1 - 25 of 66 results for author:"Gregersen N." in Literature citations
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| Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases. Lucas T.G., Henriques B.J., Rodrigues J.V., Bross P., Gregersen N., Gomes C.M. Biochim. Biophys. Acta 1812:1658-1663(2011) · Mapped (10) |
| A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene. Gregersen N., Dahl H.A., Buttenschon H.N., Nyegaard M., Hedemand A., Als T.D., Wang A.G., Joensen S., Woldbye D.P., Koefoed P. et al. Eur. J. Hum. Genet. 20:84-90(2012) · Mapped (4) |
| A cell model to study different degrees of Hsp60 deficiency in HEK293 cells. Bie A.S., Palmfeldt J., Hansen J., Christensen R., Gregersen N., Corydon T.J., Bross P. Cell Stress Chaperones 16:633-640(2011) · Mapped (9) |
| SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. Doktor T.K., Schroeder L.D., Vested A., Palmfeldt J., Andersen H.S., Gregersen N., Andresen B.S. Hum. Mutat. 32:220-230(2011) · Mapped (14) |
| A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. Piekutowska-Abramczuk D., Olsen R.K., Wierzba J., Popowska E., Jurkiewicz D., Ciara E., Oltarzewski M., Gradowska W., Sykut-Cegielska J., Krajewska-Walasek M. et al. J. Inherit. Metab. Dis. 0:0-0(2010) · Mapped (8) |
| Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice. Christensen J.H., Nielsen M.N., Hansen J., Fuchtbauer A., Fuchtbauer E.M., West M., Corydon T.J., Gregersen N., Bross P. Cell Stress Chaperones 15:851-863(2010) · Mapped (3) |
| Anti-inflammatory heat shock protein 70 genes are positively associated with human survival. Singh R., Kolvraa S., Bross P., Christensen K., Bathum L., Gregersen N., Tan Q., Rattan S.I. Curr. Pharm. Des. 16:796-801(2010) · Mapped (19) |
| Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress. Schmidt S.P., Corydon T.J., Pedersen C.B., Bross P., Gregersen N. Mol. Genet. Metab. 100:155-162(2010) · Mapped (5) |
| Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. Faerch M., Christensen J.H., Rittig S., Johansson J.O., Gregersen N., de Zegher F., Corydon T.J. Am. J. Physiol. Renal Physiol. 297:F1518-25(2009) · Mapped (1) |
| The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Pedersen C.B., Kolvraa S., Kolvraa A., Stenbroen V., Kjeldsen M., Ensenauer R., Tein I., Matern D., Rinaldo P., Vianey-Saban C. et al. Hum. Genet. 124:43-56(2008) · Mapped (5) |
| The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. Bross P., Naundrup S., Hansen J., Nielsen M.N., Christensen J.H., Kruhoffer M., Palmfeldt J., Corydon T.J., Gregersen N., Ang D. et al. J. Biol. Chem. 283:15694-15700(2008) · Mapped (9) |
| Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). Hansen J., Corydon T.J., Palmfeldt J., Durr A., Fontaine B., Nielsen M.N., Christensen J.H., Gregersen N., Bross P. Neuroscience 153:474-482(2008) · Mapped (10) |
| Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Tein I., Elpeleg O., Ben-Zeev B., Korman S.H., Lossos A., Lev D., Lerman-Sagie T., Leshinsky-Silver E., Vockley J., Berry G.T. et al. Mol. Genet. Metab. 93:179-189(2008) · Mapped (5) |
| Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene. Faerch M., Christensen J.H., Corydon T.J., Kamperis K., de Zegher F., Gregersen N., Robertson G.L., Rittig S. Clin. Endocrinol. (Oxf) 68:395-403(2008) · Mapped (2) |
| ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Olsen R.K., Olpin S.E., Andresen B.S., Miedzybrodzka Z.H., Pourfarzam M., Merinero B., Frerman F.E., Beresford M.W., Dean J.C., Cornelius N. et al. Brain 130:2045-2054(2007) · Mapped (6) |
| A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. Hansen J., Svenstrup K., Ang D., Nielsen M.N., Christensen J.H., Gregersen N., Nielsen J.E., Georgopoulos C., Bross P. J. Neurol. 254:897-900(2007) · Mapped (9) |
| Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. Bross P., Li Z., Hansen J., Hansen J.J., Nielsen M.N., Corydon T.J., Georgopoulos C., Ang D., Lundemose J.B., Niezen-Koning K. et al. J. Hum. Genet. 52:56-65(2007) · Mapped (13) |
| Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pedersen C.B., Bischoff C., Christensen E., Simonsen H., Lund A.M., Young S.P., Koeberl D.D., Millington D.S., Roe C.R., Roe D.S. et al. Pediatr. Res. 60:315-320(2006) · UniProtKB (1) |
| Heat-shock protein 70 genes and human longevity: a view from Denmark. Singh R., Kolvraa S., Bross P., Christensen K., Gregersen N., Tan Q., Jensen U.B., Eiberg H., Rattan S.I. Ann. N. Y. Acad. Sci. 1067:301-308(2006) · Mapped (9) |
| Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Madsen P.P., Kibaek M., Roca X., Sachidanandam R., Krainer A.R., Christensen E., Steiner R.D., Gibson K.M., Corydon T.J., Knudsen I. et al. |
| Association between low self-rated health and heterozygosity for -110A > C polymorphism in the promoter region of HSP70-1 in aged Danish twins. Singh R., Kolvraa S., Bross P., Gregersen N., Andersen Nexo B., Frederiksen H., Christensen K., Rattan S.I. Biogerontology 5:169-176(2004) · Mapped (11) |
| Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. Mogensen J., Perrot A., Andersen P.S., Havndrup O., Klausen I.C., Christiansen M., Bross P., Egeblad H., Bundgaard H., Osterziel K.J. et al. J. Med. Genet. 41:E10-E10(2004) · UniProtKB (1) |
| Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. Christensen J.H., Siggaard C., Corydon T.J., deSanctis L., Kovacs L., Robertson G.L., Gregersen N., Rittig S. Eur. J. Hum. Genet. 12:44-51(2004) · UniProtKB (1) |
| Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. Pedersen C.B., Bross P., Winter V.S., Corydon T.J., Bolund L., Bartlett K., Vockley J., Gregersen N. J. Biol. Chem. 278:47449-47458(2003) · Mapped (2) |
| Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex. Sorensen C.B., Andresen B.S., Jensen U.B., Jensen T.G., Jensen P.K., Gregersen N., Bolund L. Exp. Dermatol. 12:472-479(2003) · Mapped (2) |