Relevant publications of consortium members

2008

Merkwirth,C.,, and Langer,T. (2008). Prohibitin function within mitochondria: Essential roles for cell proliferation and cristae morphogenesis. Biochim.Biophys.Acta (in press) PUBMED

Mancuso,G. and Rugarli,E.I. (2008). A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform. BMC. Biol. 6, 31. PUBMED

Magen,D., Georgopoulos,C., Bross,P., Ang,D., Segev,Y., Goldsher,D., Nemirovski,A., Shahar,E., Ravid,S., Luder,A., Heno,B., Gershoni-Baruch,R., Skorecki,K., and Mandel,H. (2008). Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am. J. Hum. Genet. 83, 30-42. PUBMED

Beetz,C., Schule,R., Klebe,S., Klimpe,S., Klopstock,T., Lacour,A., Otto,S., Sperfeld,A.D., van de,W.B., Schols,L., and Deufel,T. (2008). Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J. Neurol. Sci. 268, 131-135. PUBMED

Bross,P., Naundrup,S., Hansen,J., Nielsen,M.N., Christensen,J.H., Kruhoffer,M., Palmfeldt,J., Corydon,T.J., Gregersen,N., Ang,D., Georgopoulos,C., and Nielsen,K.L. (2008). The HSP60-(P.val98ile) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. J. Biol. Chem. 283, 15694-15700. PUBMED

Dick,K.J., Al-Mjeni,R., Baskir,W., Koul,R., Simpson,M.A., Patton,M.A., Raeburn,S., and Crosby,A.H. (2008). A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology 71, 248-252. PUBMED

Beetz,C., Schule,R., Deconinck,T., Tran-Viet,K.N., Zhu,H., Kremer,B.P., Frints,S.G., van Zelst-Stams,W.A., Byrne,P., Otto,S., Nygren,A.O., Baets,J., Smets,K., Ceulemans,B., Dan,B., Nagan,N., Kassubek,J., Klimpe,S., Klopstock,T., Stolze,H., Smeets,H.J., Schrander-Stumpel,C.T., Hutchinson,M., van de Warrenburg,B.P., Braastad,C., Deufel,T., Pericak-Vance,M., Schols,L., De,J.P., and Zuchner,S. (2008). REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 131 , 1078-1086. PUBMED

Hansen,J., Corydon,T.J., Palmfeldt,J., Durr,A., Fontaine,B., Nielsen,M.N., Christensen,J.H., Gregersen,N., and Bross,P. (2008). Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). Neuroscience 153, 474-482. PUBMED

Maltecca,F., Aghaie,A., Schroeder,D.G., Cassina,L., Taylor,B.A., Phillips,S.J., Malaguti,M., Previtali,S., Guenet,J.L., Quattrini,A., Cox,G.A., and Casari,G. (2008). The mitochondrial protease AFG3L2 is essential for axonal development. J. Neurosci. 28, 2827-2836. PUBMED

Merkwirth,C., Dargazanli,S., Tatsuta,T., Geimer,S., Lower,B., Wunderlich,F.T., von Kleist-Retzow,J.C., Waisman,A., Westermann,B., and Langer,T. (2008). Prohibitins control cell proliferation and apoptosis by regulating OPA1-dependent cristae morphogenesis in mitochondria. Genes Dev. 22, 476-488. PUBMED

Tatsuta,T. and Langer,T. (2008). Quality control of mitochondria: protection against neurodegeneration and ageing. EMBO J.  27, 306-314. PUBMED

Tsaousidou,M.K., Ouahchi,K., Warner,T.T., Yang,Y., Simpson,M.A., Laing,N.G., Wilkinson,P.A., Madrid,R.E., Patel,H., Hentati,F., Patton,M.A., Hentati,A., Lamont,P.J., Siddique,T., and Crosby,A.H. (2008). Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am. J. Hum. Genet. 82, 510-515. PUBMED

2007

Duvezin-Caubet,S., Koppen,M., Wagener,J., Zick,M., Israel,L., Bernacchia,A., Jagasia,R., Rugarli,E.I., Imhof,A., Neupert,W., Langer,T., and Reichert,A.S. (2007). OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria. Mol. Biol. Cell 18, 3582-3590. PUBMED

Graef,M., Seewald,G., and Langer,T. (2007). Substrate recognition by AAA+ ATPases: Distinct substrate binding modes in the ATP-dependent protease Yme1 of the mitochondrial intermembrane space. Mol. Cell Biol. 27, 2476-2485. PUBMED

Hansen,J., Svenstrup,K., Ang,D., Nielsen,M.N., Christensen,J.H., Gregersen,N., Nielsen,J.E., Georgopoulos,C., and Bross,P. (2007). A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. J. Neurol. 254, 897-900. PUBMED

Koppen,M. and Langer,T. (2007). Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases. Crit Rev Biochem. Mol. Biol. 42, 221-242. PUBMED

Mitne-Neto,M., Kok,F., Beetz,C., Pessoa,A., Bueno,C., Graciani,Z., Martyn,M., Monteiro,C.B., Mitne,G., Hubert,P., Nygren,A.O., Valadares,M., Cerqueira,A.M., Starling,A., Deufel,T., and Zatz,M. (2007). A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. Eur. J. Hum. Genet 15, 1276-1279. PUBMED

Schickel,J., Pamminger,T., Ehrsam,A., Munch,S., Huang,X., Klopstock,T., Kurlemann,G., Hemmerich,P., Dubiel,W., Deufel,T., and Beetz,C. (2007). Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia. Eur. J. Neurol. 14, 1322-1328. PUBMED

Bross, P, Li, Z, Hansen, J, Hansen, JJ, Nielsen, MN, Corydon, TJ, Georgopoulos, C, Ang, D, Lundemose, JB, Niezen-Koning, K, Eiberg, H, Yang, H, Kolvraa, S, Bolund, L, and Gregersen, N (2007). Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. J.Hum.Genet. 52,56-65 PUBMED

2006

Koppen, M, Metodiev, MD, Casari, G, Rugarli, EI and Langer, T (2006). Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol.Cell Biol. 27, 758-767PUBMED

Gregersen, N, Bross, P, Vang, S, and Christensen, JH (2006). Protein Misfolding and Human Disease. Ann. Rev. Gen. Hum. Genet. 7,103-124 PUBMED

Beetz, C, Nygren, AO, Schickel, J, Auer-Grumbach, M, Burk, K, Heide, G, Kassubek, J, Klimpe, S, Klopstock, T, Kreuz, F, Otto, S, Schule, R, Schols, L, Sperfeld, AD, Witte, OW, and Deufel, T (2006) High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology, 67: 1926-30 PUBMED

Robay, D, Patel ,H, Simpson, MA, Brown, NA, and Crosby, AH (2006) Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. Exp. Cell Res. 312, 2764-77 PUBMED

Rugarli, EI and Langer, T (2006) Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol. Med. 12, 262-269 PUBMED

Schickel, J, Beetz, C, Frommel, C, Heide, G, Sasse, A, Hemmerich, P, and Deufel, T (2006) Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin). Neurology 66, 421-423. PUBMED

Arnold, I, Wagner-Ecker, M, Ansorge, W, and Langer, T. (2006) Evidence for a novel mitochondria-to-nucleus signalling pathway in respiring cells lacking i-AAA protease and the ABC-transporter Mdl1. Gene. PUBMED

2005

Wilkinson, PA, Crosby, AH, Turner, C, Bradley, LJ, Ginsberg, L, Wood, NW, Schapira, AH, and Warner, TT (2004). A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. PUBMED

Pirozzi M, Quattrini A, Andolfi G, Dina G, Malaguti MC, Auricchio A, and Rugarli EI. (2005) Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. J.Clin.Invest. PUBMED

Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, and Langer T (2005) The m-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in Mitochondria. Cell 123:277-289. PUBMED

Gregersen N, Bolund L, and Bross P (2005) Protein misfolding, aggregation, and degradation in disease. Mol Biotechnol 31:141-150. PUBMED

Maggi R, Cariboni A, Zaninetti R, Samara A, Stossi F, Pimpinelli F, Giacobini P, Consalez GG, Rugarli E, and Piva F (2005) Factors involved in the migration of neuroendocrine hypothalamic neurons. Arch Ital Biol 143:171-178. PUBMED

Corydon TJ, Hansen J, Bross P, and Jensen TG (2005) Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins. Mol Genet Metab 85:260-270. PUBMED

Hansen J, Gregersen N, and Bross P (2005) Differential degradation of variant medium-chain acyl-CoA dehydrogenase by the protein quality control proteases Lon and ClpXP. Biochem Biophys Res Commun 333:1160-1170. PUBMED

Claudiani P, Riano E, Errico A, Andolfi G, and Rugarli EI (2005) Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus. Exp Cell Res. PUBMED

DiSchiavi E, Riano E, Heye B, Bazzicalupo P, and Rugarli EI (2005) UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons. Eur J Neurosci 21:3291-3300. PUBMED

Kambacheld M, Augustin S, Tatsuta T, Muller S, and Langer T (2005) Role of the novel metallopeptidase Mop112 and saccharolysin for the complete degradation of proteins residing in different subcompartments of mitochondria. J Biol Chem 280:20132-20139. PUBMED

Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, and Warner TT (2005) A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 6:79-84. PUBMED

Tatsuta T, Model K, and Langer T (2005) Formation of membrane-bound ring complexes by prohibitins in mitochondria. Mol Biol Cell 16:248-259. PUBMED

Augustin S, Nolden M, Muller S, Hardt O, Arnold I, and Langer T (2005) Characterization of peptides released from mitochondria: evidence for constant proteolysis and peptide efflux. J Biol Chem 280:2691-2699. PUBMED


2004

Beetz C, Brodhun M, Moutzouris K, Kiehntopf M, Berndt A, Lehnert D, Deufel T, Bastmeyer M, and Schickel J (2004) Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system. Biochem Biophys Res Commun 318:1079-1084. PUBMED

Bross, P., Rugarli, E. I., Casari, G., and Langer, T. Protein quality control in mitochondria and neurodegeneration in hereditary spastic paraplegia. Koehler, C. and Bauer, M.  97-121. 2004. Heidelberg, Springer-Verlag. Topics in Current Genetics. Koehler, C. and Bauer, M. F.

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 EI (2004) Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113:231-242.

Korbel D, Wurth S, Kaser M, and Langer T (2004) Membrane protein turnover by the m-AAA protease in mitochondria depends on the transmembrane domains of its subunits. EMBO Rep.

Orlacchio A, Kawarai T, Totaro A, Errico A, St George-Hyslop PH, Rugarli EI, and Bernardi G (2004) Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 61:849-855.

Proukakis C, Cross H, Patel H, Patton MA, Valentine A, and Crosby AH (2004) Troyer syndrome revisitedA clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol 251:1105-1110.

Warner TT, Patel H, Proukakis C, Reed JA, McKie L, Wills A, Patton MA, and Crosby AH (2004) A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J Neurol 251:1068-1074.

Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, Wood NW, Schapira AH, and Warner TT (2004) A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain.

Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den BP, Verellen C, Van ML, Merlini L, De JP, Timmerman V, Crosby AH, and Wagner K (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 36:271-276.


2003

Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, and Casari G (2003) Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163:777-787.

Bross P, Winter V, Pedersen CB, Gregersen N (2003) Investigation of folding and degradation of in vitro synthesized mutant proteins in mitochondria. In Bross P, Gregersen N (eds) Protein Misfolding and Disease - Principles and Protocols, 232 ed. Totowa, New Jersey: Humana Press.

Bross P, Gregersen N (2003) Basic introduction to in vivo protein folding and its defects. In Bross P, Gregersen N (eds) Protein Misfolding and Disease - Principles and Protocols, 232 ed. Totowa, New Jersey: Humana Press.

Bross P, Andresen BS, Corydon TJ, Gregersen N (2003) Protein Misfolding and Degradation in Genetic Diseases. In Cooper DN et al (eds) Nature Encyclopedia of the Human Genome.Nature Publishing Group.

Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, and Crosby AH (2003) The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics 81:437-441.

Crosby AH (2003) Disruption of cellular transport: a common cause of neurodegeneration? Lancet Neurol 2:311-316.

Gregersen N, Bolund L, Bross P (2003) Protein misfolding, aggregation, and degradation in disease. In Bross P, Gregersen N (eds) Protein Misfolding and Disease - Principles and Protocols, 232 ed. Totowa, New Jersey: Humana Press.

Hansen JJ, Bross P, Westergaard M, Nielsen MN, Eiberg H, Børglum AD, Mogensen J, Kristiansen K, Bolund L, and Gregersen N (2003) The Genomic Structure of the Human Mitochondrial Chaperonin Genes: HSP60 and HSP10 are Localised Head to Head on Chromosome 2 Separated by a Bidirectional Promoter. Hum Genet 112:71-77.

Kaser M, Kambacheld M, Kisters-Woike B, and Langer T (2003) Oma1, a novel membrane-bound metallopeptidase in mitochondria with activities overlapping with the m-AAA protease. J Biol Chem 278:46414-46423.

Pedersen CB, Bross P, Winter VS, Corydon TJ, Bolund L, Bartlett K, Vockley J, and Gregersen N (2003) Misfolding, Degradation, and Aggregation of Variant Proteins: THE MOLECULAR PATHOGENESIS OF SHORT CHAIN ACYL-CoA DEHYDROGENASE (SCAD) DEFICIENCY. J Biol Chem 278:47449-47458.

Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, and Crosby AH (2003) Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat 21:170.

Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, and Crosby AH (2003) Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia. Am J Hum Genet 73.

Wilkinson PA, Hart PE, Patel H, Warner TT, and Crosby AH (2003) SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J Neurol Sci 216:43-45.

Wilkinson PA, Crosby AH, Turner C, Patel H, Wood NW, Schapira AH, and Warner TT (2003) A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. Neurology 61:235-238.


2002

Arnold I and Langer T (2002) Membrane protein degradation by AAA proteases in mitochondria. Biochim Biophys Acta 1592:89.

Crosby AH and Proukakis C (2002) Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia? Am J Hum Genet 71:1009-1016.

Errico A, Ballabio A, and Rugarli EI (2002) Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 11:153-163.

Hansen JJ, Dürr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, and Bross P (2002) Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60. Am J Hum Genet 70:1328-1332.

Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Casari G, Ardito B, Lastilla M, Gambardella A, and Quattrone A (2002) A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. J Neurol 249:1413-1416.

Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, and Crosby AH (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet.

Proukakis C, Hart P, Cornish A, Warner T, and Crosby A (2002) Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. J Neurol Sci 201:65.

Sauter S, Miterski B, Klimpe S, Bonsch D, Schols L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, and Neesen J (2002) Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 20:127-132.


2001

Casari G and Rugarli E (2001) Molecular basis of inherited spastic paraplegias. Curr Opin Genet Dev 11:336-342.

Klanner C, Prokisch H, and Langer T (2001) MAP-1 and IAP-1, Two Novel AAA Proteases with Catalytic Sites on Opposite Membrane Surfaces in Mitochondrial Inner Membrane of Neurospora crassa. Mol Biol Cell 12:2858-2869.

Langer T, Kaser M, Klanner C, and Leonhard K (2001) AAA proteases of mitochondria: quality control of membrane proteins and regulatory functions during mitochondrial biogenesis. Biochem Soc Trans 29:431-436.

McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby K, and Shaw PJ (2001) Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology 56:467-471.

Patel H, Hart PE, Warner T, Allen I, Phillimore HE, Silver JR, Wood NW, Jeffery S, Patton MA, and Crosby AH (2001) Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. Am J Med Genet 102:68-72.


2000

Coppola M, Pizzigoni A, Banfi S, Bassi MT, Casari G, and Incerti B (2000) Identification and characterization of YME1L1, a novel paraplegin-related gene. Genomics 66:48-54.

Corydon TJ, Wilsbech M, Jespersgaard C, Andresen BS, Børglum AD, Pedersen S, Bolund L, Gregersen N, and Bross P (2000) Human and mouse mitochondrial orthologs of bacterial ClpX. Mamm Genome 11:899-905.

Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Boentsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Durr A, and Hazan J (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9:637-644.

Klanner C, Neupert W, and Langer T (2000) The chaperonin-related protein Tcm62p ensures mitochondrial gene expression under heat stress. FEBS Lett 470:365-369.

Käser M and Langer T (2000) Protein degradation in mitochondria. Semin Cell Dev Biol 11:181-190.

Langer T (2000) AAA proteases: cellular machines for degrading membrane proteins. Trends Biochem Sci 25:247-251.

Leonhard K, Guiard B, Pellecchia G, Tzagoloff A, Neupert W, and Langer T (2000) Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface. Mol Cell 5:629-638.


1999

Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, and Franco B (1999) Identification and characterization of AFG3L2, a novel paraplegin- related gene. Genomics 59:51-58.

Bross P, Corydon TJ, Andresen BS, Jørgensen MM, Bolund L, and Gregersen N (1999) Protein misfolding and degradation in genetic diseases. Hum Mutat 14:186-198.

Leonhard K, Stiegler A, Neupert W, and Langer T (1999) Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease. Nature 398:348-351.

Steglich G, Neupert W, and Langer T (1999) Prohibitins regulate membrane protein degradation by the m-AAA protease in mitochondria. Mol Cell Biol 19:3435-3442.


1998

Arlt H, Steglich G, Perryman R, Guiard B, Neupert W, and Langer T (1998) The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease. EMBO J 17:4837-4847.

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 (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983.

Corydon TJ, Bross P, Holst HU, Neve S, Kristiansen K, Gregersen N, and Bolund L (1998) A human homologue of Escherichia coli ClpP caseinolytic protease: recombinant expression, intracellular processing, and subcellular localisation. Biochem J 331:309-316.

De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, and Cocozza S (1998) A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 63:135-139.

Savel'ev AS, Novikova LA, Kovaleva IE , Luzikov VN, Neupert W, and Langer T (1998) ATP-dependent Proteolysis in Mitochondria. M-aaa protease and pim1 protease exert overlapping substrate specificities and cooperate with the mthsp70 system. J Biol Chem 273:20596-20602.

Van Dyck L, Dembowski M, Neupert W, and Langer T (1998) Mcx1p, a ClpX homologue in mitochondria of Saccharomyces cerevisiae. FEBS Lett 438:250-254.

Van Dyck L, Neupert W, and Langer T (1998) The ATP-dependent PIM1 protease is required for the expression of intron-containing genes in mitochondria. Genes Dev 12:1515-1524.