Source:http://linkedlifedata.com/resource/pubmed/id/18628786
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
12
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pubmed:dateCreated |
2008-11-21
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pubmed:abstractText |
The triple A syndrome is caused by autosomal recessively inherited mutations in the AAAS gene and is characterized by achalasia, alacrima and adrenal insufficiency as well as progressive neurological impairment. We report on a 14-year-old girl with slowly progressive axonal motor neuropathy with conspicuous muscle wasting of hypothenars and calves as well as alacrima. The mutation analysis of the AAAS gene revealed a compound heterozygous mutation: a c.251G>A mutation in exon 2 that had been reported previously, and a novel c.1288C>T mutation in exon 14. At the transcriptional level, the c.251G>A transition results in an aberrant splicing and decay of this RNA strand so that the particular clinical picture results from the novel c.1288C>T, (p.Leu430Phe, L430F) mutation in a hemizygous form. With transfection experiments, we demonstrate that GFP-ALADIN(L430F) correctly localizes to nuclear pore complexes. Therefore, we conclude that this point mutation impairs ALADIN function at the nuclear pore.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/AAAS protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Leucine,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Pore Complex Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Phenylalanine
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1018-4813
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1499-506
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pubmed:meshHeading |
pubmed-meshheading:18628786-Amino Acid Substitution,
pubmed-meshheading:18628786-DNA Mutational Analysis,
pubmed-meshheading:18628786-Female,
pubmed-meshheading:18628786-HeLa Cells,
pubmed-meshheading:18628786-Humans,
pubmed-meshheading:18628786-Lacrimal Apparatus Diseases,
pubmed-meshheading:18628786-Leucine,
pubmed-meshheading:18628786-Muscular Atrophy,
pubmed-meshheading:18628786-Musculoskeletal Abnormalities,
pubmed-meshheading:18628786-Nerve Tissue Proteins,
pubmed-meshheading:18628786-Nuclear Pore Complex Proteins,
pubmed-meshheading:18628786-Peripheral Nervous System Diseases,
pubmed-meshheading:18628786-Phenylalanine,
pubmed-meshheading:18628786-Point Mutation,
pubmed-meshheading:18628786-Syndrome,
pubmed-meshheading:18628786-Transfection
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pubmed:year |
2008
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pubmed:articleTitle |
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.
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pubmed:affiliation |
Children's Hospital, Technical University Dresden, Dresden, Germany.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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