Pelizaeus-merzbacher-like disease caused by AIMP1/p43 homozygous mutation

American Journal of Human Genetics

Volumn 87, Issue 6, 2010, Pages 820-828

  Feinstein, Miora ^a   Markus, Barak ^a   Noyman, Iris ^a   Shalev, Hannah ^a   Flusser, Hagit ^a   Shelef, Ilan ^a   Liani Leibson, Keren ^a   Shorer, Zamir ^a   Cohen, Idan ^a   Khateeb, Shareef ^a   Sivan, Sara ^a   Birk, Ohad S ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

HEAT SHOCK PROTEIN; PROTEIN P43;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MALE; PELIZAEUS MERZBACHER DISEASE; PELIZAEUS MERZBACHER LIKE DISEASE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ANIMALS; CHILD, PRESCHOOL; CYTOKINES; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; INFANT; MALE; MICE; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; RNA-BINDING PROTEINS;

MUS;

EID: 78649766918     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.016     Document Type: Article

References (27)

1. M.S. van der Knaap, S.N. Breiter, S. Naidu, A.A. Hart, and J. Valk Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach Radiology 213 1999 121 133
2. D. Magen, C. Georgopoulos, P. Bross, D. Ang, Y. Segev, D. Goldsher, A. Nemirovski, E. Shahar, S. Ravid, and A. Luder Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy Am. J. Hum. Genet. 83 2008 30 42
3. B. Uhlenberg, M. Schuelke, F. Rüschendorf, N. Ruf, A.M. Kaindl, M. Henneke, H. Thiele, G. Stoltenburg-Didinger, F. Aksu, and H. Topalolu Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease Am. J. Hum. Genet. 75 2004 251 260
4. L. Salviati, E. Trevisson, M.C. Baldoin, I. Toldo, S. Sartori, M. Calderone, R. Tenconi, and A. Laverda A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease Neurogenetics 8 2007 57 60
5. R.Y. Birnbaum, A. Zvulunov, D. Hallel-Halevy, E. Cagnano, G. Finer, R. Ofir, D. Geiger, E. Silberstein, Y. Feferman, and O.S. Birk Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein Nat. Genet. 38 2006 749 751
6. S. Khateeb, H. Flusser, R. Ofir, I. Shelef, G. Narkis, G. Vardi, Z. Shorer, R. Levy, A. Galil, K. Elbedour, and O.S. Birk PLA2G6 mutation underlies infantile neuroaxonal dystrophy Am. J. Hum. Genet. 79 2006 942 948
7. M. Silberstein, A. Tzemach, N. Dovgolevsky, M. Fishelson, A. Schuster, and D. Geiger Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers Am. J. Hum. Genet. 78 2006 922 935
8. A. Gefen, R. Cohen, and O.S. Birk Syndrome to gene (S2G): In-silico identification of candidate genes for human diseases Hum. Mutat. 31 2010 229 236
9. G. Narkis, R. Ofir, E. Manor, D. Landau, K. Elbedour, and O.S. Birk Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway Am. J. Hum. Genet. 81 2007 589 595 (Pubitemid 47330217)
10. G. Narkis, R. Ofir, D. Landau, E. Manor, M. Volokita, R. Hershkowitz, K. Elbedour, and O.S. Birk Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway Am. J. Hum. Genet. 81 2007 530 539
11. D. Botstein, R.L. White, M. Skolnick, and R.W. Davis Construction of a genetic linkage map in man using restriction fragment length polymorphisms Am. J. Hum. Genet. 32 1980 314 331
12. G.M. Lathrop, and J.M. Lalouel Easy calculations of lod scores and genetic risks on small computers Am. J. Hum. Genet. 36 1984 460 465
13. J. Schultz, F. Milpetz, P. Bork, and C.P. Ponting SMART, a simple modular architecture research tool: Identification of signaling domains Proc. Natl. Acad. Sci. USA 95 1998 5857 5864
14. J.M. Han, S.G. Park, Y. Lee, and S. Kim Structural separation of different extracellular activities in aminoacyl-tRNA synthetase-interacting multi-functional protein, p43/AIMP1 Biochem. Biophys. Res. Commun. 342 2006 113 118
15. J. Kao, K. Houck, Y. Fan, I. Haehnel, S.K. Libutti, M.L. Kayton, T. Grikscheit, J. Chabot, R. Nowygrod, and S. Greenberg Characterization of a novel tumor-derived cytokine. Endothelial-monocyte activating polypeptide II J. Biol. Chem. 269 1994 25106 25119
16. G.M. Fabrizi, T. Cavallaro, C. Angiari, I. Cabrini, F. Taioli, G. Malerba, L. Bertolasi, and N. Rizzuto Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton Brain 130 2007 394 403
17. D.M. Georgiou, J. Zidar, M. Korosec, L.T. Middleton, T. Kyriakides, and K. Christodoulou A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family Neurogenetics 4 2002 93 96
18. I.V. Mersiyanova, A.V. Perepelov, A.V. Polyakov, V.F. Sitnikov, E.L. Dadali, R.B. Oparin, A.N. Petrin, and O.V. Evgrafov A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene Am. J. Hum. Genet. 67 2000 37 46
19. A. Abe, C. Numakura, K. Saito, H. Koide, N. Oka, A. Honma, Y. Kishikawa, and K. Hayasaka Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: Nonsense mutation probably causes a recessive phenotype J. Hum. Genet. 54 2009 94 97
20. X. Zhu, Y. Liu, Y. Yin, A. Shao, B. Zhang, S. Kim, and J. Zhou MSC p43 required for axonal development in motor neurons Proc. Natl. Acad. Sci. USA 106 2009 15944 15949
21. R.A. Nixon, and R.K. Sihag Neurofilament phosphorylation: A new look at regulation and function Trends Neurosci. 14 1991 501 506
22. A. Petzold Neurofilament phosphoforms: Surrogate markers for axonal injury, degeneration and loss J. Neurol. Sci. 233 2005 183 198
23. M.B. Omary, N.O. Ku, G.Z. Tao, D.M. Toivola, and J. Liao "Heads and tails" of intermediate filament phosphorylation: Multiple sites and functional insights Trends Biochem. Sci. 31 2006 383 394
24. S.W.K.G. Lee, and S. Kim Aminoacyl-tRNA synthetase-interacting multifunctional protein 1/p43: An emerging therapeutic protein working at systems level Expert Opin. Drug Discov. 3 2008 945 957
25. S.G. Park, P. Schimmel, and S. Kim Aminoacyl tRNA synthetases and their connections to disease Proc. Natl. Acad. Sci. USA 105 2008 11043 11049
26. B.S. Budde, Y. Namavar, P.G. Barth, B.T. Poll-The, G. Nürnberg, C. Becker, F. van Ruissen, M.A. Weterman, K. Fluiter, and E.T. te Beek tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia Nat. Genet. 40 2008 1113 1118
27. O. Agamy, B. Ben Zeev, D. Lev, B. Marcus, D. Fine, D. Su, G. Narkis, R. Ofir, C. Hoffmann, and E. Leshinsky-Silver Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy Am. J. Hum. Genet. 87 2010 538 544