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Journal Abstract Search

533 related items for PubMed ID: 22022284

  • 1. 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; 7(10):e1002325. PubMed ID: 22022284
    [Abstract] [Full Text] [Related]

  • 2. m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration.
    Patron M, Sprenger HG, Langer T.
    Cell Res; 2018 Mar; 28(3):296-306. PubMed ID: 29451229
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  • 3. 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; 39(12):2060-2071. PubMed ID: 30252181
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  • 4. Spinocerebellar Ataxia Type 28-Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2.
    Tunc S, Dulovic-Mahlow M, Baumann H, Baaske MK, Jahn M, Junker J, Münchau A, Brüggemann N, Lohmann K.
    Cerebellum; 2019 Aug; 18(4):817-822. PubMed ID: 31111429
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  • 5. Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.
    Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T.
    Mol Cell Biol; 2007 Jan; 27(2):758-67. PubMed ID: 17101804
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  • 6. 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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  • 7. 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 28; 42(4):313-21. PubMed ID: 20208537
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  • 8. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
    Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A.
    BMC Med Genet; 2015 Mar 19; 16():16. PubMed ID: 25927548
    [Abstract] [Full Text] [Related]

  • 9. AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.
    Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI.
    J Clin Invest; 2012 Nov 19; 122(11):4048-58. PubMed ID: 23041622
    [Abstract] [Full Text] [Related]

  • 10. Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.
    Chiang HL, Fuh JL, Tsai YS, Soong BW, Liao YC, Lee YC.
    J Neurol Sci; 2021 Sep 15; 428():117600. PubMed ID: 34333379
    [Abstract] [Full Text] [Related]

  • 11. Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
    Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F.
    J Med Genet; 2019 Aug 15; 56(8):499-511. PubMed ID: 30910913
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  • 14. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
    Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros C, Leber I, Ribai P, Pugliese L, Assalto C, Brice A, Migone N, Dürr A, Brusco A.
    Hum Mutat; 2010 Oct 15; 31(10):1117-24. PubMed ID: 20725928
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  • 17. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
    Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
    Intern Med; 2013 Oct 15; 52(14):1629-33. PubMed ID: 23857099
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  • 19. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
    Baderna V, Schultz J, Kearns LS, Fahey M, Thompson BA, Ruddle JB, Huq A, Maltecca F.
    Acta Neuropathol Commun; 2020 Jun 29; 8(1):93. PubMed ID: 32600459
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