Article
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta neuropathologica - 1 Aug 2023
Deng Ruizhi, Medico-Salsench Eva, Nikoncuk Anita, Ramakrishnan Reshmi, Lanko Kristina, Kühn Nikolas A, van der Linde Herma C, Lor-Zade Sarah, Albuainain Fatimah, Shi Yuwei, Yousefi Soheil, Capo Ivan, van den Herik Evita Medici, van Slegtenhorst Marjon, van Minkelen Rick, Geeven Geert, Mulder Monique T, Ruijter George J G, Lütjohann Dieter, Jacobs Edwin H, Houlden Henry, Pagnamenta Alistair T, Metcalfe Kay, Jackson Adam, Banka Siddharth, De Simone Lenika, Schwaede Abigail, Kuntz Nancy, Palculict Timothy Blake, Abbas Safdar, Umair Muhammad, AlMuhaizea Mohammed, Colak Dilek, AlQudairy Hanan, Alsagob Maysoon, Pereira Catarina, Trunzo Roberta, Karageorgou Vasiliki, Bertoli-Avella Aida M, Bauer Peter, Bouman Arjan, Hoefsloot Lies H, van Ham Tjakko J, Issa Mahmoud, Zaki Maha S, Gleeson Joseph G, Willemsen Rob, Kaya Namik, Arold Stefan T, Maroofian Reza, Sanderson Leslie E, Barakat Tahsin Stefan
Abstract excerpt
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-allelic truncating variants in AMFR, encoding a RING-H2 finger E3 ubiquitin ligase anchored at the membrane of the endoplasmic reticulum (ER), in two previously...
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