| 1 | AFG3L2, SCA28
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| Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.
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| Maltecca F, Baseggio E, Consolato F, Mazza D, Podini P, Young SM Jr, Drago I, Bahr BA, Puliti A, Codazzi F, Quattrini A, Casari G.
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| J Clin Invest 125(1):263-74. doi: 10.1172/JCI74770. Epub 2014 Dec 8.
2015
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| 2 | AFG3L2, SCA28
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| Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.
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| Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW.
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| JAMA Neurol 72(1):106-11. doi: 10.1001/jamaneurol.2014.1753.
2015
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| 3 | AFG3L2, SCA28
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| A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
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| Löbbe AM, Kang JS, Hilker R, Hackstein H, Müller U, Nolte D.
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| J Mol Neurosci 52(4):493-6. doi: 10.1007/s12031-013-0187-1. Epub 2013 Nov 29.
2014
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| 4 | AFG3L2, SCA28
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| A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
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| Musova Z, Kaiserova M, Kriegova E, Fillerova R, Vasovcak P, Santava A, Mensikova K, Zumrova A, Krepelova A, Sedlacek Z, Kanovsky P.
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| Cerebellum 13(3):331-7. doi: 10.1007/s12311-013-0538-z.
2014
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| 5 | AFG3L2, SCA28, SPAX5
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| Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.
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| Maltecca F, De Stefani D, Cassina L, Consolato F, Wasilewski M, Scorrano L, Rizzuto R, Casari G.
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| Hum Mol Genet 21(17):3858-70. doi: 10.1093/hmg/dds214. Epub 2012 Jun 7.
2012
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| 6 | AFG3L2, SCA28
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| Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
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| Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C.
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| PLoS Genet 7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13.
2011
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| 7 | AFG3L2, SCA28
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| Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
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| Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F.
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| Nat Genet 42(4):313-21. Epub 2010 Mar 7.
2010
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| 8 | AFG3L2, SCA28
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| Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
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| Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V, Gillessen-Kaesbach G, Zühlke C.
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| Eur J Hum Genet 18(8):965-8. Epub 2010 Mar 31.PMID: 20354562 2010
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| 9 | SCA28
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| SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
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| Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, Grisoli M, Di Bella D, Migone N, Gellera C, Di Donato S, Brusco A.
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| Brain 129(Pt 1):235-42. Epub 2005 Oct 26. 2006
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