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

Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease

Autor: Tjakko J. van Ham, Laia Montoliu-Gaya, Niklas Darin, Fredrik H. Sterky, Leslie E. Sanderson, Lars Schlotawa, Kalliopi Sofou, Maria Blomqvist, Jutta Gärtner, Emma Samuelsson, Jorge Asin Cayuela, Chris Mühlhausen, Kolja Meier, Tahsin Stefan Barakat, Debora Kaminski, Lotta Agholme

Publikováno v: EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
EMBO Molecular Medicine
EMBO Molecular Medicine, 13(5):e13376. Wiley-Blackwell

Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delayed myelin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d422989cd6775a67d23f79984c39c6ae
https://doi.org/10.15252/emmm.202013376

Blocking fatty acid–fueled mROS production within macrophages alleviates acute gouty inflammation

Autor: Bregina Pool, Elina Ashimbayeva, Jonathan W. Astin, Lisa M. Lawrence, Leslie E. Sanderson, Maarten van der Kroef, Jacquie L. Harper, Philip S. Crosier, Denver D. Britto, Nicola Dalbeth, Christopher J. Hall, Kathryn E. Crosier, Graham J. Lieschke

Gout is the most common inflammatory arthritis affecting men. Acute gouty inflammation is triggered by monosodium urate (MSU) crystal deposition in and around joints that activates macrophages into a proinflammatory state, resulting in neutrophil rec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61a8ea32c72b0dcb15d0eebd5267d6bf
https://europepmc.org/articles/PMC5919807/

Mitochondrial metabolism, reactive oxygen species, and macrophage function-fishing for insights

Autor: Christopher J. Hall, Kathryn E. Crosier, Leslie E. Sanderson, Philip S. Crosier

Publikováno v: Journal of Molecular Medicine. 92:1119-1128

Metabolism and defense mechanisms that protect against pathogens are two fundamental requirements for the survival of multicellular organisms. Research into metabolic disease has revealed these core mechanisms are highly co-dependent. This emerging f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff8d675e36996bfefe3054df3d2d8734
https://doi.org/10.1007/s00109-014-1186-6

An inducible transgene reports activation of macrophages in live zebrafish larvae

Autor: Leslie E. Sanderson, Christopher J. Hall, Jonathan W. Astin, Philip S. Crosier, Kathryn E. Crosier, An-Tzu Chien

Publikováno v: Developmental and comparative immunology. 53(1)

Macrophages are the most functionally heterogenous cells of the hematopoietic system. Given many diseases are underpinned by inappropriate macrophage activation, macrophages have emerged as a therapeutic target to treat disease. A thorough understand

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44bf179bd6c25a63d5e4ca84b2935203
https://pubmed.ncbi.nlm.nih.gov/26123890