324 related articles for article (PubMed ID: 14722615)
1. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.
Ferreirinha F; Quattrini A; Pirozzi M; Valsecchi V; Dina G; Broccoli V; Auricchio A; Piemonte F; Tozzi G; Gaeta L; Casari G; Ballabio A; Rugarli EI
J Clin Invest; 2004 Jan; 113(2):231-42. PubMed ID: 14722615
[TBL] [Abstract][Full Text] [Related]
2. SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency.
Montoro-Gámez C; Nolte H; Molinié T; Evangelista G; Tröder SE; Barth E; Popovic M; Trifunovic A; Zevnik B; Langer T; Rugarli EI
Brain; 2023 Oct; 146(10):4117-4131. PubMed ID: 37086482
[TBL] [Abstract][Full Text] [Related]
3. Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia.
Pirozzi M; Quattrini A; Andolfi G; Dina G; Malaguti MC; Auricchio A; Rugarli EI
J Clin Invest; 2006 Jan; 116(1):202-8. PubMed ID: 16357941
[TBL] [Abstract][Full Text] [Related]
4. Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.
Kasher PR; De Vos KJ; Wharton SB; Manser C; Bennett EJ; Bingley M; Wood JD; Milner R; McDermott CJ; Miller CC; Shaw PJ; Grierson AJ
J Neurochem; 2009 Jul; 110(1):34-44. PubMed ID: 19453301
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Loss of the Drosophila m-AAA mitochondrial protease paraplegin results in mitochondrial dysfunction, shortened lifespan, and neuronal and muscular degeneration.
Pareek G; Thomas RE; Pallanck LJ
Cell Death Dis; 2018 Feb; 9(3):304. PubMed ID: 29467464
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
Warnecke T; Duning T; Schwan A; Lohmann H; Epplen JT; Young P
Neurology; 2007 Jul; 69(4):368-75. PubMed ID: 17646629
[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. Axonal transport deficit in a KIF5A( -/- ) mouse model.
Karle KN; Möckel D; Reid E; Schöls L
Neurogenetics; 2012 May; 13(2):169-79. PubMed ID: 22466687
[TBL] [Abstract][Full Text] [Related]
14. Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia.
Edgar JM; McLaughlin M; Yool D; Zhang SC; Fowler JH; Montague P; Barrie JA; McCulloch MC; Duncan ID; Garbern J; Nave KA; Griffiths IR
J Cell Biol; 2004 Jul; 166(1):121-31. PubMed ID: 15226307
[TBL] [Abstract][Full Text] [Related]
15. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
Seo Y; Lim HT; Lee BJ; Han J
Am J Med Genet A; 2023 Feb; 191(2):582-585. PubMed ID: 36367250
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S; Depienne C; Gerber S; Challe G; Anheim M; Charles P; Fedirko E; Lejeune E; Cottineau J; Brusco A; Dollfus H; Chinnery PF; Mancini C; Ferrer X; Sole G; Destée A; Mayer JM; Fontaine B; de Seze J; Clanet M; Ollagnon E; Busson P; Cazeneuve C; Stevanin G; Kaplan J; Rozet JM; Brice A; Durr A
Brain; 2012 Oct; 135(Pt 10):2980-93. PubMed ID: 23065789
[TBL] [Abstract][Full Text] [Related]
18. Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia.
Denton KR; Lei L; Grenier J; Rodionov V; Blackstone C; Li XJ
Stem Cells; 2014 Feb; 32(2):414-23. PubMed ID: 24123785
[TBL] [Abstract][Full Text] [Related]
19. The mitochondrial protease AFG3L2 is essential for axonal development.
Maltecca F; Aghaie A; Schroeder DG; Cassina L; Taylor BA; Phillips SJ; Malaguti M; Previtali S; Guénet JL; Quattrini A; Cox GA; Casari G
J Neurosci; 2008 Mar; 28(11):2827-36. PubMed ID: 18337413
[TBL] [Abstract][Full Text] [Related]
20. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL; van der Heijden CD; de Bot ST; den Dunnen WF; van den Berg LH; Verschuuren-Bemelmans CC; Kremer HP; Veldink JH; Kamsteeg EJ; Scheffer H; van de Warrenburg BP
Brain; 2012 Oct; 135(Pt 10):2994-3004. PubMed ID: 22964162
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
