Nuclear envelope proteins and associated diseases

Current Opinion in Neurology

Volumn 13, Issue 5, 2000, Pages 533-539

  Nagano, Atsushi ^a,b   Arahata, Kiichi ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b TOKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EMERIN; ENVELOPE PROTEIN; LAMIN A; LAMIN C;

ALTERNATIVE RNA SPLICING; ARTICLE; ATRIOVENTRICULAR BLOCK; AUTOSOMAL DOMINANT DISORDER; CELL NUCLEUS MEMBRANE; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE MUTATION; HYPERTROPHIC CARDIOMYOPATHY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPODYSTROPHY; PROTEIN DEFICIENCY;

ANIMALS; CARDIOMYOPATHY, HYPERTROPHIC; DISEASE MODELS, ANIMAL; HUMANS; LIPODYSTROPHY; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; NEUROMUSCULAR DISEASES; NUCLEAR ENVELOPE; NUCLEAR PROTEINS;

EID: 0033786789     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019052-200010000-00005     Document Type: Article

References (64)

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2. The nuclear envelope serves as an intermediary between the ER and Golgi complex in the intracellular parasite Toxoplasma gondii
3. Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation
4. Integral membrane proteins of the nuclear envelope are dispersed throughout the endoplasmic reticulum during mitosis
5. Integral membrane proteins specific to the inner nuclear membrane and associated with the nuclear lamina
6. cDNA cloning and characterization of lamina-associated polypeptide 1C (LAP1C), an integral protein of the inner nuclear membrane
7. The lamin B receptor of the nuclear envelope inner membrane: A polytopic protein with eight potential transmembrane domains
8. Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane
9. MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin
10. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
11. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
12. Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane
13. A visual screen of a GFP-fusion library identifies a new type of nuclear envelope membrane protein
14. Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR
15. Heart to heart: From nuclear proteins to Emery-Dreifuss muscular dystrophy
16. LAP2 binding protein 1 (L2BP1/BAF) is a candidate mediator of LAP2-chromatin interaction
17. Nuclear lamins: Their structure, assembly, and interactions
18. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
19. Distribution of emerin during the cell cycle
20. Demonstration of mechanical connections between integrins, cytoskeletal filaments, and nucleoplasm that stabilize nuclear structure
21. Unusual type of benign X-linked muscular dystrophy
22. Emery-Dreifuss muscular dystrophy
23. Emery-Dreifuss muscular dystrophy: Report of five cases in a family and review of the literature
24. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
25. A genetic variant of Emery Dreifuss muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis
26. Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression
27. Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease
28. Emery-Dreifuss syndrome
29. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
30. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample
31. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
32. Isolation and characterization of the complete mouse emerin gene
33. Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies
34. Emery-Dreifuss muscular dystrophy
35. Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers
36. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy
37. Heart-specific localization of emerin: New insights into Emery-Dreifuss muscular dystrophy
38. Emery-Dreifuss syndrome
39. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype
40. The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane
41. Immunocytochemical detection of emerin within the nuclear matrix
42. Direct interaction between emerin and lamin A
43. Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy
44. Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD)
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46. 60th ENMC International Workshop: Non X-linked Emery-Dreifuss muscular dystrophys-7 June 1998, Naarden, The Netherlands
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48. Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy
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50. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
51. Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy
52. Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein
53. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
54. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
55. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies
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57. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
58. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22
59. Nuclear lamin NC R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
60. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
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62. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
63. Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes
64. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy