Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency

American Journal of Pathology

Volumn 160, Issue 1, 2002, Pages 265-270

  Minetti, Carlo ^a   Bado, Massimo ^a   Broda, Paolo ^a   Sotgia, Federica ^a,b   Bruno, Claudio ^a   Galbiati, Ferruccio ^b   Volonte, Daniela ^b   Lucania, Giuseppe ^c   Pavan, Antonio ^d   Bonilla, Eduardo ^e   Lisanti, Michael P ^b   Cordone, Giuseppe ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF L'AQUILA   (Italy)

^e Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN 3;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CAVEOLA; CHILD; ELECTRON MICROSCOPY; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SARCOLEMMA; STAINING; TRANSVERSE TUBULAR SYSTEM;

EID: 0036142950     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)64370-2     Document Type: Article

References (28)

1. Molecular and cellular biology of caveolae: Paradoxes and plasticities
2. Caveolae and caveolins
3. Molecular genetics of the caveolin gene family: Implications for human cancers, diabetes, Alzheimer's disease, and muscular dystrophy
4. Caveolin proteins in signaling, oncogenic transformation, and muscular dystrophy
5. Caveolin, a protein component of caveolae membrane coats
6. Oligomeric structure of caveolin: Implications for caveolae membrane organization
7. Identification of peptide and protein ligands for the caveolin-scaffolding domain: Implications for the interaction of caveolin with caveolae-associated proteins
8. Cell-type and tissue-specific expression of caveolin-2: Caveolins-1 and -2 co-localize and form a stable hetero-oligomeric complex in vivo
9. Caveolins, a family of scaffolding proteins for organizing "pre-assembled signaling complexes" at the plasma membrane
10. Identification, sequence, and expression of caveolin-2 defines a caveolin gene family
11. Identification, sequence and expression of an invertebrate caveolin gene family from the nematode Caenorhabditis elegans: Implications for the molecular evolution of mammalian caveolin genes
12. M-caveolin, a muscle-specific caveolin-related protein
13. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle
14. 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
15. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
16. Caveolin-3 associates with developing T-tubules during muscle differentiation
17. An electronmicroscopic study of the T-system in progressive muscular dystrophy (Duchenne) using lanthanum
18. The structure of the Tsystem in human muscular dystrophy
19. Permeability studies in heat-induced injury of skeletal muscle using lanthanum as fine structural tracer
20. Anastomoses of transverse tubules with terminal cisternae in polymyositis
21. 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
22. Caveolin-3 deficiency causes muscle degeneration in mice
23. Formation of elaborate network of T-system tubules in cultured skeletal muscle with special reference to the T-system formation
24. Simultaneous maturation of transverse tubules and sarcoplasmic reticulum during muscle differentiation in the mouse
25. Caveolin-3 is associated with the T-tubules of mature skeletal muscle fibers
26. Role of cholesterol in developing T-tubules: Analogous mechanisms for T-tubule and caveolae biogenesis
27. Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and T-tubule abnormalities
28. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease