review.
GOSR2-associated PME is associated with a homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene. The functional effect of this mutation is a loss of function that results in failure of the GOSR2 protein to localize to the cis …
GOSR2-associated PME is associated with a homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport g …
Mechanisms of Neurological Dysfunction in GOSR2 Progressive Myoclonus Epilepsy, a Golgi SNAREopathy.
Jepson JEC, Praschberger R, Krishnakumar SS. Jepson JEC, et al. Neuroscience. 2019 Nov 10;420:41-49. doi: 10.1016/j.neuroscience.2019.03.057. Epub 2019 Apr 4. Neuroscience. 2019. PMID: 30954670 Review.
This fusion step is driven by a quartet of SNARE proteins that includes the cis-Golgi t-SNARE Membrin, encoded by the GOSR2 gene. Mis-sense mutations in GOSR2 result in Progressive Myoclonus Epilepsy (PME), a severe neurological disorder characterised by ataxia, myo …
This fusion step is driven by a quartet of SNARE proteins that includes the cis-Golgi t-SNARE Membrin, encoded by the GOSR2 gene. Mis …
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. Hentrich L, et al. Genes (Basel). 2023 Sep 25;14(10):1860. doi: 10.3390/genes14101860. Genes (Basel). 2023. PMID: 37895210 Free PMC article.
Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. ...Here, we report two novel patients from unrelated families with a GOSR2-related disorder and novel genetic and …
Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with …
Congenital heart disease risk loci identified by genome-wide association study in European patients.
Lahm H, Jia M, Dreßen M, Wirth F, Puluca N, Gilsbach R, Keavney BD, Cleuziou J, Beck N, Bondareva O, Dzilic E, Burri M, König KC, Ziegelmüller JA, Abou-Ajram C, Neb I, Zhang Z, Doppler SA, Mastantuono E, Lichtner P, Eckstein G, Hörer J, Ewert P, Priest JR, Hein L, Lange R, Meitinger T, Cordell HJ, Müller-Myhsok B, Krane M. Lahm H, et al. J Clin Invest. 2021 Jan 19;131(2):e141837. doi: 10.1172/JCI141837. J Clin Invest. 2021. PMID: 33201861 Free PMC article. Clinical Trial.
Three highly significant risk variants on chromosome 17q21.32 within the GOSR2 locus were detected in patients with anomalies of thoracic arteries and veins (ATAV). ...We analyzed the expression of all 4 genes during cardiac differentiation of human and murine induced plur …
Three highly significant risk variants on chromosome 17q21.32 within the GOSR2 locus were detected in patients with anomalies of thor …
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, et al. Am J Hypertens. 2009 Feb;22(2):163-8. doi: 10.1038/ajh.2008.336. Epub 2008 Dec 4. Am J Hypertens. 2009. PMID: 19057520 Free PMC article.
We tested a single-nucleotide polymorphism (SNP) (Lys67Arg, rs197922) in the Golgi SNAP Receptor Complex Member 2 (GOSR2) gene for association with hypertension and blood pressure (BP). We chose this SNP because it was nominally associated with CHD in earlier studies. Furt …
We tested a single-nucleotide polymorphism (SNP) (Lys67Arg, rs197922) in the Golgi SNAP Receptor Complex Member 2 (GOSR2) gene for as …
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.
Henige H, Kaur S, Pappas K. Henige H, et al. Eur J Med Genet. 2021 Apr;64(4):104184. doi: 10.1016/j.ejmg.2021.104184. Epub 2021 Feb 24. Eur J Med Genet. 2021. PMID: 33639315
The homozygous missense variant in the GOSR2 gene (c.430G > T) is known to be associated with progressive myoclonic epilepsy (PME). ...Whole exome sequencing showed pathogenic compound heterozygous variants in GOSR2 (c.430G > T and c.82C > T). This case con …
The homozygous missense variant in the GOSR2 gene (c.430G > T) is known to be associated with progressive myoclonic epilepsy (PME) …
Myopathy can be a key phenotype of membrin (GOSR2) deficiency.
Stemmerik MG, Borch JS, Dunø M, Krag T, Vissing J. Stemmerik MG, et al. Hum Mutat. 2021 Sep;42(9):1101-1106. doi: 10.1002/humu.24247. Epub 2021 Jul 6. Hum Mutat. 2021. PMID: 34167170
T1-weighted, cross-sectional MR images showing shoulder girdle, abdominal, paraspinal, gluteal and thigh muscles almost completely replaced by fat, whereas lower leg muscles are almost unaffected i a patient who is compound heterozygous for pathogenic variants in GOSR2....
T1-weighted, cross-sectional MR images showing shoulder girdle, abdominal, paraspinal, gluteal and thigh muscles almost completely replaced …
Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.
Praschberger R, Balint B, Mencacci NE, Hersheson J, Rubio-Agusti I, Kullmann DM, Bettencourt C, Bhatia K, Houlden H. Praschberger R, et al. Mov Disord Clin Pract. 2015 Jun 17;2(3):271-273. doi: 10.1002/mdc3.12190. eCollection 2015 Sep. Mov Disord Clin Pract. 2015. PMID: 30363482 Free PMC article.
Thus far, no other disease associated GOSR2 mutation has been reported. METHODS: From epilepsy, movement disorder and genetic clinics 43 patients suffering from progressive myoclonus epilepsy/ataxia were screened for defects in GOSR2, SCARB2 and CSTB. RESULTS: A 61- …
Thus far, no other disease associated GOSR2 mutation has been reported. METHODS: From epilepsy, movement disorder and genetic clinics …
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
International Consortium for Blood Pressure Genome-Wide Association Studies; Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang SJ, Pihur V, Vollenweider P, O'Reilly PF, Amin N, Bragg-Gresham JL, Teumer A, Glazer NL, Launer L, Zhao JH, Aulchenko Y, Heath S, Sõber S, Parsa A, Luan J, Arora P, Dehghan A, Zhang F, Lucas G, Hicks AA, Jackson AU, Peden JF, Tanaka T, Wild SH, Rudan I, Igl W, Milaneschi Y, Parker AN, Fava C, Chambers JC, Fox ER, Kumari M, Go MJ, van der Harst P, Kao WH, Sjögren M, Vinay DG, Alexander M, Tabara Y, Shaw-Hawkins S, Whincup PH, Liu Y, Shi G, Kuusisto J, Tayo B, Seielstad M, Sim X, Nguyen KD, Lehtimäki T, Matullo G, Wu Y, Gaunt TR, Onland-Moret NC, Cooper MN, Platou CG, Org E, Hardy R, Dahgam S, Palmen J, Vitart V, Braund PS, Kuznetsova T, Uiterwaal CS, Adeyemo A, Palmas W, Campbell H, Ludwig B, Tomaszewski M, Tzoulaki I, Palmer ND; CARDIoGRAM consortium; CKDGen Consortium; KidneyGen Consortium; EchoGen consortium; CHARGE-HF consortium; Aspelund T, Garcia M, Chang YP, O'Connell JR, Steinle NI, Grobbee DE, Arking DE, Kardia SL, Morrison AC, Hernandez D, Najjar S, McArdle WL, Hadley D, Brown MJ, Connell JM, Hi… See abstract for full author list ➔ International Consortium for Blood Pressure Genome-Wide Association Studies, et al. Nature. 2011 Sep 11;478(7367):103-9. doi: 10.1038/nature10405. Nature. 2011. PMID: 21909115 Free PMC article.
This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A …
This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of Europ …
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. Praschberger R, et al. Cell Rep. 2017 Oct 3;21(1):97-109. doi: 10.1016/j.celrep.2017.09.004. Cell Rep. 2017. PMID: 28978487 Free PMC article.
Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progressive myoclonus epilepsy (PME). Membrin is a ubiquitous and essential protein mediating ER-to-Golgi membrane fusion. ...Our study highlight …
Mutations in the Golgi SNARE (SNAP [soluble NSF attachment protein] receptor) protein Membrin (encoded by the GOSR2 gene) cause progr …
63 results