Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

Journal of Cell Biology

Volumn 152, Issue 5, 2001, Pages 1107-1114

  Cifuentes Diaz, Carmen ^a   Frugier, Tony ^a   Tiziano, Francesco D ^a   Lacène, Emmanuelle ^a   Roblot, Natacha ^a   Joshi, Vandana ^a   Moreau, Marie Helene ^b   Melki, Judith ^a  

^a UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^b CENTRE HOSPITALIER SUD FRANCILIEN   (France)

Author keywords

Cre loxP; Sarcolemma; Skeletal muscle; SMN; Spinal muscular atrophy

Indexed keywords

CRE LOX P PROTEIN; CRE RECOMBINASE; CREATINE KINASE; DYSTROPHIN; UNCLASSIFIED DRUG; UTROPHIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL SURVIVAL; CONTROLLED STUDY; DISEASE SEVERITY; DYSTROPHY; ENZYME ACTIVATION; EXON; GENE DELETION; GENE ISOLATION; GENE MUTATION; MOLECULAR STABILITY; MOTONEURON; MOTOR NEURON DISEASE; MOUSE; MOUSE MUTANT; MUSCLE DENERVATION; MUSCLE NECROSIS; MUSCULAR DYSTROPHY; NERVE DEGENERATION; NONHUMAN; PARALYSIS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REGULATORY MECHANISM; RESTRICTION MAPPING; SARCOLEMMA; SKELETAL MUSCLE; SMN GENE; SPINAL MUSCULAR ATROPHY;

ANIMALS; BIOLOGICAL MARKERS; CELL SIZE; CREATINE KINASE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; CYTOSKELETAL PROTEINS; DYSTROPHIN; EVANS BLUE; EXONS; FLUORESCENT ANTIBODY TECHNIQUE; MEMBRANE PROTEINS; MICE; MOTOR NEURONS; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; MUSCULAR DYSTROPHIES; NERVE TISSUE PROTEINS; NEUROMUSCULAR JUNCTION; RNA-BINDING PROTEINS; SARCOLEMMA; SEQUENCE DELETION; UTROPHIN;

ANIMALIA; MURINAE;

EID: 0035809926     PISSN: 00219525     EISSN: None     Source Type: Journal    
DOI: 10.1083/jcb.152.5.1107     Document Type: Article

References (25)

1. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice
2. Spinal muscular atrophy and hypertrophy of the calves
3. Constitutive muscular abnormalities in culture in spinal muscular atrophy
4. X chromosome-linked muscular dystrophy (mdx) in the mouse
5. Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice
6. Disruption of the betasarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E
7. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
8. Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
9. Extracts of muscle biopsies from patients with spinal muscular atrophies inhibit neurite outgrowth from spinal neurons
10. A mouse model for spinal muscular atrophy
11. Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models
12. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy
13. Identification and characterization of a spinal muscular atrophy-determining gene
14. A novel nuclear structure containing the survival of motor neuron proteins
15. Histological and histochemical changes from cases of chronic juvenile and early adult spinal muscular atrophy (the Kugelberg-Welander syndrome)
16. Spinal muscular atrophy
17. Gene targeting restricted to mouse striated muscle lineage
18. -/- mice and results in a mouse with spinal muscular atrophy
19. Workshop report: International SMA collaboration
20. Chronic spinal muscular atrophy
21. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
22. Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage P1
23. Laminin, fibronectin, and collagen in synaptic and extrasynaptic portions of muscle fiber basement membrane
24. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
25. Bacteriophage P1 site-specific recombination. I. Recombination between loxP sites