Inhibition of Proteasome Activity Promotes the Correct Localization of Disease-Causing α-Sarcoglycan Mutants in HEK-293 Cells Constitutively Expressing β-, γ-, and δ-Sarcoglycan

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

Seng H. Cheng, Richard J. Gregory, John Marshall et al. · Cell · 1990 · 1.8K citations

Life Sciences, Molecular Biology, Molecular Genetics +12

Degradation of CFTR by the ubiquitin-proteasome pathway

Cristina L. Ward, Satoshi ŌMURA, Ron R. Kopito · Cell · 1995 · 1.3K citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy

S. Noguchi, Elizabeth M. McNally, Kamel Ben Othmane et al. · Science · 1995 · 510 citations

Medicine, Genetics, Molecular Genetics +15

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Steven L. Roberds, France Leturcq, Valérie Allamand et al. · Cell · 1994 · 457 citations

Life Sciences, Genetics, Molecular Genetics +11

β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

Carsten G. Bönnemann, Raju Modi, S. Noguchi et al. · Nature Genetics · 1995 · 446 citations

Medicine, Genetics, Molecular Genetics +10