Epigenome-wide association study of peripheral immune cell populations in Parkinson’s disease

Autor: Maren Stolp Andersen, Ingvild Sørum Leikfoss, Ina Skaara Brorson, Chiara Cappelletti, Conceicao Bettencourt, Mathias Toft, Lasse Pihlstrøm

Publikováno v: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-9 (2023)

Abstract Understanding the contribution of immune mechanisms to Parkinson’s disease pathogenesis is an important challenge, potentially of major therapeutic implications. To further elucidate the involvement of peripheral immune cells, we studied e

Externí odkaz: https://doaj.org/article/7c7490ae36d240ac887e8b06a5cc3b5f

Allele-specific expression of Parkinson’s disease susceptibility genes in human brain

Autor: Margrete Langmyhr, Sandra Pilar Henriksen, Chiara Cappelletti, Wilma D. J. van de Berg, Lasse Pihlstrøm, Mathias Toft

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)

Abstract Genome-wide association studies have identified genetic variation in genomic loci associated with susceptibility to Parkinson’s disease (PD), the most common neurodegenerative movement disorder worldwide. We used allelic expression profili

Externí odkaz: https://doaj.org/article/911000b21a6c43fa84edbe5866d2fd5f

Quantitative Proteomics Reveals Protein Dysregulation During T Cell Activation in Multiple Sclerosis Patients Compared to Healthy Controls

Autor: Hanne F. Harbo, Einar August Høgestøl, Oda Glomstad Kråbøl, Olav Mjaavatten, Valeria Vitelli, Ingvild Sørum Leikfoss, Chiara Cappelletti, Frode S. Berven, Anna Eriksson, Tone Berge, Steffan D. Bos, Ina Skaara Brorson

Publikováno v: Clinical Proteomics

Background Multiple sclerosis (MS) is an autoimmune, neurodegenerative disorder with a strong genetic component that acts in a complex interaction with environmental factors for disease development. CD4+ T cells are pivotal players in MS pathogenesis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9cc99a9c83df81362714525bc725a69
https://doi.org/10.21203/rs.3.rs-875961/v1

Allele-specific expression of Parkinson's disease susceptibility genes in human brain

Autor: Mathias Toft, Margrete Langmyhr, Sandra Pilar Henriksen, Chiara Cappelletti, Lasse Pihlstrøm, Wilma D.J. van de Berg

Publikováno v: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Langmyhr, M, Henriksen, S P, Cappelletti, C, van de Berg, W D J, Pihlstrom, L & Toft, M 2021, ' Allele-specific expression of Parkinson’s disease susceptibility genes in human brain ', Scientific Reports, vol. 11, no. 1, 504 . https://doi.org/10.1038/s41598-020-79990-9, https://doi.org/10.1038/s41598-020-79990-9
Scientific Reports, 11(1):504. Nature Publishing Group

Genome-wide association studies have identified genetic variation in genomic loci associated with susceptibility to Parkinson’s disease (PD), the most common neurodegenerative movement disorder worldwide. We used allelic expression profiling of gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a52a34937254d724a948b799b280ab
https://pubmed.ncbi.nlm.nih.gov/33436766

Missense mutations in DYT-TOR1A dystonia

Autor: Zafar Iqbal, Jeanette Koht, Mathias Toft, Inger Marie Skogseid, Sandra Pilar Henriksen, Chiara Cappelletti, Michael Bjørn Russel, Lasse Pihlstrøm, Osmar Norberto de Souza

Publikováno v: Neurology: Genetics

DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).1 The most frequent phenotype has childhood onset in a limb, spreading to generalized dy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91cba90c63922f76a814eabb3c50a40f
http://europepmc.org/articles/PMC6563516