CAVEOLAE AND CAVEOLINS IN MUSCULAR DYSTROPHIES

Pubblicazioni Scientifiche

• AMERICAN JOURNAL OF HUMAN GENETICS

  Molecular genetics of the caveolin gene family:: Implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Early decrease of IIx myosin heavy chain transcripts in Duchenne muscular dystrophy

• BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

  Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy

• CURRENT OPINION IN GENETICS & DEVELOPMENT

  Muscular dystrophies: alterations in a limited number of cellular pathways?

• FEBS LETTERS

  Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene - Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome

• JOURNAL OF BIOLOGICAL CHEMISTRY

  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

• JOURNAL OF BIOLOGICAL CHEMISTRY

  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

• JOURNAL OF BIOLOGICAL CHEMISTRY

  Caveolin-3 directly interacts with the C-terminal tail of β-dystroglycan -: Identification of a central WW-like domain within caveolin family members

• NEUROLOGY

  Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

• PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

  Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype