IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia
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چکیده
منابع مشابه
IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.
Deficiency in the IKAP/Elp1 protein leads to the recessive sensory autosomal congenital neuropathy which is called familial dysautonomia (FD). This protein was originally identified as a role player in transcriptional elongation being a subunit of the RNAPII transcriptional Elongator multi-protein complex. Subsequently, IKAP/Elp1 was shown to play various functions in the cytoplasm. Here, we de...
متن کاملFamilial dysautonomia.
Familial dysautonomia is a rare syndrome of childhood affecting the nervous system. As the name suggests, dysfunction of the autonomic system is a prominent feature. It was first recognized as a separate entity by Riley, Day, Greeley and Langford (1949), the first large series being described by Riley (1952). So far, about 70 patients have been recorded. Though the fully developed syndrome is u...
متن کاملTranscription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia.
Mutations in IKBKAP, encoding a subunit of Elongator, cause familial dysautonomia (FD), a severe neurodevelopmental disease with complex clinical characteristics. Elongator was previously linked not only with transcriptional elongation and histone acetylation but also with other cellular processes. Here, we used RNA interference (RNAi) and fibroblasts from FD patients to identify Elongator targ...
متن کاملFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
متن کاملFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2011
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddr036