Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis

Author:

Baklouti Faouzi,Morinière Madeleine,Haj-Khélil Amel,Fénéant-Thibault Madeleine,Gruffat Henri,Couté Yohann,Ninot Alain,Guitton Corinne,Delaunay Jean

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference38 articles.

1. Organization of the human protein 4.1 genomic locus: new insights into the tissue-specific alternative splicing of the pre-mRNA;Baklouti;Genomics,1997

2. Protein 4.1, a multifunctional protein of the erythrocyte membrane skeleton: structure and functions in erythrocytes and nonerythroid cells;Takakuwa;Int. J. Hematol.,2000

3. Heterogeneity of mRNA and protein products arising from the protein 4.1 gene in erythroid and nonerythroid tissues;Tang;J. Cell Biol.,1990

4. Tissue- and development-specific alternative RNA splicing regulates expression of multiple isoforms of erythroid membrane protein 4.1;Conboy;J. Biol. Chem.,1991

5. Differential utilization of translation initiation sites in alternatively spliced mRNAs arising from the protein 4.1 gene;Huang;Trans. Assoc. Am. Physicians,1992

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