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| pubmed-article:9039265 | lifeskim:mentions | umls-concept:C1711351 | lld:lifeskim |
| pubmed-article:9039265 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:9039265 | pubmed:dateCreated | 1997-3-11 | lld:pubmed |
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| pubmed-article:9039265 | pubmed:abstractText | Ca2+ channel beta subunits regulate voltage-dependent calcium currents through direct interaction with alpha 1 subunits. The beta- and alpha 1-binding motifs are conserved, and all beta subunits can stimulate current amplitude, voltage dependence, and kinetics when coexpressed with various alpha 1 subunits. We used a positional candidate approach to determine that the ataxia and seizures in the lethargic (lh) mouse arise from mutation of the beta-subunit gene Cchb4 on mouse chromosome 2. A four-nucleotide insertion into a splice donor site results in exon skipping, translational frameshift, and protein truncation with loss of the alpha 1-binding site. The lethargic phenotype is the first example of a mammalian neurological disease caused by an inherited defect in a non-pore-forming subunit of a voltage-gated ion channel. | lld:pubmed |
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| pubmed-article:9039265 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9039265 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9039265 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:9039265 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9039265 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:9039265 | pubmed:issn | 0092-8674 | lld:pubmed |
| pubmed-article:9039265 | pubmed:author | pubmed-author:MeislerM HMH | lld:pubmed |
| pubmed-article:9039265 | pubmed:author | pubmed-author:JonesJ MJM | lld:pubmed |
| pubmed-article:9039265 | pubmed:author | pubmed-author:NoebelsJ LJL | lld:pubmed |
| pubmed-article:9039265 | pubmed:author | pubmed-author:BurgessD LDL | lld:pubmed |
| pubmed-article:9039265 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9039265 | pubmed:day | 7 | lld:pubmed |
| pubmed-article:9039265 | pubmed:volume | 88 | lld:pubmed |
| pubmed-article:9039265 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9039265 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9039265 | pubmed:pagination | 385-92 | lld:pubmed |
| pubmed-article:9039265 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:9039265 | pubmed:year | 1997 | lld:pubmed |
| pubmed-article:9039265 | pubmed:articleTitle | Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. | lld:pubmed |
| pubmed-article:9039265 | pubmed:affiliation | Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA. | lld:pubmed |
| pubmed-article:9039265 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9039265 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9039265 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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