| 1. |
- Friedman, James S., et al.
(författare)
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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
- 2009
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 84:6, s. 792-800
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Tidskriftsartikel (refereegranskat)abstract
- Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.449G -> A (p.S150N), in exon 6 of the KLHL7 gene. Mutation screening of KLHL7 in 502 retinopathy probands has revealed three different missense mutations in six independent families. KLHL7 is widely expressed, including expression in rod photoreceptors, and encodes a 75 kDa protein of the BTB-Kelch Subfamily within the BTB superfamily. BTB-Kelch proteins have been implicated in ubiquitination through Cullin E3 ligases. Notably, all three putative disease-causing KLHL7 mutations are within a conserved BACK domain; homology modeling suggests that mutant amino acid side chains can potentially fill the cleft between two helices, thereby affecting the ubiquitination complexes. Mutations in an identical region of another BTB-Kelch protein, gigaxonin, have previously been associated with giant axonal neuropathy. Our studies suggest an additional role of the ubiquitin-proteasome protein-degradation pathway in maintaining neuronal health and in disease.
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| 2. |
- Lundberg, Jon O., et al.
(författare)
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Nitrate and nitrite in biology, nutrition and therapeutics
- 2009
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Ingår i: Nature Chemical Biology. - : Springer Science and Business Media LLC. - 1552-4450 .- 1552-4469. ; 5:12, s. 865-869
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Tidskriftsartikel (refereegranskat)abstract
- Inorganic nitrate and nitrite from endogenous or dietary sources are metabolized in vivo to nitric oxide (NO) and other bioactive nitrogen oxides. The nitrate-nitrite-NO pathway is emerging as an important mediator of blood flow regulation, cell signaling, energetics and tissue responses to hypoxia. The latest advances in our understanding of the biochemistry, physiology and therapeutics of nitrate, nitrite and NO were discussed during a recent 2-day meeting at the Nobel Forum, Karolinska Institutet in Stockholm.
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| 3. |
- Friedman, Beth, et al.
(författare)
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Subarctic atmospheric aerosol composition: 1. Ambient aerosol characterization
- 2009
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Ingår i: Journal of Geophysical Research. - 2156-2202. ; 114
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Tidskriftsartikel (refereegranskat)abstract
- Subarctic aerosol was sampled during July 2007 at the Abisko Research Station Stordalen field site operated by the Royal Swedish Academy of Sciences. Located in northern Sweden at 68 degrees latitude and 385 m above sea level (m asl), this site is classified as a semicontinuous permafrost mire. Number density, size distribution, cloud condensation nucleus properties, and chemical composition of the ambient aerosol were determined. Back trajectories showed that three distinct air masses were present over Stordalen during the sampling period. Aerosol properties changed and correlated with air mass origin to the south, northeast, or west, suggesting that particle source and transport were important factors. We observe that Arctic aerosol is not compositionally unlike that found in the free troposphere at midlatitudes. Internal mixtures of sulfates and organics, many on insoluble biomass burning and/or elemental carbon cores, dominate the number density of particles from similar to 200-to 2000-nm aerodynamic diameter. Mineral dust that had interacted with gas-phase species was observed in all air masses. Sea salt, due to the uptake of nitrate species and loss of chlorine, was the aerosol type that most varied chemically with air mass.
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