BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

275 related articles for article (PubMed ID: 23041622)

  • 1. 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; 122(11):4048-58. PubMed ID: 23041622
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.
    Franchino CA; Brughera M; Baderna V; De Ritis D; Rocco A; Seneca S; Regal L; Podini P; D'Antonio M; Toro C; Quattrini A; Scalais E; Maltecca F
    Brain; 2024 Mar; 147(3):1043-1056. PubMed ID: 37804316
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 19(12):. PubMed ID: 30544562
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
    Calandra CR; Buda G; Vishnopolska SA; Oliveri J; Olivieri FA; Pérez Millán MI; Biagioli G; Miquelini LA; Pellene AL; Marti MA
    Parkinsonism Relat Disord; 2020 Apr; 73():52-54. PubMed ID: 32248051
    [No Abstract]   [Full Text] [Related]  

  • 8. Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration.
    Murru S; Hess S; Barth E; Almajan ER; Schatton D; Hermans S; Brodesser S; Langer T; Kloppenburg P; Rugarli EI
    Glia; 2019 Aug; 67(8):1526-1541. PubMed ID: 30989755
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
    Mancini C; Hoxha E; Iommarini L; Brussino A; Richter U; Montarolo F; Cagnoli C; Parolisi R; Gondor Morosini DI; Nicolò V; Maltecca F; Muratori L; Ronchi G; Geuna S; Arnaboldi F; Donetti E; Giorgio E; Cavalieri S; Di Gregorio E; Pozzi E; Ferrero M; Riberi E; Casari G; Altruda F; Turco E; Gasparre G; Battersby BJ; Porcelli AM; Ferrero E; Brusco A; Tempia F
    Neurobiol Dis; 2019 Apr; 124():14-28. PubMed ID: 30389403
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 56(8):499-511. PubMed ID: 30910913
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.
    Maltecca F; Baseggio E; Consolato F; Mazza D; Podini P; Young SM; Drago I; Bahr BA; Puliti A; Codazzi F; Quattrini A; Casari G
    J Clin Invest; 2015 Jan; 125(1):263-74. PubMed ID: 25485680
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 29(29):9244-54. PubMed ID: 19625515
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.
    Maltecca F; De Stefani D; Cassina L; Consolato F; Wasilewski M; Scorrano L; Rizzuto R; Casari G
    Hum Mol Genet; 2012 Sep; 21(17):3858-70. PubMed ID: 22678058
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.
    Wang S; Jacquemyn J; Murru S; Martinelli P; Barth E; Langer T; Niessen CM; Rugarli EI
    PLoS Genet; 2016 Dec; 12(12):e1006463. PubMed ID: 27911893
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 42(4):313-21. PubMed ID: 20208537
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autocatalytic processing of m-AAA protease subunits in mitochondria.
    Koppen M; Bonn F; Ehses S; Langer T
    Mol Biol Cell; 2009 Oct; 20(19):4216-24. PubMed ID: 19656850
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mitochondrial stress response triggered by defects in protein synthesis quality control.
    Richter U; Ng KY; Suomi F; Marttinen P; Turunen T; Jackson C; Suomalainen A; Vihinen H; Jokitalo E; Nyman TA; Isokallio MA; Stewart JB; Mancini C; Brusco A; Seneca S; Lombès A; Taylor RW; Battersby BJ
    Life Sci Alliance; 2019 Feb; 2(1):. PubMed ID: 30683687
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 428():117600. PubMed ID: 34333379
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.