Caveolin-deficient mice: Insights into caveolar function and human disease

Journal of Clinical Investigation

Volumn 108, Issue 11, 2001, Pages 1553-1561

  Razani, B ^a   Lisanti, M P ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN;

ANIMAL CELL; ANIMAL EXPERIMENT; BIOGENESIS; CELL FUNCTION; CELL PROLIFERATION; CELL STRUCTURE; ENDOCYTOSIS; GENE MUTATION; KNOCKOUT MOUSE; MOUSE; MUSCULAR DYSTROPHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; REVIEW; TRANSVERSE TUBULAR SYSTEM;

AMINO ACID SEQUENCE; ANIMALS; CAVEOLAE; CAVEOLIN 1; CAVEOLINS; CELL DIVISION; ENDOCYTOSIS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUTATION; NITRIC OXIDE SYNTHASE;

EID: 0035213597     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200114611     Document Type: Review

References (45)

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6. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle
7. Cell-type and tissue-specific expression of caveolin-2. Caveolins 1 and 2 co-localize and form a stable hetero-oligomeric complex in vivo
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11. Targeted down-regulation of caveolin-1 is sufficient to drive cell transformation and hyperactivate the p42/44 MAP kinase cascade
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14. Caveolin-2 localizes to the golgi complex but redistributes to plasma membrane, caveolae, and rafts when co-expressed with caveolin-1
15. Recombinant expression of caveolin-1 in oncogenically transformed cells abrogates anchorage-independent growth
16. Caveolin-1, a putative tumour suppressor gene
17. Caveolin proteins in signaling, oncogenic transformation and muscular dystrophy
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19. Invasion activating caveolin-1 mutation in human scirrhous breast cancers
20. Clathrin-mediated endocytosis: Membrane factors pull the trigger
21. Non-coated membrane invaginations are involved in binding and internalization of cholera and tetanus toxins
22. Filipin-sensitive caveolae-mediated transport in endothelium: Reduced transcytosis, scavenger endocytosis, and capillary permeability of select macromolecules
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24. Caveolae-deficient endothelial cells show defects in the uptake and transport of albumin in vivo
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26. Caveolae, caveolin and caveolin-rich membrane domains: A signalling hypothesis
27. Acylation targets endothelial nitric-oxide synthase to plasmalemmal caveolae
28. Endothelial nitric oxide synthase is regulated by tyrsosine phosphorylation and interacts with caveolin-1
29. Reciprocal regulation of endothelial nitric-oxide synthase by calcium-calmodulin and caveolin
30. In vivo delivery of the caveolin-1 scaffolding domain inhibits nitric oxide synthesis and reduces inflammation
31. Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins
32. Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and T-tubule abnormalities
33. Caveolin-3 deficiency causes muscle degeneration in mice
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35. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
36. Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex
37. Caveolin-3 in muscular dystrophy
38. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
39. Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity
40. Caveolin-3 associates with developing T-tubules during muscle differentiation
41. Targeted down-regulation of caveolin-3 is sufficient to inhibit myotube formation in differentiating C2C12 myoblasts. Transient activation of p38 mitogen-activated protein kinase is required for induction of caveolin-3 expression and subsequent myotube formation
42. Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency
43. Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutants and rescues wild-type caveolin-3
44. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
45. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease