Anna Wredenberg

About me
Publications
CV
Public outreach and news

About me

PI in mitochondrial biology and consultant in clinical genetics/metabolic
diseases

Articles

Article: NEUROLOGY-GENETICS. 2023;9(6):e200100

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

Ben-Shabat I; Kvarnung M; Sperker W; Bruhn H; Wredenberg A; Wibom R; Nennesmo I; Engvall M; Paucar M
Journal article: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 2023;1869(7):166786

The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.

Erdinc D; Macao B; Valenzuela S; Lesko N; Naess K; Peter B; Bruhn H; Wedell A; Wredenberg A; Falkenberg M
Article: JCI INSIGHT. 2023;8(17):e167656

Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.

Zhang J; Koolmeister C; Han J; Filograna R; Hanke L; Àdori M; Sheward DJ; Teifel S; Gopalakrishna S; Shao Q; Liu Y; Zhu K; Harris RA; McInerney G; Murrell B; Aoun M; Bäckdahl L; Holmdahl R; Pekalski M; Wedell A; Engvall M; Wredenberg A; Karlsson Hedestam GB; Castro Dopico X; Rorbach J
Article: BRAIN. 2023;146(4):1357-1372

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Mattison KA; Tossing G; Mulroe F; Simmons C; Butler KM; Schreiber A; Alsadah A; Neilson DE; Naess K; Wedell A; Wredenberg A; Sorlin A; McCann E; Burghel GJ; Menendez B; Hoganson GE; Botto LD; Filloux FM; Aledo-Serrano Á; Gil-Nagel A; Tatton-Brown K; Verbeek NE; van der Zwaag B; Aleck KA; Fazenbaker AC; Balciuniene J; Dubbs HA; Marsh ED; Garber K; Ek J; Duno M; Hoei-Hansen CE; Deardorff MA; Raca G; Quindipan C; van Hirtum-Das M; Breckpot J; Hammer TB; Møller RS; Whitney A; Douglas AGL; Kharbanda M; Brunetti-Pierri N; Morleo M; Nigro V; May HJ; Tao JX; Argilli E; Sherr EH; Dobyns WB; Genomics England Research Consortium; Baines RA; Warwicker J; Parker JA; Banka S; Campeau PM; Escayg A
Article: BIOMEDICINES. 2022;10(12):3171

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.

Vaz R; Wincent J; Elfissi N; Rosengren Forsblad K; Pettersson M; Naess K; Wedell A; Wredenberg A; Lindstrand A; Ygberg S
Article: NATURE COMMUNICATIONS. 2022;13(1):5750

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing.

Clemente P; Calvo-Garrido J; Pearce SF; Schober FA; Shigematsu M; Siira SJ; Laine I; Spåhr H; Steinmetzger C; Petzold K; Kirino Y; Wibom R; Rackham O; Filipovska A; Rorbach J; Freyer C; Wredenberg A
Article: NUCLEIC ACIDS RESEARCH. 2022;50(15):8749-8766

Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.

Misic J; Milenkovic D; Al-Behadili A; Xie X; Jiang M; Jiang S; Filograna R; Koolmeister C; Siira SJ; Jenninger L; Filipovska A; Clausen AR; Caporali L; Valentino ML; La Morgia C; Carelli V; Nicholls TJ; Wredenberg A; Falkenberg M; Larsson N-G
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2022;109(8):1421-1435

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

Rosenhahn E; O'Brien TJ; Zaki MS; Sorge I; Wieczorek D; Rostasy K; Vitobello A; Nambot S; Alkuraya FS; Hashem MO; Alhashem A; Tabarki B; Alamri AS; Al Safar AH; Bubshait DK; Alahmady NF; Gleeson JG; Abdel-Hamid MS; Lesko N; Ygberg S; Correia SP; Wredenberg A; Alavi S; Seyedhassani SM; Ebrahimi Nasab M; Hussien H; Omar TEI; Harzallah I; Touraine R; Tajsharghi H; Morsy H; Houlden H; Shahrooei M; Ghavideldarestani M; Abdel-Salam GMH; Torella A; Zanobio M; Terrone G; Brunetti-Pierri N; Omrani A; Hentschel J; Lemke JR; Sticht H; Abou Jamra R; Brown AEX; Maroofian R; Platzer K
Article: HUMAN MOLECULAR GENETICS. 2022;31(12):2049-2062

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

Schober FA; Tang JX; Sergeant K; Moedas MF; Zierz CM; Moore D; Smith C; Lewis D; Guha N; Hopton S; Falkous G; Lam A; Pyle A; Poulton J; Gorman GS; Taylor RW; Freyer C; Wredenberg A
Article: STAR PROTOCOLS. 2021;2(2):100528

Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro.

Calvo-Garrido J; Winn D; Maffezzini C; Wedell A; Freyer C; Falk A; Wredenberg A
Article: NEUROLOGY-GENETICS. 2021;7(2):e566

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.

Bruhn H; Samuelsson K; Schober FA; Engvall M; Lesko N; Wibom R; Nennesmo I; Calvo-Garrido J; Press R; Stranneheim H; Freyer C; Wedell A; Wredenberg A
Article: HUMAN MUTATION. 2021;42(4):378-384

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

Correia SP; Moedas MF; Naess K; Bruhn H; Maffezzini C; Calvo-Garrido J; Lesko N; Wibom R; Schober FA; Jemt A; Stranneheim H; Freyer C; Wedell A; Wredenberg A
Article: GENOME MEDICINE. 2021;13(1):40

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: SCIENCE ADVANCES. 2021;7(8):eabf0717

The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters.

Rosenberger FA; Moore D; Atanassov I; Moedas MF; Clemente P; Végvári Á; Fissi NE; Filograna R; Bucher A-L; Hinze Y; The M; Hedman E; Chernogubova E; Begzati A; Wibom R; Jain M; Nilsson R; Käll L; Wedell A; Freyer C; Wredenberg A
Article: NUCLEIC ACIDS RESEARCH. 2021;49(1):354-370

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly.

Cipullo M; Pearce SF; Lopez Sanchez IG; Gopalakrishna S; Krüger A; Schober F; Busch JD; Li X; Wredenberg A; Atanassov I; Rorbach J
Article: MOLECULAR & CELLULAR PROTEOMICS. 2021;20:100065

Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits.

Rosenberger FA; Atanassov I; Moore D; Calvo-Garrido J; Moedas MF; Wedell A; Freyer C; Wredenberg A
Article: FRONTIERS IN NEUROLOGY. 2021;12:652590

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).

Engvall M; Kawasaki A; Carelli V; Wibom R; Bruhn H; Lesko N; Schober FA; Wredenberg A; Wedell A; Träisk F
Article: METHODS IN MOLECULAR BIOLOGY. 2021;2192:75-87

Quantitative Proteomics in Drosophila with Holidic Stable-Isotope Labeling of Amino Acids in Fruit Flies (SILAF).

Schober FA; Atanassov I; Freyer C; Wredenberg A
Article: JOURNAL OF PEDIATRICS. 2021;228:240-251.e2

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

Naess K; Bruhn H; Stranneheim H; Freyer C; Wibom R; Mourier A; Engvall M; Nennesmo I; Lesko N; Wredenberg A; Wedell A; von Döbeln U
Article: NEUROLOGY-GENETICS. 2020;6(4):e478

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.

Stödberg T; Magnusson M; Lesko N; Wredenberg A; Martin Munoz D; Stranneheim H; Wedell A
Article: EMBO MOLECULAR MEDICINE. 2020;12(7):e11659

FBXL4 deficiency increases mitochondrial removal by autophagy.

Alsina D; Lytovchenko O; Schab A; Atanassov I; Schober FA; Jiang M; Koolmeister C; Wedell A; Taylor RW; Wredenberg A; Larsson N-G
Article: NUCLEIC ACIDS RESEARCH. 2019;47(17):9386-9399

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis.

Gopalakrishna S; Pearce SF; Dinan AM; Schober FA; Cipullo M; Spåhr H; Khawaja A; Maffezzini C; Freyer C; Wredenberg A; Atanassov I; Firth AE; Rorbach J
Article: PLOS GENETICS. 2019;15(7):e1008240

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.

Pajak A; Laine I; Clemente P; El-Fissi N; Schober FA; Maffezzini C; Calvo-Garrido J; Wibom R; Filograna R; Dhir A; Wedell A; Freyer C; Wredenberg A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e654

Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy.

Maffezzini C; Laine I; Dallabona C; Clemente P; Calvo-Garrido J; Wibom R; Naess K; Barbaro M; Falk A; Donnini C; Freyer C; Wredenberg A; Wedell A
Article: STEM CELL REPORTS. 2019;12(4):696-711

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.

Calvo-Garrido J; Maffezzini C; Schober FA; Clemente P; Uhlin E; Kele M; Stranneheim H; Lesko N; Bruhn H; Svenningsson P; Falk A; Wedell A; Freyer C; Wredenberg A
Article: SCIENCE ADVANCES. 2019;5(4):eaav9824

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse.

Filograna R; Koolmeister C; Upadhyay M; Pajak A; Clemente P; Wibom R; Simard ML; Wredenberg A; Freyer C; Stewart JB; Larsson NG
Article: DIABETES. 2019;68(4):709-723

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate.

Katsu-Jiménez Y; Vázquez-Calvo C; Maffezzini C; Halldin M; Peng X; Freyer C; Wredenberg A; Giménez-Cassina A; Wedell A; Arnér ESJ
Article: NATURE COMMUNICATIONS. 2019;10(1):1396

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M; Engvall M; Ravenscroft G; Cabrera-Serrano M; Jiao H; Bortolotti CA; Pignataro M; Lambrughi M; Jiang H; Forrest ARR; Benseny-Cases N; Hofbauer S; Obinger C; Battistuzzi G; Bellei M; Borsari M; Di Rocco G; Viola HM; Hool LC; Cladera J; Lagerstedt-Robinson K; Xiang F; Wredenberg A; Miralles F; Baiges JJ; Malfatti E; Romero NB; Streichenberger N; Vial C; Claeys KG; Straathof CSM; Goris A; Freyer C; Lammens M; Bassez G; Kere J; Clemente P; Sejersen T; Udd B; Vidal N; Ferrer I; Edström L; Wedell A; Laing NG
Article: NATURE COMMUNICATIONS. 2018;9(1):3966

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis.

Richter U; Evans ME; Clark WC; Marttinen P; Shoubridge EA; Suomalainen A; Wredenberg A; Wedell A; Pan T; Battersby BJ
Article: MOLECULAR GENETICS AND METABOLISM. 2017;121(3):216-223

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Herebian D; Seibt A; Smits SHJ; Bünning G; Freyer C; Prokisch H; Karall D; Wredenberg A; Wedell A; López LC; Mayatepek E; Distelmaier F
Article: HUMAN MOLECULAR GENETICS. 2017;26(13):2515-2525

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

Siibak T; Clemente P; Bratic A; Bruhn H; Kauppila TES; Macao B; Schober FA; Lesko N; Wibom R; Naess K; Nennesmo I; Wedell A; Peter B; Freyer C; Falkenberg M; Wredenberg A
Article: ORPHANET JOURNAL OF RARE DISEASES. 2017;12(1):73

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Tegelberg S; Tomašić N; Kallijärvi J; Purhonen J; Elmér E; Lindberg E; Nord DG; Soller M; Lesko N; Wedell A; Bruhn H; Freyer C; Stranneheim H; Wibom R; Nennesmo I; Wredenberg A; Eklund EA; Fellman V
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(3):735-743

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

Haack TB; Ignatius E; Calvo-Garrido J; Iuso A; Isohanni P; Maffezzini C; Lönnqvist T; Suomalainen A; Gorza M; Kremer LS; Graf E; Hartig M; Berutti R; Paucar M; Svenningsson P; Stranneheim H; Brandberg G; Wedell A; Kurian MA; Hayflick SA; Venco P; Tiranti V; Strom TM; Dichgans M; Horvath R; Holinski-Feder E; Freyer C; Meitinger T; Prokisch H; Senderek J; Wredenberg A; Carroll CJ; Klopstock T
Article: PLOS GENETICS. 2016;12(5):e1006028

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation.

Bratic A; Clemente P; Calvo-Garrido J; Maffezzini C; Felser A; Wibom R; Wedell A; Freyer C; Wredenberg A
Article: HUMAN MOLECULAR GENETICS. 2015;24(23):6580-6587

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.

Gineste C; Hernandez A; Ivarsson N; Cheng AJ; Naess K; Wibom R; Lesko N; Bruhn H; Wedell A; Freyer C; Zhang S-J; Carlström M; Lanner JT; Andersson DC; Bruton JD; Wredenberg A; Westerblad H
Article: NATURE COMMUNICATIONS. 2015;6:8808

Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies.

Bratic A; Kauppila TES; Macao B; Grönke S; Siibak T; Stewart JB; Baggio F; Dols J; Partridge L; Falkenberg M; Wredenberg A; Larsson N-G
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;97(5):761-768

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Kishita Y; Pajak A; Bolar NA; Marobbio CMT; Maffezzini C; Miniero DV; Monné M; Kohda M; Stranneheim H; Murayama K; Naess K; Lesko N; Bruhn H; Mourier A; Wibom R; Nennesmo I; Jespers A; Govaert P; Ohtake A; Van Laer L; Loeys BL; Freyer C; Palmieri F; Wredenberg A; Okazaki Y; Wedell A
Article: JOURNAL OF MEDICAL GENETICS. 2015;52(11):779-783

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

Freyer C; Stranneheim H; Naess K; Mourier A; Felser A; Maffezzini C; Lesko N; Bruhn H; Engvall M; Wibom R; Barbaro M; Hinze Y; Magnusson M; Andeer R; Zetterström RH; von Döbeln U; Wredenberg A; Wedell A
Article: NUCLEIC ACIDS RESEARCH. 2015;43(15):7398-7413

SUV3 helicase is required for correct processing of mitochondrial transcripts.

Clemente P; Pajak A; Laine I; Wibom R; Wedell A; Freyer C; Wredenberg A
Article: BMC GENOMICS. 2014;15(1):1090

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

Stranneheim H; Engvall M; Naess K; Lesko N; Larsson P; Dahlberg M; Andeer R; Wredenberg A; Freyer C; Barbaro M; Bruhn H; Emahazion T; Magnusson M; Wibom R; Zetterström RH; Wirta V; von Döbeln U; Wedell A
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Acuna-Hidalgo R; Schanze D; Kariminejad A; Nordgren A; Kariminejad MH; Conner P; Grigelioniene G; Nilsson D; Nordenskjöld M; Wedell A; Freyer C; Wredenberg A; Wieczorek D; Gillessen-Kaesbach G; Kayserili H; Elcioglu N; Ghaderi-Sohi S; Goodarzi P; Setayesh H; van de Vorst M; Steehouwer M; Pfundt R; Krabichler B; Curry C; MacKenzie MG; Boycott KM; Gilissen C; Janecke AR; Hoischen A; Zenker M
Article: PLOS GENETICS. 2013;9(1):e1003178

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals.

Wredenberg A; Lagouge M; Bratic A; Metodiev MD; Spåhr H; Mourier A; Freyer C; Ruzzenente B; Tain L; Grönke S; Baggio F; Kukat C; Kremmer E; Wibom R; Polosa PL; Habermann B; Partridge L; Park CB; Larsson N-G
Article: EMBO JOURNAL. 2012;31(2):443-456

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.

Ruzzenente B; Metodiev MD; Wredenberg A; Bratic A; Park CB; Cámara Y; Milenkovic D; Zickermann V; Wibom R; Hultenby K; Erdjument-Bromage H; Tempst P; Brandt U; Stewart JB; Gustafsson CM; Larsson N-G
Article: PLOS GENETICS. 2011;7(10):e1002324

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster.

Bratic A; Wredenberg A; Grönke S; Stewart JB; Mourier A; Ruzzenente B; Kukat C; Wibom R; Habermann B; Partridge L; Larsson N-G
Article: CELL METABOLISM. 2009;10(2):131-138

Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice.

Edgar D; Shabalina I; Camara Y; Wredenberg A; Calvaruso MA; Nijtmans L; Nedergaard J; Cannon B; Larsson N-G; Trifunovic A
Article: HUMAN MOLECULAR GENETICS. 2009;18(2):278-288

Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy.

Aydin J; Andersson DC; Hänninen SL; Wredenberg A; Tavi P; Park CB; Larsson N-G; Bruton JD; Westerblad H
Article: PLOS BIOLOGY. 2008;6(1):63-71

Strong purifying selection in transmission of mammalian mitochondrial DNA.

Stewart JB; Freyer C; Elson JL; Wredenberg A; Cansu Z; Trifunovic A; Larsson N-G
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2006;350(1):202-207

Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance.

Wredenberg A; Freyer C; Sandström ME; Katz A; Wibom R; Westerblad H; Larsson N-G
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2005;102(50):17993-17998

Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production.

Trifunovic A; Hansson A; Wredenberg A; Rovio AT; Dufour E; Khvorostov I; Spelbrink JN; Wibom R; Jacobs HT; Larsson N-G
Article: NATURE. 2004;429(6990):417-423

Premature ageing in mice expressing defective mitochondrial DNA polymerase.

Trifunovic A; Wredenberg A; Falkenberg M; Spelbrink JN; Rovio AT; Bruder CE; Bohlooly-Y M; Gidlöf S; Oldfors A; Wibom R; Törnell J; Jacobs HT; Larsson N-G
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2002;99(23):15066-15071

Increased mitochondrial mass in mitochondrial myopathy mice.

Wredenberg A; Wibom R; Wilhelmsson H; Graff C; Wiener HH; Burden SJ; Oldfors A; Westerblad H; Larsson N-G
Article: PRENATAL DIAGNOSIS. 2000;20(5):426-431

Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA.

Graff C; Wredenberg A; Silva JP; Bui TH; Borg K; Larsson NG
Article: JOURNAL OF REHABILITATION MEDICINE. 1999;31(1):9-16

Effects of high resistance training in patients with myotonic dystrophy.

Tollbäck A; Eriksson S; Wredenberg A; Jenner G; Vargas R; Borg K; Ansved T
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All other publications

Review: CELLULAR AND MOLECULAR LIFE SCIENCES. 2020;77(13):2483-2496

Metabolic regulation of neurodifferentiation in the adult brain.

Maffezzini C; Calvo-Garrido J; Wredenberg A; Freyer C
Editorial comment: NEUROLOGY. 2018;91(15):710-712

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations.

Paucar M; Pajak A; Freyer C; Bergendal Å; Döry M; Laffita-Mesa JM; Stranneheim H; Lagerstedt-Robinson K; Savitcheva I; Walker RH; Wedell A; Wredenberg A; Svenningsson P

Employments

Professor/Specialist Physician, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 2024-
Principal Researcher, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 2022-2024

Degrees and Education

Doctor Of Philosophy, Department of Laboratory Medicine, Karolinska Institutet, 2007
University Medical Degree, Karolinska Institutet, 2004
Bachelor Of Science In Physiotherapy, Karolinska Institutet, 1996

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