Emerin expression in tubular aggregates

Acta Neuropathologica

Volumn 107, Issue 6, 2004, Pages 546-552

  Manta, Panagiota ^a   Terzis, Gerasimos ^a   Papadimitriou, Constantinos ^a   Kontou, Chrysanthi ^a   Vassilopoulos, Demetris ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Emerrin; Immunohistochemistry; Sarcoplasmic reticulum; Skeletal muscle pathology; Tubular aggregates

Indexed keywords

ADHALIN; DYSFERLIN; DYSTROPHIN; EMERIN; HEAT SHOCK PROTEIN; LAMIN A; MEROSIN; SARCOGLYCAN; VALPROIC ACID;

ADULT; ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; ELECTROMYOGRAPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SEIZURE; SENSORY NERVE CONDUCTION;

ADULT; AMP DEAMINASE; CALCIUM-TRANSPORTING ATPASES; CYCLOOXYGENASE 2; HUMANS; HYDRO-LYASES; IMMUNOHISTOCHEMISTRY; ISOENZYMES; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MYOPATHIES, STRUCTURAL, CONGENITAL; NAD; NUCLEAR PROTEINS; PHOSPHOPYRUVATE HYDRATASE; PROSTAGLANDIN-ENDOPEROXIDE SYNTHASES; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; THYMOPOIETINS;

EID: 2942678842     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-004-0851-1     Document Type: Article

References (44)

1. Bionne S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D (1994) Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8:323-332
2. Bonne G, Barletta MR di, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21:285-288
3. Bradley WG (1969) Ultrastructural changes in adynamia episodica hereditaria and normokalaemic periodic paralysis. Brain 92:379-390
4. Cartegni L, Di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi NM, Mora M, Blasi C di, Cornelio F, Merlini L, Villa A, Cobianchi F, Toniolo D (1997) Heat specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet 6:2257-2264
5. Clements L, Manilal S, Love DR, Morris GE (2000) Direct interaction between emerin and lamin A. Biochem Biophys Res Commun 267:709-714
6. Doriguzzi C, Mongini T, Jeantet A, Monga G (1984) Tubular aggregates in a case of osteomalacic myopathy due to anti-convulsant drugs. Clin Neuropathol 3:42-45
7. Ellis JA, Craxton M, Yates JRW, Kendrick-Jones J, Brown C (1998) Abberant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to EDMD phenotype. J Cell Sci 111:781-792
8. Engel WK, Bishop DW, Cunningham GG (1970) Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastuct Res 31:507-525
9. Fairly EAL, Kendrick-Jones J, Ellis JA (1999) The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. J Cell Sci 112:2571-2582
10. Fatkin D, MacRae G, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, Girolami U de, Seidman JG, Seidman CE (1999) Missence mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease. N Engl J Med 1:1715-1724
11. Gant TM, Wilson KL (1997) Nuclear assembly. Annu Rev Cell Dev Biol 13:669-695
12. Harborth J, Elbashir SM, Beckert K, Tuschl T, Weber K (2001) Identification of essential genes in cultured mammalian cells using small interfering RNAs. J Cell Sci 114:4557-4565
13. Ikezoe K, Furuya H, Ohyagi Y, Osoegawa M, Nishino I, Nonaka I, Kira J (2003) Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress. Acta Neuropathol 105:603-609
14. Jacques TS, Holton J, Watts PM, Wills AJ, Smoth SE, Hanna MG (2002) Tubular aggregates myopathy with abnormal pupils and skeletal deformities. J Neurol Neurosurg Psychiatry 73: 324-326
15. Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwrtz K, Bonne G (2001) A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromusc Disord 11:542-546
16. Kuncl RW, Pestronk A, Lane J, Alexander E (1989) The MRL +/+ mouse: a new model of tubular aggregates which are gender- and age-related. Acta Neuropathol 78:615-620
17. Lee KK, Haragushi T, Lee RS, Koujin T, Hiraoka Y, Wilson KL (2001) Distinct functional domains in emerin bind to lamin A and DNA-bridging protein BAF. J Cell Sci 114:4567-4573
18. Manilal S, Nguyen TM, Sewry C, Morris GE (1996) The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 5:801-808
19. Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Liense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris GE (1998) Mutations in Emery-Dreifuss muscular dystrophy and their effect on emerin protein expression. Hum Mol Genet 7:855-864
20. Manilal S, Sewry C, Pereboev A, Man N, Gobbi P, Hawkes S, Love DR, Morris GE (1999) Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet 8:353-359
21. Martin JE, Mather K, Swash M, Gray AB (1991) Expression of heat-shock protein epitopes in tubular aggregates. Muscle Nerve 14:219-225
22. Martin JJ, Ceuterick C, Van Goethem G (1997) On a dominantly inherited myopathy With tubular aggregates. Neuromusc Disord 7:512-520
23. Morris GE, Manilal S (1999) Heart to heart from nuclear proteins to Emery-Dreifuss muscular dystrophy. Hum Mol Genet 8:1847-1851
24. Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K (2000) Identification of mutations in the gene encode lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9:1453-1459
25. Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 12:254-259
26. Negro ADV, Angulo JM, Pomar JMR, Errasti CA (1982) Tubular aggregates in skeletal muscle of chronic alcoholic patients. Acta Neuropathol 56:250-254
27. Ostlund C, Ellenberg J, Hallberg E, Lippincott-Schwartz J, Worman HJ (1999) Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein. J Cell Sci 112: 1709-1719
28. Ostlund C, Bonne G, Schwartz K, Worman HJ (2001) Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigun-type partial lipodystrophy. J Cell Sci 114:4435-4445
29. Rahario WH, Enarson P, Sullivan T, Stewart CL, Burke B (2001) Nuclear envelope defects associated with LMNA mutations causing dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy. J Cell Sci 114:4447-4457
30. Reske-Nielson E, Haase J, Kelstrup J (1975) Malignant hyperthermia in a family. Acta Path Microbiol Scand 83:651-660
31. Rosenberg NL, Neville HE, Ringel SP (1985) Tubular aggregates. Their association with neuromuscular diseases, including the syndrome of myalgia/cramps. Arch Neurol 42:973-976
32. Salviati G, Pierobon-Bormioli S, Betto R, Damiani E, Angelini C, Ringel SP, Salvatori S, Margreth A (1985) Tubular aggregates: sarcoplasmic reticulum origin, calcium storage ability and functional implications. Muscle Nerve 8:299-306
33. Schotland D (1968) Ultrastuctural abnormalities in myotonic dystrophy including an unusual T-system alteration. J Neuropathol Exp Neurol 27:109-110
34. Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F (2001) Skeletal muscle pathology in autosomal dominant muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 27:281-290
35. Sieb JP, Tolksdorf K, Dengler R, Jerusalem F (1996) An autosomal recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family. Neuromusc Disord 6:115-119
36. Sipila I, Simell O, Rapola J, Sainio K, Tuuteri L (1979) Gyrate atrophy of the choroids and retina with hyperornithinaemia: tubular aggregates and atrophy in muscle. Neurology 29:996-1005
37. Squarzoni S, Sabatelli P, Capanni C, Petrini S, Ognibene A, Toniolo D, Cobianchi F, Zauli G, Bassini A, Baracca A, Guarnieri C, Merlini L, Maraldi NM (2000) Emerin presence in platelets. Acta Neuropathol 100:291-298
38. Squarzoni S, Sabatelli P, Ognibese A, Toniolo D, Cartegni L, Cobianchi F, Petrini S, Merlini L, Maraldi NM (1998) Immunocytochemical detection of emerin within the nuclear matrix. Neuromusc Disord 8:338-344
39. Stamboulis E, Manta P, Kararizou E, Grivas I (1993) Whipple's disease with tubular aggregates in asymptomatic muscle. Clin Neuropathol 12:121-124
40. Stuurman N, Heins S, Aebi U (1998) Nuclear lamins: their structure, assembly and interactions. J Struct Biol 122:42-66
41. Sullivan T, Escalante-Alcalde D, Bhatt H, Anver N, Bhatt N, Nagashima K, Stewart CL, Burke B (1999) Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 147:913-919
42. Tulinius MH, Lundberg A, Oldfors A (1996) Early-onset myopathy with tubular aggregates. Pediatr Neurol 15:68-71
43. Vaughman OA, Alvarez-Reyes M, Bridger JM, Broers JLV, Ramaekers FCS, Wehnert M, Morris GA, Whitfield WGF, Hutchison CJ (2001) Both emerin and lamin C depend on lamin A for localization at the nuclear envelope. J Cell Sci 114:2577-2590
44. Yates JRW, Wehnert M (1999) The Emery-Dreifuss muscular dystrophy mutation database. Neuromusc Disord 9:199