| 概要 |
Deafness, cataract, impaired intellectual development, and polyneuropathy (DCIDP) is a novel autosomal recessive syndrome with varying degrees of neurosensorial dysfunctions. DCIDP is caused by mutations in PSMC3 gene, encoding the proteasome ATPase subunit Rpt5. The proteasome is a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins to maintain cellular protein homeostasis and to control the abundance of many regulatory molecules.
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| 著者 |
Kroll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bar S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Kruger E, Muller J, Strahle U, Dollfus H |
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