These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

93 related articles for article (PubMed ID: 16239134)

  • 1. Hereditary spastic paraplegia: respiratory choke or unactivated substrate?
    Claypool SM; Koehler CM
    Cell; 2005 Oct; 123(2):183-5. PubMed ID: 16239134
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria.
    Nolden M; Ehses S; Koppen M; Bernacchia A; Rugarli EI; Langer T
    Cell; 2005 Oct; 123(2):277-89. PubMed ID: 16239145
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia.
    Rugarli EI; Langer T
    Trends Mol Med; 2006 Jun; 12(6):262-9. PubMed ID: 16647881
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 163(4):777-87. PubMed ID: 14623864
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast.
    Pearce DA
    Hum Genet; 1999 Jun; 104(6):443-8. PubMed ID: 10453730
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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; 7(5):e36337. PubMed ID: 22563492
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 18(11):2001-13. PubMed ID: 19289403
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
    Tzoulis C; Denora PS; Santorelli FM; Bindoff LA
    J Neurol; 2008 Aug; 255(8):1142-4. PubMed ID: 18563470
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.
    Sambri I; Massa F; Gullo F; Meneghini S; Cassina L; Carraro M; Dina G; Quattrini A; Patanella L; Carissimo A; Iuliano A; Santorelli F; Codazzi F; Grohovaz F; Bernardi P; Becchetti A; Casari G
    EBioMedicine; 2020 Nov; 61():103050. PubMed ID: 33045469
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
    Casari G; De Fusco M; Ciarmatori S; Zeviani M; Mora M; Fernandez P; De Michele G; Filla A; Cocozza S; Marconi R; Dürr A; Fontaine B; Ballabio A
    Cell; 1998 Jun; 93(6):973-83. PubMed ID: 9635427
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
    Elleuch N; Depienne C; Benomar A; Hernandez AM; Ferrer X; Fontaine B; Grid D; Tallaksen CM; Zemmouri R; Stevanin G; Durr A; Brice A
    Neurology; 2006 Mar; 66(5):654-9. PubMed ID: 16534102
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 76(1-3):58-65. PubMed ID: 11549317
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
    Arnoldi A; Tonelli A; Crippa F; Villani G; Pacelli C; Sironi M; Pozzoli U; D'Angelo MG; Meola G; Martinuzzi A; Crimella C; Redaelli F; Panzeri C; Renieri A; Comi GP; Turconi AC; Bresolin N; Bassi MT
    Hum Mutat; 2008 Apr; 29(4):522-31. PubMed ID: 18200586
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional evaluation of paraplegin mutations by a yeast complementation assay.
    Bonn F; Pantakani K; Shoukier M; Langer T; Mannan AU
    Hum Mutat; 2010 May; 31(5):617-21. PubMed ID: 20186691
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
    Wedding IM; Koht J; Tran GT; Misceo D; Selmer KK; Holmgren A; Frengen E; Bindoff L; Tallaksen CM; Tzoulis C
    PLoS One; 2014; 9(1):e86340. PubMed ID: 24466038
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin.
    Mahoney CJ; Dharmadasa T; Huynh W; Halpern JP; Vucic S; Mowat D; Kiernan MC
    Muscle Nerve; 2020 Jul; 62(1):E44-E45. PubMed ID: 32270516
    [No Abstract]   [Full Text] [Related]  

  • 20. Molecular basis of inherited spastic paraplegias.
    Casari G; Rugarli E
    Curr Opin Genet Dev; 2001 Jun; 11(3):336-42. PubMed ID: 11377972
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.