Mutations in the gene encoding immunoglobulin k-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

• Published in: Nature genetics Vol. 29; no. 1; pp. 75 - 77
• Main Authors: Grohmann, Katja, Schuelke, Markus, Diers, Alexander, Hoffmann, Katrin, Lucke, Barbara, Adams, Coleen, Bertini, Enrico, Leonhardt-Horti, Hajnalka, Muntoni, Francesco, Ouvrier, Robert, Pfeufer, Arne, Rossi, Rainer, Van Maldergem, Lionel, Wilmshurst, Jo M, Wienker, Thomas F, Sendtner, Michael, Rudnik-Schoeneborn, Sabine, Zerres, Klaus, Huebner, Christoph
• Format: Journal Article
• Language: English
• Published: 01.09.2001

Classic spinal muscular atrophy (SMA) is caused by mutations in the telomeric copy of SMN1. Its product is involved in various cellular processes, including cytoplasmic assembly of spliceosomal small nuclear ribonucleoproteins, pre-mRNA processing and activation of transcription. Spinal muscular atr...