AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Autor: Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat

Publikováno v: AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathologica. Springer-Verlag

Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified bi-allel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fc78cc6dfddfc3f598c41b1aba5238
https://doi.org/10.1007/s00401-023-02579-9

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Autor: Erin Conboy, Catherine Nowak, Karen Stals, Elliot S. Stolerman, Brett Bostwick, Tiana M. Scott, Emma Wakeling, Cyril Mignot, Sian Ellard, Brittany C. Michel, Kayla Treat, Berrak Ugur, Jill A. Rosenfeld, Caroline Nava, Sally Ann Lynch, Victoria M. Pratt, Hugo J. Bellen, Aiko Otsubo, Michael F. Wangler, Jennifer Gass, John Herriges, Jennifer B. Phillips, Gaetan Lesca, Bo Yuan, Shinya Yamamoto, Scott Barish, Marjon van Slegtenhorst, Jessica Douglas, Dihong Zhou, Patrick Edery, David R. Murdock, Jeremy Wegner, Jose Camacho, Marie Faoucher, Boris Keren, Camerun Washington, Elena Perenthaler, Kendra Engleman, Francesco Vetrini, Anita Nikoncuk, Alfredo M. Valencia, Daryl A. Scott, Cigall Kadoch, Isabelle Thiffault, Tahsin Stefan Barakat, Chun-An Chen, Lance H. Rodan, Raymond J. Louie, Hongzheng Dai, Alice S. Brooks, Nazar Mashtalir, Monte Westerfield, Nora Shannon

Publikováno v: Am J Hum Genet
American Journal of Human Genetics, 107(6), 1096-1112. Cell Press

SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neurodevelopmental disorders characterized by developmental disability, coarse facial features, and fifth digit/nail hypoplasia that are caused by pathogenic variants in genes that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a2119984a12b57df62077f22734a60
https://doi.org/10.1016/j.ajhg.2020.11.003

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Autor: Eskeatnaf Mulugeta, Eva Medico Salsench, Elena Perenthaler, Herma C. van der Linde, Anita Nikoncuk, Ruizhi Deng, Kristina Lanko, Soheil Yousefi, Tahsin Stefan Barakat, Tjakko J. van Ham

Publikováno v: Genome Medicine, 13(1):162. BioMed Central Ltd.
Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-27 (2021)

Background Non-coding regulatory elements (NCREs), such as enhancers, play a crucial role in gene regulation, and genetic aberrations in NCREs can lead to human disease, including brain disorders. The human brain is a complex organ that is susceptibl

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http://www.scopus.com/inward/record.url?scp=85117573363&partnerID=8YFLogxK

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Additional file 1 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Autor: Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

Additional file 1: Fig. S1: Flow chart of integrative data analysis; Fig. S2: Derivation of pCRs and DAEs; Fig. S3: Enhancer-Gene predictions and target gene expression; Fig. S4: Features and motifs in DAEs and nDAEs; Fig. S5: Cell type specificity o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2704492df280a65e45d44b519c695676