| 概要 |
Faundes-Banka syndrome (FABAS) is rare neurodevelopmental disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphism. Mutations in EIF5A cause this disease. EIF5A encodes the eukaryotic translation factor 5A (eIF5A) that plays a pivotal role during translation. It is the only cellular protein known to undergo hypusination that is essential to resolve ribosomal stalling during the translation of proline-rich polypeptides.
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| 著者 |
Faundes V, Jennings MD, Crilly S, Legraie S, Withers SE, Cuvertino S, Davies SJ, Douglas AGL, Fry AE, Harrison V, Amiel J, Lehalle D, Newman WG, Newkirk P, Ranells J, Splitt M, Cross LA, Saunders CJ, Sullivan BR, Granadillo JL, Gordon CT, Kasher PR, Pavitt GD, Banka S |
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| 著者 |
Wator E, Wilk P, Biela A, Rawski M, Zak KM, Steinchen W, Bange G, Glatt S, Grudnik P |
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