A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

Genes and Development

Volumn 24, Issue 5, 2010, Pages 438-442

  Cho, Sungchan ^a   Dreyfuss, Gideon ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Motor neuron degenerative disease; Pre mRNA splicing; Protein degradation signal (degron); Protein stability; Spinal muscular atrophy (SMA); Survival of motor neurons (SMN)

Indexed keywords

MESSENGER RNA; SURVIVAL MOTOR NEURON PROTEIN 2;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL CULTURE; CELL VIABILITY; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GENE DELETION; MUTAGENESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN STABILITY; SIGNAL TRANSDUCTION; SPINAL MUSCULAR ATROPHY;

AMINO ACID SEQUENCE; CELL LINE; EXONS; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; MUTATION; PROTEIN STABILITY; SEQUENCE ALIGNMENT; SEVERITY OF ILLNESS INDEX; SIGNAL TRANSDUCTION; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 77649114471     PISSN: 08909369     EISSN: 15495477     Source Type: Journal    
DOI: 10.1101/gad.1884910     Document Type: Article

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