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Literature for peptidase M41.006: paraplegin

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates

(Topics flags: M Mutation, R Splicing, I Inhibitor, K Knockout, V Review. To select only the references relevant to a single topic, click the link above. See explanation.)

    2021
  1. Bhattacharjee,S., Noushad,M. and Sadler,M.<br>Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation<br>Neurol India (2021) 69, 1051-1052. PubMed  Europe PubMed DOI
  2. Bogdanova-Mihaylova,P., Chen,H., Plapp,H.M., Gorman,C., Alexander,M.D., McHugh,J.C., Moran,S., Early,A., Cassidy,L., Lynch,T., Murphy,S.M. and Walsh,R.A.<br>Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort<br>J Neurol (2021) 268, 3897-3907. PubMed  Europe PubMed DOI
    3. 2020
  3. Mahoney,C.J., Dharamadasa,T., Huynh,W., Halpern,J.P., Vucic,S., Mowat,D. and Kiernan,M.C.<br>A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin<br>Muscle Nerve (2020) PubMed  Europe PubMed DOI  M
  4. Osmanovic,A., Widjaja,M., Forster,A., Weder,J., Wattjes,M.P., Lange,I., Sarikidi,A., Auber,B., Raab,P., Christians,A., Preller,M., Petri,S. and Weber,R.G.<br>SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia<br>J Neurol (2020) 267, 2732-2743. PubMed  Europe PubMed DOI  M
    5. 2019
  5. Coarelli,G., Schule,R., van de Warrenburg,B.P.C., De Jonghe,P., Ewenczyk,C., Martinuzzi,A., Synofzik,M., Hamer,E.G., Baets,J., Anheim,M., Schols,L., Deconinck,T., Masrori,P., Fontaine,B., Klockgether,T., D'Angelo,M.G., Monin,M.L., De Bleecker,J., Migeotte,I., Charles,P., Bassi,M.T., Klopstock,T., Mochel,F., Ollagnon-Roman,E., D'hooghe,M., Kamm,C., Kurzwelly,D., Papin,M., Davoine,C.S., Banneau,G., Tezenas du Montcel,S., Seilhean,D., Brice,A., Duyckaerts,C., Stevanin,G. and Durr,A.<br>Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7<br>Neurology (2019) 92, e2679-e2679. PubMed  Europe PubMed DOI  M
  6. Hurst,S., Baggett,A., Csordas,G. and Sheu,S.S.<br>SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca(2+) influx, and regulation of mitochondrial permeability transition pore opening<br>J Biol Chem (2019) 294, 10807-10818. PubMed  Europe PubMed DOI
  7. Liu,Y., Xu,J., Tao,W., Fu,C., Liu,J., Yu,R. and Zhang,X.<br>Exome sequencing identifies a mutation (Y740C) in spastic paraplegia 7 gene associated with adult-onset primary lateral sclerosis in a Chinese family<br>Eur Neurol (2019) 81, 87-93. PubMed  Europe PubMed DOI  M
  8. Richter,U., Ng,K.Y., Suomi,F., Marttinen,P., Turunen,T., Jackson,C., Suomalainen,A., Vihinen,H., Jokitalo,E., Nyman,T.A., Isokallio,M.A., Stewart,J.B., Mancini,C., Brusco,A., Seneca,S., Lombes,A., Taylor,R.W. and Battersby,B.J.<br>Mitochondrial stress response triggered by defects in protein synthesis quality control<br>Life Sci Alliance (2019) 2, e201800219-e201800219. PubMed  Europe PubMed DOI  PMC  EPMC
    9. 2018
  9. Pareek,G., Thomas,R.E. and Pallanck,L.J.<br>Loss of the Drosophila m-AAA mitochondrial protease paraplegin results in mitochondrial dysfunction, shortened lifespan, and neuronal and muscular degeneration<br>Cell Death Dis (2018) 9, 304-304. PubMed  Europe PubMed DOI  K
    10. 2017
  10. Tsai,C.W., Wu,Y., Pao,P.C., Phillips,C.B., Williams,C., Miller,C., Ranaghan,M. and Tsai,M.F.<br>Proteolytic control of the mitochondrial calcium uniporter complex<br>Proc Natl Acad Sci U S A (2017) 114, 4388-4393. PubMed  Europe PubMed DOI
  11. Zhang,L., McFarland,K.N., Subramony,S.H., Heilman,K.M. and Ashizawa,T.<br>SPG7 and impaired emotional communication<br>Cerebellum (2017) 16, 595-598. PubMed  Europe PubMed DOI  M
    12. 2016
  12. Chen,K.B., Chen,K.C., Chang,Y.L., Chang,K.L., Chang,P.C., Chang,T.T. and Chen,Y.C.<br>In silico investigation of traditional Chinese medicine for potential lead compounds as SPG7 inhibitors against coronary artery disease<br>Molecules (2016) 21 PubMed  Europe PubMed DOI  I
  13. Yang,Y., Zhang,L., Lynch,D.R., Lukas,T., Ahmeti,K., Sleiman,P.M., Ryan,E., Schadt,K.A., Newman,J.H., Deng,H.X., Siddique,N. and Siddique,T.<br>Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis<br>Neurol Genet (2016) 2, e60-e60. PubMed  Europe PubMed DOI  PMC  EPMC  M
    14. 2015
  14. Daoud,H., Papadima,E.M., Ouled Amar Bencheikh,B., Katsila,T., Dionne-Laporte,A., Spiegelman,D., Dion,P.A., Patrinos,G.P., Orru,S. and Rouleau,G.A.<br>Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia<br>Eur J Med Genet (2015) 58, 573-577. PubMed  Europe PubMed DOI  M
    15. 2013
  15. Roxburgh,R.H., Marquis-Nicholson,R., Ashton,F., George,A.M., Lea,R.A., Eccles,D., Mossman,S., Bird,T., van Gassen,K.L., Kamsteeg,E.J. and Love,D.R.<br>The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry<br>J Neurol (2013) 260, 1286-1294. PubMed  Europe PubMed DOI  M
    16. 2012
  16. Mancuso,G., Barth,E., Crivello,P. and Rugarli,E.I.<br>Alternative splicing of spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum<br>PLoS ONE (2012) 7, e36337-e36337. PubMed  Europe PubMed DOI  PMC  EPMC  R
  17. Pearce,D.A. and Padilla-Lopez,S.<br>Paraplegin<br>[ISSN:978-0-12-407744-7] (2012) 3, 706-709. DOI
    18. 2010
  18. Bonn,F., Pantakani,K., Shoukier,M., Langer,T. and Mannan,A.U.<br>Functional evaluation of paraplegin mutations by a yeast complementation assay<br>Hum Mutat (2010) 31, 617-621. PubMed  Europe PubMed DOI  M
  19. Maltecca,F. and Casari,G.<br>In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria<br>Methods Mol Biol (2010) 648, 257-267. PubMed  Europe PubMed DOI
    20. 2009
  20. Karlberg,T., van den Berg,S., Hammarstrom,M., Sagemark,J., Johansson,I., Holmberg-Schiavone,L. and Schuler,H.<br>Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7<br>PLoS ONE (2009) 4, e6975-e6975. PubMed  Europe PubMed DOI  PMC  EPMC
  21. Martinelli,P., La Mattina,V., Bernacchia,A., Magnoni,R., Cerri,F., Cox,G., Quattrini,A., Casari,G. and Rugarli,E.I.<br>Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration<br>Hum Mol Genet (2009) 18, 2001-2013. PubMed  Europe PubMed DOI  M
    22. 2008
  22. Arnoldi,A., Tonelli,A., Crippa,F., Villani,G., Pacelli,C., Sironi,M., Pozzoli,U., D'Angelo,M.G., Meola,G., Martinuzzi,A., Crimella,C., Redaelli,F., Panzeri,C., Renieri,A., Comi,G.P., Turconi,A.C., Bresolin,N. and Bassi,M.T.<br>A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia<br>Hum Mutat (2008) 29, 522-531. PubMed  Europe PubMed DOI  M
  23. Brugman,F., Scheffer,H., Wokke,J.H., Nillesen,W.M., de Visser,M., Aronica,E., Veldink,J.H. and van den Berg,L.H.<br>Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes<br>Neurology (2008) 71, 1500-1505. PubMed  Europe PubMed DOI  M
    24. 2007
  24. Koppen,M., Metodiev,M.D., Casari,G., Rugarli,E.I. and Langer,T.<br>Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia<br>Mol Cell Biol (2007) 27, 758-767. PubMed  Europe PubMed DOI  PMC  EPMC
    25. 2006
  25. [YEAR:14-3-2006]Elleuch,N., Depienne,C., Benomar,A., Hernandez,A.M., Ferrer,X., Fontaine,B., Grid,D., Tallaksen,C.M., Zemmouri,R., Stevanin,G., Durr,A. and Brice,A.<br>Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia<br>Neurology (14-3-2006) 66, 654-659. PubMed  Europe PubMed DOI  M
  26. [YEAR:15-12-2006]Pirozzi,M., Quattrini,A., Andolfi,G., Dina,G., Malaguti,M.C., Auricchio,A. and Rugarli,E.I.<br>Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia<br>J Clin Invest (15-12-2006) 116, 202-208. PubMed  Europe PubMed DOI  PMC  EPMC
  27. [YEAR:27-4-2006]Rugarli,E.I. and Langer,T.<br>Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia<br>Trends Mol Med (27-4-2006) 12, 262-269. PubMed  Europe PubMed DOI  V
    28. 2005
  28. [YEAR:21-10-2005]Claypool,S.M. and Koehler,C.M.<br>Hereditary spastic paraplegia: respiratory choke or unactivated substrate?<br>Cell (21-10-2005) 123, 183-185. PubMed  Europe PubMed DOI
  29. [YEAR:21-10-2005]Nolden,M., Ehses,S., Koppen,M., Bernacchia,A., Rugarli,E.I. and Langer,T.<br>The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria<br>Cell (21-10-2005) 123, 277-289. PubMed  Europe PubMed DOI
    30. 2004
  30. Ferreirinha,F., Quattrini,A., Pirozzi,M., Valsecchi,V., Dina,G., Broccoli,V., Auricchio,A., Piemonte,F., Tozzi,G., Gaeta,L., Casari,G., Ballabio,A. and Rugarli,E.I.<br>Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport<br>J Clin Invest (2004) 113, 231-242. PubMed  Europe PubMed DOI  PMC  EPMC  K
  31. Gelbard,H.A.<br>Synapses and Sisyphus: life without paraplegin<br>J Clin Invest (2004) 113, 185-187. PubMed  Europe PubMed DOI  PMC  EPMC  M
  32. Pearce,D.A.<br>Paraplegin<br>[ISSN:0-12-079610-4] (2004) 2, 802-804.  V
  33. Wilkinson,P.A., Crosby,A.H., Turner,C., Bradley,L.J., Ginsberg,L., Wood,N.W., Schapira,A.H. and Warner,T.T.<br>A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia<br>Brain (2004) 127, 973-980. PubMed  Europe PubMed DOI  M
    34. 2003
  34. [YEAR:24-11-2003]Atorino,L., Silvestri,L., Koppen,M., Cassina,L., Ballabio,A., Marconi,R., Langer,T. and Casari,G.<br>Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia<br>J Cell Biol (24-11-2003) 163, 777-787. PubMed  Europe PubMed DOI  PMC  EPMC
  35. [YEAR:3-3-2003]McDermott,C.J., Taylor,R.W., Hayes,C., Johnson,M., Bushby,K.M., Turnbull,D.M. and Shaw,P.J.<br>Investigation of mitochondrial function in hereditary spastic paraparesis<br>Neuroreport (3-3-2003) 14, 485-488. PubMed  Europe PubMed DOI  M
  36. Reid,E.<br>Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias<br>J Med Genet (2003) 40, 81-86. PubMed  Europe PubMed  PMC  EPMC  M
    37. 2001
  37. Casari,G. and Rugarli,E.<br>Molecular basis of inherited spastic paraplegias<br>Curr Opin Genet Dev (2001) 11, 336-342. PubMed  Europe PubMed DOI  M
  38. [YEAR:27-2-2001]McDermott,C.J., Dayaratne,R.K., Tomkins,J., Lusher,M.E., Lindsey,J.C., Johnson,M.A., Casari,G., Turnbull,D.M., Bushby,K. and Shaw,P.J.<br>Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England<br>Neurology (27-2-2001) 56, 467-471. PubMed  Europe PubMed  M
    39. 1999
  39. Pearce,D.A.<br>Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast<br>Hum Genet (1999) 104, 443-448. PubMed  Europe PubMed DOI
  40. Settasatian,C., Whitmore,S.A., Crawford,J., Bilton,R.L., Cleton-Jansen,A.M., Sutherland,G.R. and Callen,D.F.<br>Genomic structure and expression analysis of the spastic paraplegia gene, SPG7<br>Hum Genet (1999) 105, 139-144. PubMed  Europe PubMed DOI  M
    41. 1998
  41. [YEAR:12-6-1998]Casari,G., De Fusco,M., Ciarmatori,S., Zeviani,M., Mora,M., Fernandez,P., De Michele,G., Filla,A., Cocozza,S., Marconi,R., Durr,A., Fontaine,B. and Ballabio,A.<br>Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease<br>Cell (12-6-1998) 93, 973-983. PubMed  Europe PubMed DOI  M
    42. 1993
  42. [YEAR:15-3-1993]Gigli,G.L., Diomedi,M., Bernardi,G., Placidi,F., Marciani,M.G., Calia,E., Maschio,M.C. and Neri,G.<br>Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder<br>Am J Med Genet (15-3-1993) 45, 711-716. PubMed  Europe PubMed DOI  M

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