Anna Wedell - Selected Publications#

M Olivé, M Engvall, G Ravenscroft, M Cabrera-Serrano, H Jiao, CA Bortolotti, M Pignataro, M Lambrughi, H Jiang, ARR Forrest, N Benseny-Cases, S Hofbauer, C Obinger, G Battistuzzi, M Bellei, M Borsari, G Di Rocco, J Cladera, K Lagerstedt-Robinson, F Xiang, A Wredenberg, F Miralles, JJ Baiges, E Malfatti, NB Romero, N Streichenberger, C Vial, KG Claeys, CSM Straathof, A Goris, C Freyer, M Lammens, G Bassez, J Kere, P Clemente, T Sejersen, B Udd, N Vidal, I Ferrer, L Edström, A Wedell*, NG Laing*: MB mutation impairs oxygen binding and causes myoglobinopathy, an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Nature Commun. (2019) 10(1):1396-1409
*Contributed equally

Y Katsu-Jiménez, C Vázquez-Calvo, C Maffezzini, M Halldin, X Peng, C Freyer, A Wredenberg, A Giménez-Cassina*, A Wedell* and ESJ Arnér*: Lack of TXNIP in human gives lactic acidosis and low serum methionine linked to deficient pyruvate channeling to mitochondria. Diabetes (2019) 68(4):709-723
*Contributed equally

J Calvo-Garrido, C Maffezzini, FA Schober, P Clemente, E Uhlin, M Kele, H Stranneheim, N Lesko, H Bruhn, P Svenningsson, A Falk, A Wedell*, C Freyer*, A Wredenberg*: SQSTM1/p62-directed metabolic reprogramming is essential for normal neurodifferentiation. Stem Cell Reports (2019) 12(4):696-711
*Contributed equally

Y Kishita, A Pajak, N Ajit Bolar, CMT Marobbio, C Maffezzini, DV Miniero, M Monné, M Kohda, H Stranneheim, K Murayama, K Naess, N Lesko, H Bruhn, A Mourier, R Wibom, I Nennesmo, A Jespers, P Govaert, A Ohtake, L Van Laer, BL Loeys, C Freyer, F Palmieri, A Wredenberg, Y Okazaki, A Wedell: Intra-mitochondrial methylation deficiency due to mutations in SLC25A26. Am J Hum Genet (2015) 97:761-768

T Stödberg, A McTague, AJ Ruiz, H Hirata, J Zhen, P Long, I Farabella, E Meyer, A Kawahara, G Vassallo, SM Stivaros, MK Bjursell, H Stranneheim, S Tigerschiöld, B Persson, I Bangash, K Das, D Hughes, N Lesko, J Lundeberg, RC Scott, APoduri, IE Scheffer, H Smith, P Gissen, S Schorge, MEA Reith, M Topf, DM Kullmann, RJ Harvey, A Wedell*, MA Kurian*: Loss-of-function mutations in SLC12A5 encoding the potassium-chloride co-transporter KCC2 in migrating partial seizures of infancy. Nature Commun. (2015) 6:8038
*Contributed equally

M Dahlin, DA Martin, Z Hedlund, M Jonsson, U von Döbeln, A Wedell: The ketogenic diet compensates for AGC1 deficiency and improves myelination. Epilepsia (2015) 56:e176-181

C Freyer, H Stranneheim, K Naess, A Mourier, A Felser, C Maffezzini, N Lesko, H Bruhn, M Engvall, R Wibom, M Barbaro, Y Hinze, M Magnusson, R Andeer, RH Zetterström, U von Döbeln, A Wredenberg, A Wedell: Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid. J Med Genet. (2015) 52:779-83
H Stranneheim, M Engvall, K Naess, N Lesko, P Larsson, M Dahlberg, R Andeer, A Wredenberg, C Freyer, M Barbaro, H Bruhn, T Emahazion, M Magnusson, R Wibom, RH Zetterström, V Wirta, U von Döbeln, A Wedell: Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. BMC Genomics (2014) 15:1090

MK Bjursell, HJ Blom, J Asin Cayuela, ML Engvall, N Lesko, S Balasubramaniam, G Brandberg, M Halldin, M Falkenberg, C Jakobs, D Smith, E Struys, U von Döbeln, CM Gustafsson, J Lundeberg, and A Wedell: Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy and abnormal liver function. Am J Hum Genet. (2011) 89:507-515

R Wibom, F M Lasorsa, V Töhönen, M Barbaro, F H Sterky, T Kucinski, K Naess, M Jonsson, C L Pierri, F Palmieri and A Wedell: AGC1 deficiency associated with global cerebral hypomyelination. New Engl J Med. (2009) 361:489-495