Hyrskyluoto A, Bruelle C, Lundh SH, Do HT, Kivinen J, Rappou E, Reijonen S, Waltimo T, Petersén Å, Lindholm D and Korhonen L.Human Molecular Genetics 23: 5928-5939 (2014)AbstractHuntington's disease (HD) is an autosomal inherited neurological disease caused by a CAG repeat expansion in the first exon of huntingtin gene encoding for the huntingtin protein (Htt). In HD there is an accumulation of in

https://www.huntington-research.lu.se/ubiquitin-specific-protease-14-reduces-cellular-aggregates-and-protects-against-mutant-huntingtin - 2025-07-11

Dickson E, Soylu-Kucharz R , Petersén Å and Björkqvist M. Mol Metab. 2022 Mar;57:101439. doi: 10.1016/j.molmet.2022.101439. Epub 2022 Jan 7. Abstract Objective In Huntington's disease (HD), the disease-causing huntingtin (HTT) protein is ubiquitously expressed and causes both central and peripheral pathology. In clinical HD, a higher body mass index has been associated with slower disease progress

https://www.huntington-research.lu.se/hypothalamic-expression-huntingtin-causes-distinct-metabolic-changes-huntingtons-disease-mice - 2025-07-11

Soylu-Kucharz R, Khoshnan A and Petersén Å. iScience 2022 Jan 19;25(2):103771. doi: 10.1016/j.isci.2022.103771. eCollection 2022 Feb 18. Abstract Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene. Metabolic changes are associated with HD progression, but underlying mechanisms are not fully known. As the IKKβ/NF-κB pathway is an

https://www.huntington-research.lu.se/ikkb-signaling-mediates-metabolic-changes-hypothalamus-huntingtons-disease-mouse-model-0 - 2025-07-11

Dickson E, Sai Dwijesha A, Andersson N, Lundh S, Björkqvist M, Petersén Å and Soylu-Kucharz R. Frontiers in Neuroscience. 2022 Nov 3;16:1027269. doi: 10.3389/fnins.2022.1027269. PMID: 36408416; PMCID: PMC9671106. Abstract Structural changes and neuropathology in the hypothalamus have been suggested to contribute to the non-motor manifestations of Huntington’s disease (HD), a neurodegenerative diso

https://www.huntington-research.lu.se/microarray-profiling-hypothalamic-gene-expression-changes-huntingtons-disease-mouse-models - 2025-07-11

Petersén Å1 and Kirik D2.1Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund SE-221 84, Sweden.2Brain Repair and Imaging in Neural Systems (BRAINS) Unit, Department of Experimental Medical Science, Lund University, Lund SE-221 84, Sweden.Journal of Clinical Investigation 17:1-3 (2014)AbstractA common form of the hyperkinetic movement disor

https://www.huntington-research.lu.se/twisting-mice-move-dystonia-field-forward - 2025-07-11

Hellem MNN, Cheong RY, Tonetto S, Vinther-Jensen T, Hendel RK, Larsen IU, Nielsen TT, Hjermind LE, Vogel A, Budtz-Jørgensen E, Petersén Å and Nielsen JE. Parkinsonism and Related Disorders. 99: 23-29 (2022).  Abstract Objective: Huntington's disease (HD) is an inherited neurodegenerative disease with motor, cognitive and psychiatric symptoms. Non-motor symptoms like depression and altered social c

https://www.huntington-research.lu.se/decreased-csf-oxytocin-relates-measures-social-cognitive-impairment-huntingtons-disease-patients - 2025-07-11

Bergh S, Cheong R Y, Petersén Å and Gabery S. Front. Mol. Neurosci., 14 September 2022; Sec. Molecular Signalling and Pathways; doi.org/10.3389/fnmol.2022.984317   Abstract Neurodegenerative disorders (NDDs) such as Huntington’s disease (HD) and the spectrum of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by progressive loss of selectively vulnerable popu

https://www.huntington-research.lu.se/oxytocin-huntingtons-disease-and-spectrum-amyotrophic-lateral-sclerosis-frontotemporal-dementia - 2025-07-11

Furby H, Moore S, Nordstroem A-L, Houghton R, Lambrelli D, Graham S, Svenningsson P and Petersén Å. Journal of Neurology. 270(2): 864-876 (2023) doi:10.1007/s00415-022-11418-y. Abstract Background: Huntington's disease (HD) is a rare, neurodegenerative disease and its complex motor, cognitive and psychiatric symptoms exert a lifelong clinical burden on both patients and their families. Objective:

https://www.huntington-research.lu.se/comorbidities-and-clinical-outcomes-adult-and-juvenile-onset-huntingtons-disease-study-linked - 2025-07-11

In June 2022, Sofia Bergh started her PhD studies in TNU supervised by Prof. Åsa Petersén. The overall aim of the PhD project is to investigate the cellular and molecular mechanisms of limbic system pathology of Huntington’s disease. Her first original research article is in press titled “Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington’s disease” in Neuropathol

https://www.huntington-research.lu.se/team/sofia-bergh-phd-student - 2025-07-11

Weydt P, Dupuis L and Petersen Å. Handbook of Clinical Neurology 157: 761-775 (2018) Abstract Huntington disease (HD) is a paradigmatic autosomal-dominant adult-onset neurodegenerative disease. Since the identification of an abnormal expansion of a trinucleotide repeat tract in the huntingtin gene as the underlying genetic defect, a broad range of transgenic animal models of the disease has become

https://www.huntington-research.lu.se/thermoregulatory-disorders-huntington-disease - 2025-07-11

Baldo B, Soylu R and Petersén ÅPLoS One 8(12) (2013)AbstractHuntington's disease (HD) is a fatal neurodegenerative disorder caused by an expanded polyglutamine repeat in the huntingtin protein. Neuropathology in the basal ganglia and in the cerebral cortex has been linked to the motor and cognitive symptoms whereas recent work has suggested that the hypothalamus might be involved in the metabolic

https://www.huntington-research.lu.se/maintenance-basal-levels-autophagy-huntingtons-disease-mouse-models-displaying-metabolic-dysfunction - 2025-07-11

Bergh S, Gabery S, Tonetto S, Kirik D, Petersén Å and Cheong RY. Neuropathology and Applied Neurobiology. 2023;49(2):e12891. doi:10.1111/nan.12891 [published correction appears in Neuropathol Appl Neurobiol. 2023 Jun;49(3):e12905]. Abstract Background: Early non-motor features including anxiety, depression and altered social cognition are present in Huntington's disease (HD). The underlying neurob

https://www.huntington-research.lu.se/effects-mutant-huntingtin-oxytocin-neurons-non-motor-features-huntingtons-disease - 2025-07-11

In May 2022, Karin Dalene Skarping started her PhD studies in TNU supervised by Prof. Åsa Petersén. The overall aim of the PhD project is to study genetic mechanisms that may modify the disease course and pathology of Huntington disease. One of her current research projects is aimed to examine associations between germline pathogenic variants in mismatch-repair (MMR) genes and CAG-repeats in HTT,

https://www.huntington-research.lu.se/team/karin-dalene-skarping-phd-student - 2025-07-11

Sofia Hult Lundh1, Nathalie Nilsson1, Rana Soylu1, Deniz Kirik2 and Åsa Petersén1.1Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund SE-221 84, Sweden.2Brain Repair and Imaging in Neural Systems (BRAINS) Unit, Department of Experimental Medical Science, Lund University, Lund SE-221 84, Sweden.Human Molecular Genetics 22: 3485-3497 (2013)A

https://www.huntington-research.lu.se/hypothalamic-expression-mutant-huntingtin-contributes-development-depressive-behavior-bac-transgenic - 2025-07-11

Linda Holmquist Mengelbier is a paediatric cancer researcher who now, in parallel to her cancer effort, has started to work with the neurodegenerative disorders Huntington disease and ALS. Her focus in the cancer field has been on the embryonal pediatric solid tumors neuroblastoma and Wilms tumor. Neuroblastoma is a sympathetic nervous system tumor derived from the neural crest, whereas Wilms tumo

https://www.huntington-research.lu.se/team/linda-holmquist-mengelbier-phd - 2025-07-11

Soylu-Kucharz R, Adlesic N, Davidsson M, Björklund T, Björkqvist M and Petersén Å. bioRxiv 2023.03.04.530949; First published March 4, 2023, https://doi.org/10.1101/2023.03.04.530949 Abstract Huntington’s disease is a fatal neurodegenerative disorder caused by an expanded CAG triplet repeat in the huntingtin (HTT) gene. Previous research focused on neuropathology in the striatum and its associatio

https://www.huntington-research.lu.se/mutant-huntingtin-expression-hypothalamus-promotes-ventral-striatal-neuropathology - 2025-07-11

Dalene Skarping K, Arning L, Petersén Å, Nguyen HP and Gebre-Medhin S.Sci Rep. 2024;14(1):4300. Published 2024 Feb 21. doi:10.1038/s41598-024-54277-5AbstractDNA mismatch repair (MMR) is thought to contribute to the onset and progression of Huntington disease (HD) by promoting somatic expansion of the pathogenic CAG nucleotide repeat in the huntingtin gene (HTT). Here we have studied constitutional

https://www.huntington-research.lu.se/attenuated-huntingtin-gene-cag-nucleotide-repeat-size-individuals-lynch-syndrome - 2025-07-11

Lilja Andersson P, Juth N, Petersén Å, Graff C and Edberg AE.Lund University, Sweden.Nursing Ethics 20: 189-199 (2013)AbstractThe aim of this study was to describe the experiences of undergoing a presymptomatic genetic test for the hereditary and fatal Huntington’s disease, using a case study approach. The study was based on 18 interviews with a young woman and her husband from the decision to und

https://www.huntington-research.lu.se/ethical-aspects-undergoing-predictive-genetic-testing-huntingtons-disease - 2025-07-11

In 2024, Jennifer moved from Sydney, Australia to Lund, Sweden to start her PhD studies at the TNU, supervised by Pof. Åsa Petersén. In utilizing novel AAV-vectors and crossbreeding of animal models, Jennifer’s project aims to elucidate the specific hypothalamic circuitries important for the control of metabolism and emotion, with relevance to Huntington’s Disease, Amyotrophic Lateral Sclerosis an

https://www.huntington-research.lu.se/team/jennifer-oraha-phd-student - 2025-07-11

Lundh SH, Soylu R and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.PLoS ONE 7(12): e51168 (2012).AbstractMetabolic and psychiatric disturbances occur early on in the clinical manifestation of Huntington’s disease (HD), a neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin (HTT) gene. Hypot

https://www.huntington-research.lu.se/expression-mutant-huntingtin-leptin-receptor-expressing-neurons-does-not-control-metabolic-and - 2025-07-11