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1.	Carrozzo, Rosalba, et al. (author) Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 2016 In: Journal of inherited metabolic disease. - : Wiley. - 1573-2665 .- 0141-8955. ; 39:2, s. 243-252 Journal article (peer-reviewed)abstract The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients.
2.	Pedersen, Helle Krogh, et al. (author) Human gut microbes impact host serum metabolome and insulin sensitivity 2016 In: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 535:7612, s. 376-381 Journal article (peer-reviewed)abstract Insulin resistance is a forerunner state of ischaemic cardiovascular disease and type 2 diabetes. Here we show how the human gut microbiome impacts the serum metabolome and associates with insulin resistance in 277 non-diabetic Danish individuals. The serum metabolome of insulin-resistant individuals is characterized by increased levels of branched-chain amino acids (BCAAs), which correlate with a gut microbiome that has an enriched biosynthetic potential for BCAAs and is deprived of genes encoding bacterial inward transporters for these amino acids. Prevotella copri and Bacteroides vulgatus are identified as the main species driving the association between biosynthesis of BCAAs and insulin resistance, and in mice we demonstrate that P. copri can induce insulin resistance, aggravate glucose intolerance and augment circulating levels of BCAAs. Our findings suggest that microbial targets may have the potential to diminish insulin resistance and reduce the incidence of common metabolic and cardiovascular disorders.

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Wang, Jun (1); Pedersen, Oluf (1); Hansen, Torben (1); Jørgensen, Torben (1); Hyötyläinen, Tuulia, ... (1); Orešič, Matej, 1967- (1); show more...; Mattila, Ismo (1); Pedersen, Helle Krog ... (1); Gudmundsdottir, Valb ... (1); Brunak, Søren (1); Forslund, Kristoffer (1); Bork, Peer (1); Cordelli, Duccio M. (1); Holme, Elisabeth, 19 ... (1); Tulinius, Mar, 1953 (1); Darin, Niklas, 1964 (1); Trôst, Kajetan (1); Nielsen, Trine (1); Vieira-Silva, Sara (1); Falony, Gwen (1); Le Chatelier, Emmanu ... (1); Prifti, Edi (1); Levenez, Florence (1); Raes, Jeroen (1); Bertini, Enrico (1); Kristiansen, Karsten (1); Hildebrand, Falk (1); Ravn, Kirstine (1); Hellgren, Lars I. (1); Taylor, Robert W (1); Ehrlich, S. Dusko (1); Naess, Karin (1); Uusimaa, Johanna (1); Carrozzo, Rosalba (1); Verrigni, Daniela (1); Rasmussen, Magnhild (1); de Coo, Rene (1); Amartino, Hernan (1); Bianchi, Marzia (1); Buhas, Daniela (1); Mesli, Samir (1); Born, Alfred Peter (1); Woldseth, Berit (1); Prontera, Paolo (1); Batbayli, Mustafa (1); Joensen, Fróði (1); Santorelli, Filippo ... (1); Duno, Morten (1); Jouvencel, Philippe (1); Burlina, Alberto (1); show less...

University: University of Gothenburg (1); Örebro University (1); Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (2); Natural sciences (1)

Year: 2016 (2)

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