Erratum: Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy (Brain (2010) 133 (2123-2135) DOI: 10.1093/brain/awq108);Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy

Brain

Volumn 133, Issue 7, 2010, Pages 2123-2135

  Cirak, Sebahattin ^a   Von Deimling, Florian ^b   Sachdev, Shrikesh ^c   Errington, Wesley J ^d,e   Herrmann, Ralf ^f   Bönnemann, Carsten ^g   Brockmann, Knut ^h   Hinderlich, Stephan ⁱ   Lindner, Tom H ^j   Steinbrecher, Alice ^k   Hoffmann, Katrin ^l,m   Privé, Gilbert G ^d,e   Hannink, Mark ^c   Nürnberg, Peter ⁿ   Voit, Thomas ^k  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Sozialpaediatrisches Zentrum Coburg   (Germany)

^c University of Missouri   (United States)

^d UNIVERSITY OF TORONTO   (Canada)

^e PRINCESS MARGARET HOSPITAL   (Canada)

^f UNIVERSITY HOSPITAL ESSEN   (Germany)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h UNIVERSITY OF GÖTTINGEN   (Germany)

ⁱ FB VI Bioinformatics   (Germany)

^j UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^k SORBONNE UNIVERSITÉ   (France)

^l CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^m MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

ⁿ UNIVERSITY OF COLOGNE   (Germany)

more..

Author keywords

bric a brac BACK kelch protein; Cullin 3; distal myopathy; early onset; ubiquitin ligase

Indexed keywords

CREATINE KINASE; CULLIN; KELCH LIKE ECH ASSOCIATED PROTEIN 1; UBIQUITIN PROTEIN LIGASE E3;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DISEASE COURSE; DISTAL MYOPATHY; GENE MUTATION; GENOMICS; HUMAN; IMMUNOHISTOCHEMISTRY; LINKAGE ANALYSIS; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NERVE CONDUCTION; NEUROPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SCHOOL CHILD; TIBIALIS ANTERIOR MUSCLE;

EID: 77954359968     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awaa065     Document Type: Erratum

References (52)

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. GRR: graphical representation of relationship errors. Bioinformatics 2001; 17: 742-743
2. Ahlberg G, von Tell D, Borg K, Edstrom L, Anvret M. Genetic linkage of Welander distal myopathy to chromosome 2p13. Ann Neurol 1999; 46: 399-404.
3. Ahmad KF, Engel CK, Prive GG. Crystal structure of the BTB domain from PLZF. Proc Natl Acad Sci USA 1998; 95: 12123-12128
4. Aoki M, Arahata K, Brown RH Jr. [Positional cloning of the gene for Miyoshi myopathy and limb-girdle muscular dystrophy]. Rinsho Shinkeigaku 1999; 39: 1272-1275
5. Bautista J, Rafel E, Castilla JM, Alberca R. Hereditary distal myopathy with onset in early infancy. Observation of a family. J Neurol Sci 1978; 37: 149-158
6. Benatar M, Wuu J, Peng L. Reference data for commonly used sensory and motor nerve conduction studies. Muscle Nerve 2009; 40: 772-794
7. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 2000; 26: 370-374
8. Cai F, Zhang J. Study of nerve conduction and late responses in normal Chinese infants, children, and adults. J Child Neurol 1997; 12: 13-18
9. Cottingham RW Jr, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993; 53: 252-263
10. DeLano WL, editor. The PyMOL molecular graphics system, 2003. DeLano Scientific, San Carlos, California, USA.
11. Di Blasi C, Moghadaszadeh B, Ciano C, Negri T, Giavazzi A, Cornelio F, et al. Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy. Ann Neurol 2004; 56: 133-138
12. Ding J, Allen E, Wang W, Valle A, Wu C, Nardine T, et al. Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport. Hum Mol Genet 2006; 15: 1451-1463
13. Du M, Sansores-Garcia L, Zu Z, Wu KK. Cloning and expression analysis of a novel salicylate suppressible gene, Hs-CUL-3, a member of cullin/Cdc53 family. J Biol Chem 1998; 273: 24289-24292
14. Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopa-thy. Nat Genet 2001; 29: 83-87
15. Furukawa M, He YJ, Borchers C, Xiong Y. Targeting of protein ubiqui-tination by BTB-Cullin 3-Roc1 ubiquitin ligases. Nat Cell Biol 2003; 5: 1001-1007
16. Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007; 130: 1477-1484
17. Grimsby S, Jaensson H, Dubrovska A, Lomnytska M, Hellman U, Souchelnytskyi S. Proteomics-based identification of proteins interacting with Smad3: SREBP-2 forms a complex with Smad3 and inhibits its transcriptional activity. FEBS Lett 2004; 577: 93-100.
18. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002; 71: 492-500.
19. Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, et al. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 1998; 62: 620-626 (Pubitemid 28164619)
20. Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, et al. Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). Neuromuscul Disord 2004; 14: 183-187
21. Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001; 56: 869-877
22. Herrmann R, Straub V, Blank M, Kutzick C, Franke N, Jacob EN, et al. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet 2000; 9: 2335-2340
23. Hoffmann K, Mattheisen M, Dahm S, Nurnberg P, Roe C, Johnson J, et al. A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. Diabetologia 2007; 50: 1418-1422
24. Jackman RW, Kandarian SC. The molecular basis of skeletal muscle atrophy. Am J Physiol Cell Physiol 2004; 287: C834-43.
25. Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, et al. Nonaka myopathy is caused by mutations in the UDP-N-acet-ylglucosamine-2- epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 2002; 47: 77-79
26. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and non-parametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363
27. Kudryashova E, Kudryashov D, Kramerova I, Spencer MJ. Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin. J Mol Biol 2005; 354: 413-424
28. Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 1995; 56: 422-427
29. Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry 2006; 77: 208-215
30. Liu D, Black BL, Derynck R. TGF-beta inhibits muscle differentiation through functional repression of myogenic transcription factors by Smad3. Genes Dev 2001; 15: 2950-2966
31. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31-36
32. Mastaglia FL, Phillips BA, Cala LA, Meredith C, Egli S, Akkari PA, et al. Early onset chromosome 14-linked distal myopathy (Laing). Neuromuscul Disord 2002; 12: 350-357
33. Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet 2004; 75: 703-708
34. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998; 63: 259-266
35. Robinson DN, Cooley L. Drosophila kelch is an oligomeric ring canal actin organizer. J Cell Biol 1997; 138: 799-810.
36. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 2000; 132: 365-386
37. Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, et al. Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet 2009; 84: 511-518
38. Servidei S, Capon F, Spinazzola A, Mirabella M, Semprini S, de Rosa G, et al. A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. Neurology 1999; 53: 830-837
39. Sihag RK, Inagaki M, Yamaguchi T, Shea TB, Pant HC. Role of phosphorylation on the structural dynamics and function of types III and IV intermediate filaments. Exp Cell Res 2007; 313: 2098-2109
40. Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996; 58: 1323-1337
41. Stogios PJ, Downs GS, Jauhal JJ, Nandra SK, Prive GG. Sequence and structural analysis of BTB domain proteins. Genome Biol 2005; 6: R82.
42. Stogios PJ, Prive GG. The BACK domain in BTB-kelch proteins. Trends Biochem Sci 2004; 29: 634-637
43. Sumara I, Quadroni M, Frei C, Olma MH, Sumara G, Ricci R, et al. A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. Dev Cell 2007; 12: 887-900.
44. Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Hohne W, et al. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA 2004; 101: 10155-10160
45. Udd B. Molecular biology of distal muscular dystrophies-sarcomeric proteins on top. Biochim Biophys Acta 2007; 1772: 145-158
46. Udd B. 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. Neuromuscul Disord 2009; 19: 429-438
47. Uyama E, Uchino M, Chateau D, Tome FM. Autosomal recessive oculo-pharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscul Disord 1998; 8: 119-125
48. Voit T, Kutz P, Leube B, Neuen-Jacob E, Schroder JM, Cavallotti D, et al. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord 2001; 11: 11-19
49. Wallgren-Pettersson C, Lehtokari VL, Kalimo H, Paetau A, Nuutinen E, Hackman P, et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007; 130: 1465-1476
50. Wu YL, Gong Z. A novel zebrafish kelchlike gene klhl and its human ortholog KLHL display conserved expression patterns in skeletal and cardiac muscles. Gene 2004; 338: 75-83.
51. Zhang DD, Lo SC, Cross JV, Templeton DJ, Hannink M. Keap1 is a redox-regulated substrate adaptor protein for a Cul3-dependent ubi-quitin ligase complex. Mol Cell Biol 2004; 24: 10941-10953
52. Zheng N, Schulman BA, Song L, Miller JJ, Jeffrey PD, Wang P, et al. Structure of the Cul1-Rbx1-Skp1-F boxSkp2 SCF ubiquitin ligase complex. Nature 2002; 416: 703-709