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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.
    Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation
    Neurol India69, 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.
    Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort
    J Neurol268, 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.
    A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin
    Muscle Nerve 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.
    SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia
    J Neurol267, 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.
    Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
    Neurology92, e2679-e2679. PubMed  Europe PubMed DOI  M
  6. Hurst,S., Baggett,A., Csordas,G. and Sheu,S.S.
    SPG7 targets the m-AAA protease complex to process MCU for uniporter assembly, Ca(2+) influx, and regulation of mitochondrial permeability transition pore opening
    J Biol Chem294, 10807-10818. PubMed  Europe PubMed DOI
  7. Liu,Y., Xu,J., Tao,W., Fu,C., Liu,J., Yu,R. and Zhang,X.
    Exome sequencing identifies a mutation (Y740C) in spastic paraplegia 7 gene associated with adult-onset primary lateral sclerosis in a Chinese family
    Eur Neurol81, 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.
    Mitochondrial stress response triggered by defects in protein synthesis quality control
    Life Sci Alliance2, e201800219-e201800219. PubMed  Europe PubMed DOI
    9. 2018
  9. Pareek,G., Thomas,R.E. and Pallanck,L.J.
    Loss of the Drosophila m-AAA mitochondrial protease paraplegin results in mitochondrial dysfunction, shortened lifespan, and neuronal and muscular degeneration
    Cell Death Dis9, 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.
    Proteolytic control of the mitochondrial calcium uniporter complex
    Proc Natl Acad Sci U S A114, 4388-4393. PubMed  Europe PubMed DOI
  11. Zhang,L., McFarland,K.N., Subramony,S.H., Heilman,K.M. and Ashizawa,T.
    SPG7 and impaired emotional communication
    Cerebellum16, 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.
    In silico investigation of traditional Chinese medicine for potential lead compounds as SPG7 inhibitors against coronary artery disease
    Molecules21, 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.
    Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis
    Neurol Genet2, e60-e60. PubMed  Europe PubMed DOI  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.
    Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia
    Eur J Med Genet58, 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.
    The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry
    J Neurol260, 1286-1294. PubMed  Europe PubMed DOI  M
    16. 2012
  16. Mancuso,G., Barth,E., Crivello,P. and Rugarli,E.I.
    Alternative splicing of spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum
    PLoS ONE7, e36337-e36337. PubMed  Europe PubMed DOI  R
  17. Pearce,D.A. and Padilla-Lopez,S.
    Paraplegin
    [ISSN:978-0-12-407744-7]3, 706-709. DOI
    18. 2010
  18. Bonn,F., Pantakani,K., Shoukier,M., Langer,T. and Mannan,A.U.
    Functional evaluation of paraplegin mutations by a yeast complementation assay
    Hum Mutat31, 617-621. PubMed  Europe PubMed DOI  M
  19. Maltecca,F. and Casari,G.
    In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria
    Methods Mol Biol648, 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.
    Crystal structure of the ATPase domain of the human AAA+ protein paraplegin/SPG7
    PLoS ONE4, e6975-e6975. PubMed  Europe PubMed DOI
  21. Martinelli,P., La Mattina,V., Bernacchia,A., Magnoni,R., Cerri,F., Cox,G., Quattrini,A., Casari,G. and Rugarli,E.I.
    Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration
    Hum Mol Genet18, 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.
    A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia
    Hum Mutat29, 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.
    Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes
    Neurology71, 1500-1505. PubMed  Europe PubMed DOI  M
    24. 2007
  24. Koppen,M., Metodiev,M.D., Casari,G., Rugarli,E.I. and Langer,T.
    Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia
    Mol Cell Biol27, 758-767. PubMed  Europe PubMed DOI
    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.
    Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
    Neurology66, 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.
    Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia
    J Clin Invest116, 202-208. PubMed  Europe PubMed DOI
  27. [YEAR:27-4-2006]Rugarli,E.I. and Langer,T.
    Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia
    Trends Mol Med12, 262-269. PubMed  Europe PubMed DOI  V
    28. 2005
  28. [YEAR:21-10-2005]Claypool,S.M. and Koehler,C.M.
    Hereditary spastic paraplegia: respiratory choke or unactivated substrate?
    Cell123, 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.
    The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria
    Cell123, 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.
    Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
    J Clin Invest113, 231-242. PubMed  Europe PubMed DOI  K
  31. Gelbard,H.A.
    Synapses and Sisyphus: life without paraplegin
    J Clin Invest113, 185-187. PubMed  Europe PubMed DOI  M
  32. Pearce,D.A.
    Paraplegin
    [ISSN:0-12-079610-4]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.
    A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia
    Brain127, 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.
    Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
    J Cell Biol163, 777-787. PubMed  Europe PubMed DOI
  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.
    Investigation of mitochondrial function in hereditary spastic paraparesis
    Neuroreport14, 485-488. PubMed  Europe PubMed DOI  M
  36. Reid,E.
    Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias
    J Med Genet40, 81-86. PubMed  Europe PubMed  M
    37. 2001
  37. Casari,G. and Rugarli,E.
    Molecular basis of inherited spastic paraplegias
    Curr Opin Genet Dev11, 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.
    Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
    Neurology56, 467-471. PubMed  Europe PubMed  M
    39. 1999
  39. Pearce,D.A.
    Hereditary spastic paraplegia: mitochondrial metalloproteases of yeast
    Hum Genet104, 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.
    Genomic structure and expression analysis of the spastic paraplegia gene, SPG7
    Hum Genet105, 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.
    Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    Cell93, 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.
    Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder
    Am J Med Genet45, 711-716. PubMed  Europe PubMed DOI  M

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