| 1 | SPG7
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| A Spanish family with a compound heterozygous mutation in SPG7: From uncertainty to clinical reality.
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| Fernández-Moreno MC, Castro-Fernández C, Viloria-Peñas MM, Castilla-Guerra L.
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| Neurologia eurologia. 2020 Mar 20. pii: S0213-4853(20)30002-5. doi: 10.1016/j.nrl.2020.01.002. [Epub ahead of print] English, Spanish. No a 2020
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| 2 | SPG7
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| Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study.
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| Lupo M, Olivito G, Clausi S, Siciliano L, Riso V, Bozzali M, Santorelli FM, Silvestri G, Leggio M.
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| Front Neurol 11:82. doi: 10.3389/fneur.2020.00082. eCollection 2020.
2020
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| 3 | SPG7
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| Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7.
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| Milenkovic I, Klotz S, Zulehner G, Sycha T, Wiest G.
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| Ann Clin Transl Neurol 6(10):2127-2132. doi: 10.1002/acn3.50907. Epub 2019 Oct 10.
2019
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| 4 | SPG7
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| Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
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| De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A.
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| Mov Disord 34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21.
2019
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| 5 | SPG7
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| SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca2+ influx, and regulation of mitochondrial permeability transition pore opening.
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| Hurst S, Baggett A, Csordas G, Sheu SS.
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| J Biol Chem 294(28):10807-10818. doi: 10.1074/jbc.RA118.006443. Epub 2019 May 16.
2019
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| 6 | SPG7
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| Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
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| Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A.
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| Neurology 92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.
2019
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| 7 | SPG7
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| Loss of the Drosophila m-AAA mitochondrial protease paraplegin results in mitochondrial dysfunction, shortened lifespan, and neuronal and muscular degeneration.
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| Pareek G, Thomas RE, Pallanck LJ.
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| Cell Death Dis 9(3):304. doi: 10.1038/s41419-018-0365-8.
2018
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| 8 | SPG7
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| SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
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| Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA; Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B.
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| Eur J Hum Genet 24(7):1016-21. doi: 10.1038/ejhg.2015.240. Epub 2015 Dec 2.
2016
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| 9 | PPIF, SPG7
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| SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore.
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| Shanmughapriya S, Rajan S, Hoffman NE, Higgins AM, Tomar D, Nemani N, Hines KJ, Smith DJ, Eguchi A, Vallem S, Shaikh F, Cheung M, Leonard NJ, Stolakis RS, Wolfers MP, Ibetti J, Chuprun JK, Jog NR, Houser SR, Koch WJ, Elrod JW, Madesh M.
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| Mol Cell 60(1):47-62. doi: 10.1016/j.molcel.2015.08.009. Epub 2015 Sep 17.
2015
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| 10 | SPG7
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| Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
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| Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M.
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| Int J Mol Sci 16(10):25050-66. doi: 10.3390/ijms161025050.
2015
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| 11 | AFG3L2, SPG7
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| SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes.
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| Almontashiri NA, Chen HH, Mailloux RJ, Tatsuta T, Teng AC, Mahmoud AB, Ho T, Stewart NA, Rippstein P, Harper ME, Roberts R, Willenborg C, Erdmann J; CARDIoGRAM Consortium, Pastore A, McBride HM, Langer T, Stewart AF.
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| Cell Rep 7(3):834-47. doi: 10.1016/j.celrep.2014.03.051. Epub 2014 Apr 24.
2014
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| 12 | SPG7
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| SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
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| Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V; Genetics of Spastic Paraplegia study group.
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| Clin Genet 83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21.
2013
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| 13 | SPG7
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| Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.
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| Mancuso G, Barth E, Crivello P, Rugarli EI.
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| PLoS One 7(5):e36337. doi: 10.1371/journal.pone.0036337. Epub 2012 May 1.
2012
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| 14 | AFG3L2, SPG7
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| Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.
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| Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, Quattrini A, Casari G, Rugarli EI.
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| Hum Mol Genet 18(11):2001-13. Epub 2009 Mar 16.
2009
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| 15 | SPG7
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| Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7.
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| Karlberg T, van den Berg S, Hammarström M, Sagemark J, Johansson I, Holmberg-Schiavone L, Schüler H.
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| PLoS One 4(10):e6975. doi: 10.1371/journal.pone.0006975.
2009
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| 16 | SPG7
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| A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
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| 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.
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| Hum Mutat 29(4):522-531 [Epub ahead of print] 2008
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| 17 | SPG7
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| Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
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| Brugman F, Scheffer H, Wokke JH, Nillesen WM, de Visser M, Aronica E, Veldink JH, van den Berg LH.
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| Neurology 71(19):1500-5. Epub 2008 Sep 17.
2008
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| 18 | SPG7
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| A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
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| Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.
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| Neurology 69(4):368-75. 2007
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| 19 | SPG7
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| Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
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| Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A.
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| Neurology 66(5):654-9. 2006
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| 20 | SPG7, SPG13, MRPL32, HSPD1
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| Hereditary spastic paraplegia: respiratory choke or unactivated substrate?
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| Claypool SM, Koehler CM.
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| Cell 123(2):183-5. 2005
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| 21 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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| 22 | SPG7
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| Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
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| McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby K, Shaw PJ.
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| Neurology 56(4):467-71. 2001
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| 23 | SPG7
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| Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.
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| Settasatian C, et al.
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| Hum Genet 105(1-2):139-44. 1999
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| 24 | ATN1, SPG7
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| Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
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| Casari G, et al.
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| Cell 93 : 973-983. 1998
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| 25 | RPL13, CDK10, SPG7, DPEP1, FANCA, MC1R, CHMP1A
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| Construction of a high-resolution physical and transcription map of chromosome 16q24.3 : a region of frequent loss of heterozygosity in sporadic breast cancer.
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| Whitmore SA, et al.
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| Genomics 50 : 1-8. 1998
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| 26 | SPG7
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| A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
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| De Michele G, et al.
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| Am J Hum Genet 63 : 135-139. 1998
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| 27 | SPG7
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| Genomic and cDNA sequence analysis of the cell matrix adhesion regulator gene.
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| Durbin H, et al.
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| Proc Natl Acad Sci U S A 94 : 14578-14583. 1997
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| 28 | SPG7
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| Detection of a 4-bp insertion (CACA) functional polymorphism at nucleotide 241 of the cellular adhesion regulatory molecule CMAR (formerly CAR).
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| Durbin H, et al.
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| Genomics 19 : 181-182. 1994
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| 29 | SPG7
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| The cell adhesion regulator (CAR) gene, TaqI and insertion/deletion polymorphisms, and regional assignment to the peritelomeric region of 16q by linkage analysis.
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| Koyama K, et al.
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| Genomics 16 : 264-265. 1993
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| 30 | SPG7
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| The murine vik gene (chromosome 9) encodes a putative receptor with unique protein kinase motifs.
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| Kelman Z, et al.
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| Oncogene 8 : 37-44. 1993
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| 31 | SPG7
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| Cloning and characterization of a gene that regulates cell adhesion.
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| Pullman WE, et al.
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| Nature 356 : 529-532. 1992
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