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PUBMED FOR HANDHELDS

Journal Abstract Search


179 related items for PubMed ID: 20426821

  • 1. Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.
    Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F.
    BMC Neurosci; 2010 Apr 28; 11():55. PubMed ID: 20426821
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  • 2. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
    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.
    PLoS Genet; 2011 Oct 28; 7(10):e1002325. PubMed ID: 22022284
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  • 4. Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
    Magri S, Fracasso V, Plumari M, Alfei E, Ghezzi D, Gellera C, Rusmini P, Poletti A, Di Bella D, Elia AE, Pantaleoni C, Taroni F.
    Hum Mutat; 2018 Dec 28; 39(12):2060-2071. PubMed ID: 30252181
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  • 5. Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.
    Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, Quattrini A, Casari G, Rugarli EI.
    Hum Mol Genet; 2009 Jun 01; 18(11):2001-13. PubMed ID: 19289403
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  • 7. Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.
    Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G.
    J Neurosci; 2009 Jul 22; 29(29):9244-54. PubMed ID: 19625515
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  • 9. Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.
    Kremmidiotis G, Gardner AE, Settasatian C, Savoia A, Sutherland GR, Callen DF.
    Genomics; 2001 Aug 22; 76(1-3):58-65. PubMed ID: 11549317
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  • 10. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
    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.
    Nat Genet; 2010 Apr 22; 42(4):313-21. PubMed ID: 20208537
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  • 11. Autocatalytic processing of m-AAA protease subunits in mitochondria.
    Koppen M, Bonn F, Ehses S, Langer T.
    Mol Biol Cell; 2009 Oct 22; 20(19):4216-24. PubMed ID: 19656850
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  • 13. Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.
    Mancuso G, Barth E, Crivello P, Rugarli EI.
    PLoS One; 2012 Oct 22; 7(5):e36337. PubMed ID: 22563492
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  • 16. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.
    Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G.
    J Cell Biol; 2003 Nov 24; 163(4):777-87. PubMed ID: 14623864
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  • 17. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
    Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M.
    Int J Mol Sci; 2015 Oct 21; 16(10):25050-66. PubMed ID: 26506339
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  • 18. Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis.
    Cesnekova J, Rodinova M, Hansikova H, Zeman J, Stiburek L.
    Int J Mol Sci; 2018 Dec 07; 19(12):. PubMed ID: 30544562
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