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Linda Holmquist Mengelbier, PhD

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 - 2025-08-01

Mutant huntingtin expression in the hypothalamus promotes ventral striatal neuropathology

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 - 2025-08-01

Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome

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 - 2025-08-01

Ethical aspects of undergoing a predictive genetic testing for Huntington’s disease

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 - 2025-08-01

Jennifer Oraha, PhD student

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 - 2025-08-01

Expression of Mutant Huntingtin in Leptin Receptor-Expressing Neurons Does Not Control the Metabolic and Psychiatric Phenotype of the BACHD Mouse

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 - 2025-08-01

For Better or for Worse: Lifeworld, System and Family Caregiving for a Chronic Genetic Disease

Hagen N, Lundin S, O'Dell T and Petersén Å.Culture Unbound 4: 537-557 (2012)AbstractModernity has meant a cultural and social differentiation within the western socie- ty, which, according to Jürgen Habermas’ theory on communication, can be seen as a division between different forms of actions that takes place in different realms of the society. By combining Habermas’ notions of lifeworld and sys

https://www.huntington-research.lu.se/better-or-worse-lifeworld-system-and-family-caregiving-chronic-genetic-disease - 2025-08-01

TDP-43 overexpression in the hypothalamus drives neuropathology, dysregulates metabolism and impairs behavior in mice

Bergh S, Casadei N, Gabery S, Simonsson O,  Duarte JMN, Kirik D, Nguyen HP and Petersén Å.Acta Neuropathologica Communications. 2025;13(1):119. Published 2025 May 27. doi:10.1186/s40478-025-02018-8AbstractTAR DNA-binding protein 43 (TDP-43) pathology is linked to the neurodegenerative disorders amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and Huntington disease (HD). Dysregul

https://www.huntington-research.lu.se/tdp-43-overexpression-hypothalamus-drives-neuropathology-dysregulates-metabolism-and-impairs - 2025-08-01

Characterization of a rat model of Huntington's disease based on targeted expression of mutant huntingtin in the forebrain using adeno-associated viral vectors

Gabery S, Sajjad MU, Hult S, Soylu R, Kirik D and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund, Sweden.Brain Repair and Imaging in Neural Systems (B.R.A.I.N.S.) Unit, Department of Experimental Medical Sciences, Lund University, Lund, Sweden.European Journal of Neuroscience 36(6):2789-800 (2012)AbstractHuntington's diseas

https://www.huntington-research.lu.se/characterization-rat-model-huntingtons-disease-based-targeted-expression-mutant-huntingtin-forebrain - 2025-08-01

Hypothalamic and limbic system changes in Huntington's disease

Petersen Å and Gabery S.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund, Sweden.Journal of Huntington's disease 1: 13-24 (2012)AbstractHuntington’s disease (HD) is a neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. Today, the clinical diagnosis of the disease requires unequivocal signs of typical moto

https://www.huntington-research.lu.se/hypothalamic-and-limbic-system-changes-huntingtons-disease - 2025-08-01

Progranulin bridges energy homeostasis and fronto-temporal dementia

Dupuis L1, 2, 3, Petersen A4, Weydt P31 Inserm U692, Laboratoire de Signalisations Moléculaires et Neurodégénérescence, 67085Strasbourg, France2 Université de Strasbourg, Faculté de Médecine, UMRS692, 67085Strasbourg, France3 Department of Neurology, Ulm University, 89081 Ulm, Germany4 Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, 22184Lu

https://www.huntington-research.lu.se/progranulin-bridges-energy-homeostasis-and-fronto-temporal-dementia - 2025-08-01

Mutant huntingtin causes metabolic imbalance by disruption of hypothalamic neurocircuits

Hult S*, Soylu R*, Björklund T, Belgardt B F, Mauer J, Brüning J C, Kirik D and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund 22184, Sweden.Cell Metabolism 13: 428-439 (2011) *equal contributionAbstractIn Huntington's disease (HD), the mutant huntingtin protein is ubiquitously expressed. The disease was considered to be li

https://www.huntington-research.lu.se/mutant-huntingtin-causes-metabolic-imbalance-disruption-hypothalamic-neurocircuits - 2025-08-01

Eating and hypothalamus changes in behavioral-variant frontotemporal dementia

Piguet O, Petersén A, Yin Ka Lam B, Gabery S, Murphy K, Hodges JR and Halliday GM.Neuroscience Research Australia, Sydney, Australia.Annals of Neurology 69: 312-319 (2011)AbstractOBJECTIVE: Behavioral-variant frontotemporal dementia (bvFTD) is a progressive neurodegenerative brain disorder, clinically characterized by changes in cognition, personality, and behavior. Marked disturbances in eating b

https://www.huntington-research.lu.se/eating-and-hypothalamus-changes-behavioral-variant-frontotemporal-dementia - 2025-08-01

Publications

2025Bergh S, Casadei N, Gabery S, Simonsson O,  Duarte JMN, Kirik D, Nguyen HP and Petersén Å.TDP-43 overexpression in the hypothalamus drives neuropathology, dysregulates metabolism and impairs behavior in mice.Acta Neuropathologica Communications. 2025;13(1):119. Published 2025 May 27. doi:10.1186/s40478-025-02018-8.2024Dalene Skarping K, Arning L, Petersén Å, Nguyen HP and Gebre-Medhin S.Attenu

https://www.huntington-research.lu.se/publications - 2025-08-01

Increased numbers of orexin/hypocretin neurons in a genetic rat depression model

Mikrouli E, Wörtwein G, Soylu R, Mathé AA and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, Lund 22184, Sweden.Neuropeptides 45(6): 401-406 (2011)AbstractThe Flinders Sensitive Line (FSL) rat is a genetic animal model of depression that displays characteristics similar to those of depressed patients including lower body weight,

https://www.huntington-research.lu.se/increased-numbers-orexinhypocretin-neurons-genetic-rat-depression-model - 2025-08-01

Impaired Nigrostriatal Dopaminergic Neurotransmission in Huntington’s Disease: Insights from the R6/1 Transgenic Mouse Model

Gil-Mohapel J, Brocardo PS, Smith R, Lagerkvist S, Li JY and Petersén Å.In H.T. Maldonado and I.M. Ortega (Eds.) Striatum: Anatomy, Functions and Role in Disease. New York, USA: Nova Publishers.AbstractBackground: Huntington’s disease (HD) is the most common polyglutamine neurodegenerative disorder. The mutation consists of an unstable expansion of CAG repeats within the coding region of the HD ge

https://www.huntington-research.lu.se/impaired-nigrostriatal-dopaminergic-neurotransmission-huntingtons-disease-insights-r61-transgenic - 2025-08-01

The Role of Hypothalamic and Neuroendocrine Changes in the Pathogenesis of Huntington’s Disease – Current Understanding and Implications for Future Treatments

Petersén Å.Department of Experimental Medical Science, Translational Neuroendocrine Research Unit, Lund University, Lund, Sweden.European Neurological Review 5: 49–53 (2010)AbstractHuntington’s disease (HD) is a hereditary neurodegenerative disorder that leads to premature death. There is no satisfactory treatment or cure. The disease is caused by an expanded CAG repeat in the huntingtin gene. The

https://www.huntington-research.lu.se/role-hypothalamic-and-neuroendocrine-changes-pathogenesis-huntingtons-disease-current-understanding - 2025-08-01

Changes in key hypothalamic neuropeptide populations in Huntington disease revealed by neuropathological analyses

Gabery S, Murphy K, Schultz K, Loy CT, McCusker E, Kirik D, Halliday G and Petersén Å.Translational Neuroendocrine Research Unit, Department of Experimental Medical Sciences, Lund University, BMC D11, 221 84, Lund, Sweden.Acta Neuropathologica 120: 777-788 (2010)AbstractHuntington disease (HD) is a fatal neurodegenerative disorder caused by expansion of a CAG repeat in the HD gene. Degeneration co

https://www.huntington-research.lu.se/changes-key-hypothalamic-neuropeptide-populations-huntington-disease-revealed-neuropathological - 2025-08-01

A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons

Braunstein KE, Eschbach J, Ròna-Vörös K, Soylu R, Mikrouli E, Larmet Y, Rene F, Gonzalez de Aguilar JL, Loeffler JP, Müller HP, Bucher S, Kaulisch T, Niessen HG, Tillmanns J, Fischer K, Schwalenstocker B, Kassubek J, Pichler B, Stiller D, Petersen A, Ludolph AC and Dupuis L.Department of Neurology, University of Ulm, Ulm, Germany.Human Molecular Genetics 19: 4385-4398 (2010)AbstractThe molecular m

https://www.huntington-research.lu.se/point-mutation-dynein-heavy-chain-gene-leads-striatal-atrophy-and-compromises-neurite-outgrowth - 2025-08-01

Early changes in the hypothalamic region in prodromal Huntington disease revealed by MRI analysis

Soneson C, Fontes M, Zhou Y, Denisov V, Paulsen JS, Kirik D and Petersén A; The Huntington Study Group PREDICT-HD investigators.Centre for Mathematical Sciences, Lund University, Sweden; Brain Repair and Imaging in Neural Systems, Department of Experimental Medical Science, BMC D11, Lund University, Sweden; Lund University Bioimaging Center, Lund University, Sweden.Neurobiology of Disease 40: 531-

https://www.huntington-research.lu.se/early-changes-hypothalamic-region-prodromal-huntington-disease-revealed-mri-analysis - 2025-08-01