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The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.
Bross P, Naundrup S, Hansen J, Nielsen MN, Christensen JH, Kruhøffer M, Palmfeldt J, Corydon TJ, Gregersen N, Ang D, Georgopoulos C, Nielsen KL. Bross P, et al. Among authors: ang d. J Biol Chem. 2008 Jun 6;283(23):15694-700. doi: 10.1074/jbc.M800548200. Epub 2008 Apr 8. J Biol Chem. 2008. PMID: 18400758 Free PMC article.
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
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, Mandel H. Magen D, et al. Among authors: ang d. Am J Hum Genet. 2008 Jul;83(1):30-42. doi: 10.1016/j.ajhg.2008.05.016. Epub 2008 Jun 19. Am J Hum Genet. 2008. PMID: 18571143 Free PMC article.
A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.
Cömert C, Brick L, Ang D, Palmfeldt J, Meaney BF, Kozenko M, Georgopoulos C, Fernandez-Guerra P, Bross P. Cömert C, et al. Among authors: ang d. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a004879. doi: 10.1101/mcs.a004879. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532876 Free PMC article. Review.
The Escherichia coli groE chaperonins.
Georgopoulos C, Ang D. Georgopoulos C, et al. Among authors: ang d. Semin Cell Biol. 1990 Feb;1(1):19-25. Semin Cell Biol. 1990. PMID: 1983267 Review.
376 results