Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Autor: Franchino, Camilla Aurora, Brughera, Martina, Baderna, Valentina, Ritis, Daniele De, Rocco, Alessandra, Seneca, Sara, Regal, Luc, Podini, Paola, D'Antonio, Maurizio, Toro, Camilo, Quattrini, Angelo, Scalais, Emmanuel, Maltecca, Francesca

Publikováno v: Brain: A Journal of Neurology; Mar2024, Vol. 147 Issue 3, p1043-1056, 14p

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.

Autor: Baderna, Valentina¹ (AUTHOR), Schultz, Joshua² (AUTHOR), Kearns, Lisa S.^3,4 (AUTHOR), Fahey, Michael² (AUTHOR), Thompson, Bryony A.⁵ (AUTHOR), Ruddle, Jonathan B.^3,4 (AUTHOR), Huq, Aamira^2,6 (AUTHOR), Maltecca, Francesca^1,7 (AUTHOR) maltecca.francesca@hsr.it

Publikováno v: Acta Neuropathologica Communications. 6/29/2020, Vol. 8 Issue 1, p1-8. 8p.

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Autor: Franchino CA; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Brughera M; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Baderna V; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., De Ritis D; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Rocco A; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Seneca S; Medical Center of Genetic, UZ-VUB, Vrije Universiteit Brussels, 1090 Brussels Jette, Belgium., Regal L; Pediatric Neurology and Metabolism, UZ-VUB, Vrije Universiteit Brussels, 1090 Brussels Jette, Belgium., Podini P; Experimental Neuropathology Unit, Division of Neuroscience and Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., D'Antonio M; Biology of Myelin Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Toro C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Quattrini A; Experimental Neuropathology Unit, Division of Neuroscience and Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Scalais E; Department of Pediatric, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, L1210 Luxembourg, Luxembourg., Maltecca F; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.; Università Vita-Salute San Raffaele, 20132 Milan, Italy.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Mar 01; Vol. 147 (3), pp. 1043-1056.