| 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, SPG7
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| SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.
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| Almontashiri NA, Chen HH, Mailloux RJ, Tatsuta T, Teng AC, Mahmoud AB, Ho T, Stewart NA, Rippstein P, Harper ME, Roberts R, Willenborg C, Erdmann J; CARDIoGRAM Consortium, Pastore A, McBride HM, Langer T, Stewart AF.
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| Cell Rep 7(3):834-47. doi: 10.1016/j.celrep.2014.03.051. Epub 2014 Apr 24.
2014
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| 6 | 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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| 7 | AFG3L2
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| AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
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| Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI.
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| J Clin Invest 122(11):4048-58. doi: 10.1172/JCI64604. Epub 2012 Oct 8.
2012
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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | AFG3L2, SPG7
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| Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.
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| Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, Quattrini A, Casari G, Rugarli EI.
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| Hum Mol Genet 18(11):2001-13. Epub 2009 Mar 16.
2009
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| 12 | AFG3L1, AFG3L2, PMPCB
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| Autocatalytic processing of m-AAA protease subunits in mitochondria.
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| Koppen M, Bonn F, Ehses S, Langer T.
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| Mol Biol Cell 20(19):4216-24. doi: 10.1091/mbc.E09-03-0218. Epub 2009 Aug 5.
2009
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| 13 | AFG3L2
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| The mitochondrial protease AFG3L2 is essential for axonal development.
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| Maltecca F, Aghaie A, Schroeder DG, Cassina L, Taylor BA, Phillips SJ, Malaguti M, Previtali S, Guénet JL, Quattrini A, Cox GA, Casari G.
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| J Neurosci 28(11):2827-36.PMID: 18337413 2008
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| 14 | AFG3L2
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| Identification and characterization of AFG3L2, a novel paraplegin-related gene.
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| Banfi S, et al.
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| Genomics 59(1):51-8. 1999
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| 15 | AFG3L1, AFG3L2, NSF, NVL, PBD2, PEX1, PEX6, PSMC1, PSMC2, PSMC3, PSMC4, PSMC5, PSMC6, VPS4B, SPAST, VCP
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| AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes.
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| Neuwald AF, Aravind L, Spouge JL, Koonin EV.
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| Genome Res 9(1):27-43 1999
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