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Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon

Jelena Pozojevic, Shela Marie Algodon, Joseph Neos Cruz, Joanne Trinh, Norbert Brüggemann, Joshua Laß, Karen Grütz, Susen Schaake, Ronnie Tse, Veronica Yumiceba, Nathalie Kruse, Kristin Schulz, Varun K. A. Sreenivasan, Raymond L. Rosales, Roland Dominic G. Jamora, Cid Czarina E. Diesta, Jakob Matschke, Markus Glatzel, Philip Seibler, Kristian Händler, Aleksandar Rakovic, Henriette Kirchner, Malte Spielmann, Frank J. Kaiser, Christine Klein and Ana Westenberger
Int J Mol Sci. 2022 Feb 17;23(4):2231. doi: 10.3390/ijms23042231.
https://pubmed.ncbi.nlm.nih.gov/35216353/

Parkinson’s Disease Phenotypes in Patient Neuronal Cultures and Brain Organoids Improved by 2-Hydroxypropyl-β-Cyclodextrin Treatment

Javier Jarazo, Kyriaki Barmpa, Jennifer Modamio, Cláudia Saraiva, Sònia Sabaté-Soler, Isabel Rosety, Anne Griesbeck, Florian Skwirblies, Gaia Zaffaroni, Lisa M Smits, Jihui Su, Jonathan Arias-Fuenzalida, Jonas Walter, Gemma Gomez-Giro, Anna S Monzel, Xiaobing Qing, Armelle Vitali, Gerald Cruciani, Ibrahim Boussaad, Francesco Brunelli, Christian Jäger, Aleksandar Rakovic, Wen Li, Lin Yuan, Emanuel Berger, Giuseppe Arena, Silvia Bolognin, Ronny Schmidt, Christoph Schröder, Paul M A Antony, Christine Klein, Rejko Krüger, Philip Seibler, Jens C Schwamborn
Mov Disord. 2022 Jan;37(1):80-94. doi: 10.1002/mds.28810. Epub 2021 Oct 12.
https://pubmed.ncbi.nlm.nih.gov/34637165/

Evidence for correlations between BMI-associated SNPs and circRNAs.

Rajcsanyi LS, Diebels I, Pastoors L, Kanber D, Peters T, Volckmar AL, Zheng Y, Grosse M, Dieterich C, Hebebrand J, Kaiser FJ, Horsthemke B, Hinney A.
Sci Adv. 2022 Mar 11;8(10):eabj9229. doi: 10.1126/sciadv.abj9229. Epub 2022 Mar 11.
https://pubmed.ncbi.nlm.nih.gov/35879369/

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing

Theresa Lüth, Joshua Laβ, Susen Schaake, Inken Wohlers, Jelena Pozojevic, Roland Dominic G Jamora, Raymond L Rosales, Norbert Brüggemann, Gerard Saranza, Cid Czarina E Diesta, Kathleen Schlüter, Ronnie Tse, Charles Jourdan Reyes, Max Brand, Hauke Busch, Christine Klein, Ana Westenberger, Joanne Trinh
Genes (Basel). 2022 Jan 11;13(1):126. doi: 10.3390/genes13010126.
https://pubmed.ncbi.nlm.nih.gov/35052466/

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C.
Nat Commun. 2022
https://pubmed.ncbi.nlm.nih.gov/36323681/

A Multi-center Genome-wide Association Study of Cervical Dystonia

Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Krämer UM, Neis M, Bäumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kühn AA, Borngräber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA.
Mov Disord. 2021 Dec;36(12):2795-2801. doi: 10.1002/mds.28732. Epub 2021 Jul 28.
https://pubmed.ncbi.nlm.nih.gov/34320236/

Therapies for Genetic Forms of Parkinson’s Disease: Systematic Literature Review

Over L, Brüggemann N, Lohmann K
J Neuromuscul Dis. 2021;8(3):341-356. doi: 10.3233/JND-200598.
https://pubmed.ncbi.nlm.nih.gov/33459660/

Genetic and Environmental Factors in Parkinson’s Disease Converge on Immune Function and Inflammation

Kline EM, Houser MC, Herrick MK, Seibler P, Klein C, West A, Tansey MG
Mov Disord. 2021 Jan;36(1):25-36. doi: 10.1002/mds.28411. Epub 2020 Dec 14.
https://pubmed.ncbi.nlm.nih.gov/33314312/

Validity and Prognostic Value of a Polygenic Risk Score for Parkinson’s Disease

Sebastian Koch, Björn-Hergen Laabs, Meike Kasten, Eva-Juliane Vollstedt, Jos Becktepe, Norbert Brüggemann, Andre Franke, Ulrike M Krämer, Gregor Kuhlenbäumer, Wolfgang Lieb, Brit Mollenhauer, Miriam Neis, Claudia Trenkwalder, Eva Schäffer, Tatiana Usnich 4 , Michael Wittig 7 , Christine Klein, Inke R König, Katja Lohmann, Michael Krawczak, Amke Caliebe
Genes (Basel). 2021 Nov 23;12(12):1859. doi: 10.3390/genes12121859.
https://pubmed.ncbi.nlm.nih.gov/34946808/

Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review

Alexander Balck, Susen Schaake, Neele Sophie Kuhnke, Aloysius Domingo, Harutyun Madoev, Jason Margolesky, Valerija Dobricic, Daniel Alvarez-Fischer, Björn-Hergen Laabs, Meike Kasten, Wei Luo, Gael Nicolas, Connie Marras, Katja Lohmann, Christine Klein, Ana Westenberger
Mov Disord. 2021 Nov;36(11):2468-2480. doi: 10.1002/mds.28753. Epub 2021 Aug 25.
https://pubmed.ncbi.nlm.nih.gov/34432325/

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