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Umeå universitet
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Huvudmenyn dold.
Personalbild Stefan Marklund
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Stefan Marklund

Vetenskaplig meritering: Docent

Kontakt

E-post
stefan.marklund@umu.se
Plats
By 6M, vån 2, Sjukhusområdet Umeå universitet, 901 85 Umeå
Telefon
090-785 12 39

Verksam vid

Anknytning
Anknuten som professor emeritus till Institutionen för medicinsk biovetenskap Enhet: Klinisk kemi
Anknytning
Professor vid Institutionen för medicinsk biovetenskap Enhet: Klinisk kemi
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.
Enhanced age-related cataract in copper-zinc superoxide dismutase null mice
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.
Response to letter regarding article "Plasma bilirubin and UGT1A1*28 are not protective factors against first-time myocardial infarction in a prospective nested case-referent setting"
Circulation: Cardiovascular Genetics, Vol. 4, (1) : e2-
Ekblom, Kim; Marklund, Stefan L; Jansson, Jan-Håkan; et al.
Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis
Acta Neuropathologica, SpringerLink 2011, Vol. 121, (5) : 623-634
Forsberg, Karin; Andersen, Peter M; Marklund, Stefan L; et al.
Visa publikationer i DiVA

Forskargrupper

Forskningsledare
ALS-forskning Umeå
Forskningsledare
Stefan Marklunds labb