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Stefan Marklund

Research qualifications: Docent

Contact

stefan.marklund@umu.se

+46 90 785 12 39

Works as

Professor at Department of Medical Biosciences Section: Clinical Chemistry

By 6M, vån 2, Sjukhusområdet Umeå universitet, 901 85 Umeå

SOD1 protein content in human central nervous system and peripheral tissues

Journal of Neurochemistry, John Wiley & Sons 2025, Vol. 169, (6)

Leykam, Laura; Jonsson, Andreas P.; Forsberg, Karin M. E.; et al.

Diverse effects of coexpression of human SOD1 variants on motor neuron disease

Human Molecular Genetics, Oxford University Press 2025, Vol. 34, (16) : 1380-1391

Tokuda, Eiichi; Leykam, Laura; Zetterström, Per; et al.

Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations

Neurobiology of Disease, Elsevier 2024, Vol. 202

Leykam, Laura; Forsberg, Karin; Nordström, Ulrika; et al.

A novel homozygous p.Ser69Pro SOD1 mutation causes severe young-onset ALS with decreased enzyme activity

Journal of Neurology, Springer 2023, Vol. 270 : 1770-1773

Fahmy, Nagia; Müller, Kathrin; Andersen, Peter Munch; et al.

Widespread CNS pathology in amyotrophic lateral sclerosis homozygous for the D90A SOD1 mutation

Acta Neuropathologica, Springer-Verlag New York 2023, Vol. 145, (1) : 13-28

Forsberg, Karin; Graffmo, Karin Sixtensdotter; Stenvall, Erica; et al.

Mutant SOD1 aggregates formed in vitro and in cultured cells are polymorphic and differ from those arising in the CNS

Journal of Neurochemistry, John Wiley & Sons 2023, Vol. 164, (1) : 77-93

Nordström, Ulrika; Lang, Lisa; Ekhtiari Bidhendi, Elaheh; et al.

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

Brain Communications, Oxford University Press 2023, Vol. 5, (1)

Park, Julien H.; Nordström, Ulrika; Tsiakas, Konstantinos; et al.

Analysis of proteome-wide degradation dynamics in ALS SOD1 iPSC-derived patient neurons reveals disrupted VCP homeostasis

Cell Reports, Elsevier 2023, Vol. 42, (10)

Tsioras, Konstantinos; Smith, Kevin C.; Edassery, Seby L.; et al.

Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity

Brain, Oxford University Press 2022, Vol. 145, (3) : 872-878

Ezer, Shlomit; Daana, Muhannad; Park, Julien H.; et al.

Alteration of Mitochondrial Integrity as Upstream Event in the Pathophysiology of SOD1-ALS

Cells, MDPI 2022, Vol. 11, (7)

Günther, René; Pal, Arun; Williams, Chloe; et al.

Peripheral administration of SOD1 aggregates does not transmit pathogenic aggregation to the CNS of SOD1 transgenic mice

Acta neuropathologica communications, BioMed Central 2021, Vol. 9, (1)

Keskin, Isil; Ekhtiari Bidhendi, Elaheh; Marklund, Matthew; et al.

ALS kan vara en prionsjukdom: Inklusioner av felvecklat SOD1-protein tycks finnas hos patienter med alla typer av ALS

Läkartidningen, Läkartidningen Förlag AB 2020, Vol. 117

Forsberg, Karin; Tjust, Anton E.; Zetterström, Per; et al.

Aggregate-selective antibody attenuates seeded aggregation but not spontaneously evolving disease in SOD1 ALS model mice

Acta neuropathologica communications, BMC 2020, Vol. 8, (1)

Lehmann, Manuela; Marklund, Matthew; Bolender, Anna-Lena; et al.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

New England Journal of Medicine, Massachusetts Medical Society 2019, Vol. 381, (5) : 486-488

Andersen, Peter M.; Hempel, Maja; Santer, René; et al.

Mutant SOD1 aggregates from human ventral horn transmit templated aggregation and fatal ALS-like disease

Brain Pathology, John Wiley & Sons 2019, Vol. 29 : 90-90

Brännström, Thomas; Andersen, Peter M.; Bergh, Johan; et al.

Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes

Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group Ltd 2019, Vol. 90, (8) : 861-869

Forsberg, Karin; Graffmo, Karin Sixtensdotter; Pakkenberg, Bente; et al.

The molecular pathogenesis of superoxide dismutase 1-linked ALS is promoted by low oxygen tension

Acta Neuropathologica, New York: Springer 2019, Vol. 138, (1) : 85-101

Keskin, Isil; Forsgren, Elin; Lehmann, Manuela; et al.

Long-term stability of the alcohol consumption biomarker phosphatidylethanol in erythrocytes at-80 degrees C

Clinical Mass Spectrometry, Elsevier 2019, Vol. 11 : 37-41

Lakso, Hans-Åke; Wuolikainen, Anna; Sundkvist, Anneli; et al.

Prion-like Properties of Misfolded Cu/Zn-superoxide Dismutase in Amyotrophic Lateral Sclerosis: Update and Perspectives

Yakugaku zasshi, Pharmaceutical Society of Japan 2019, Vol. 139, (7) : 1015-1019

Tokuda, Eiichi; Marklund, Stefan L.; Furukawa, Yoshiaki

A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms

Neurobiology of Aging, Elsevier 2018, Vol. 72

Canosa, Antonio; De Marco, Giovanni; Lomartire, Annarosa; et al.

Mutant superoxide dismutase aggregates from human spinal cord transmit amyotrophic lateral sclerosis

Acta Neuropathologica, Springer 2018, Vol. 136, (6) : 939-953

Ekhtiari Bidhendi, Elaheh; Bergh, Johan; Zetterström, Per; et al.

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis

Scientific Reports, Nature Publishing Group 2018, Vol. 8

Paré, Bastien; Lehmann, Manuela; Beaudin, Marie; et al.

Comprehensive analysis to explain reduced or increased SOD1 enzymatic activity in ALS patients and their relatives

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, TAYLOR & FRANCIS LTD 2017, Vol. 18, (5-6) : 457-463

Keskin, Isil; Birve, Anna; Berdynski, Mariusz; et al.

Pyrimethamine Significantly Lowers Cerebrospinal Fluid Cu/Zn Superoxide Dismutase in Amyotrophic Lateral Sclerosis Patients with SOD1 Mutations

Annals of Neurology, John Wiley & Sons 2017, Vol. 81, (6) : 837-848

Lange, Dale J.; Shahbazi, Mona; Silani, Vincenzo; et al.

Two superoxide dismutase prion strains transmit amyotrophic lateral sclerosis-like disease

Journal of Clinical Investigation, Vol. 126, (6) : 2249-2253

Ekhtiari Bidhendi, Elaheh; Bergh, Johan; Zetterström, Per; et al.

A 50bp deletion in the SOD1 promoter lowers enzyme expression but is not associated with ALS in Sweden

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 17, (5-6) : 452-457

Ingre, Caroline; Wuolikainen, Anna; Marklund, Stefan L.; et al.

Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients

PLOS ONE, Vol. 11, (2)

Keskin, Isil; Forsgren, Elin; Lange, Dale J.; et al.

Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase

Acta neuropathologica communications, Vol. 4

Tokuda, Eiichi; Brännström, Thomas; Andersen, Peter M.; et al.

NMR analysis of the CSF and plasma metabolome of rigorously matched amyotrophic lateral sclerosis, Parkinson's disease and control subjects

Metabolomics, Vol. 12, (6)

Wu, Junfang; Wuolikainen, Anna; Trupp, Miles; et al.

Multi-platform mass spectrometry analysis of the CSF and plasma metabolomes of rigorously matched amyotrophic lateral sclerosis, Parkinson's disease and control subjects

Molecular Biosystems, Vol. 12, (4) : 1287-1298

Wuolikainen, Anna; Jonsson, Pär; Ahnlund, Maria; et al.

Structural and kinetic analysis of protein-aggregate strains in vivo using binary epitope mapping

Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences 2015, Vol. 112, (14) : 4489-4494

Bergh, Johan; Zetterström, Per; Andersen, Peter M.; et al.

SOD1 aggregation in ALS mice shows simplistic test tube behavior

Proceedings of the National Academy of Sciences of the United States of America, Vol. 112, (32) : 9878-9883

Lang, Lisa; Zetterström, Per; Brännström, Thomas; et al.

Fecal calprotectin as a biomarker of intestinal graft versus host disease after allogeneic hematopoietic stem cell transplantation

Scientific Reports, Vol. 5 : 7920-

Lorenz, Fryderyk; Marklund, Stefan; Werner, Mårten; et al.

Plasma extracellular superoxide dismutase concentration, allelic variations in the SOD3 gene and risk of myocardial infarction and all-cause mortality in people with type 1 and type 2 diabetes

Cardiovascular Diabetology, BioMed Central 2015, Vol. 14

Mohammedi, Kamel; Bellili-Muñoz, Naïma; Marklund, Stefan L.; et al.

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

Human Molecular Genetics, Vol. 24, (11) : 3133-3142

Nordin, Angelica; Akimoto, Chizuru; Wuolikainen, Anna; et al.

Global structural motions from the strain of a single hydrogen bond

Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences 2013, Vol. 110, (10) : 3829-3834

Danielsson, Jens; Awad, Wael; Saraboji, Kadhirvel; et al.

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis

Human Molecular Genetics, Vol. 22, (1) : 51-60

Graffmo, Karin S.; Forsberg, Karin; Bergh, Johan; et al.

Pyrimethamine decreases levels of SOD1 in leukocytes and cerebrospinal fluid of ALS patients: A phase I pilot study

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, London: Informa Healthcare 2013, Vol. 14, (3) : 199-204

Lange, Dale J.; Andersen, Peter M.; Remanan, Rahul; et al.

Dysregulation of intracellular copper homeostasis is common to transgenic mice expressing human mutant superoxide dismutase-1s regardless of their copper-binding abilities

Neurobiology of Disease, Vol. 54 : 308-319

Tokuda, Eiichi; Okawa, Eriko; Watanabe, Shunsuke; et al.

Composition of soluble misfolded superoxide Dismutase-1 in murine models of Amyotrophic Lateral Sclerosis

Neuromolecular medicine, Vol. 15, (1) : 147-158

Zetterström, Per; Graffmo, Karin S.; Andersen, Peter M; et al.

Iron Biomarkers in Plasma, HFE Genotypes, and the Risk for Colorectal Cancer in a Prospective Setting

Diseases of the Colon & Rectum, Vol. 55, (3) : 337-344

Ekblom, Kim; Marklund, Stefan L.; Palmqvist, Richard; et al.

Cytotoxicity of Superoxide Dismutase 1 in Cultured Cells Is Linked to Zn2+ Chelation

PLOS ONE, Vol. 7, (4) : e36104-

Johansson, Ann-Sofi; Vestling, Monika; Zetterström, Per; et al.

Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation

AMYOTROPH LATERAL SC, London: Informa Healthcare 2012, Vol. 13, (6) : 567-569

Katz, Jonathan S.; Katzberg, Hans D.; Woolley, Susan C.; et al.

Nerve excitability changes related to axonal degeneration in amyotrophic lateral sclerosis: insights from the transgenic SOD1(G127X) mouse model

Experimental Neurology, Vol. 233, (1) : 408-420

Moldovan, Mihai; Alvarez, Susana; Pinchenko, Volodymyr; et al.

Clinical and Experimental Ophthalmology, Wiley-Blackwell 2012, Vol. 40, (8) : 813-820

Olofsson, Eva Maria; Marklund, Stefan L; Behndig, Anders

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS

Human Molecular Genetics, Vol. 21, (16) : 3568-3574

Synofzik, Matthis; Ronchi, Dario; Keskin, Isil; et al.

ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival

Journal of Neurology, Neurosurgery and Psychiatry, Vol. 83, (3) : 351-353

Weber, M; Neuwirth, C; Thierbach, J; et al.

ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations

Molecular Genetics and Metabolism, Elsevier 2012, Vol. 105, (3) : 472-478

Wuolikainen, Anna; Moritz, Thomas; Marklund, Stefan L; et al.

A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling

Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders, Vol. 12, (3) : 215-219

Brotherton, Terrell; Polak, Meraida; Kelly, Crystal; et al.

Iron stores and HFE genotypes are not related to increased risk of first-time myocardial infarction: a prospective nested case-referent study

International Journal of Cardiology, Vol. 150, (2) : 169-172

Ekblom, Kim; Marklund, Stefan L; Jansson, Jan-Håkan; et al.

View publications in DiVA

Research groups

Head of research

ALS Research Umeå

Head of research

Stefan Marklund Lab