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rdf:type |
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lifeskim:mentions |
umls-concept:C0015295,
umls-concept:C0017337,
umls-concept:C0026336,
umls-concept:C0047421,
umls-concept:C0332185,
umls-concept:C0599215,
umls-concept:C1332111,
umls-concept:C1420737,
umls-concept:C1441414,
umls-concept:C1517945,
umls-concept:C1552933,
umls-concept:C1553874,
umls-concept:C1578820,
umls-concept:C2700485
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pubmed:issue |
2-3
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pubmed:dateCreated |
2005-3-8
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pubmed:abstractText |
HMG-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine catabolism. We report a new Spanish patient who bears the frequent nonsense mutation G109T (Mediterranean mutation). This mutation can produce aberrant splicing with three mRNA variants: one of the expected size, the second with deletion of exon 2, and the third with deletion of exons 2 and 3. Recently our group proposed a 3D model for human HL containing a (beta-alpha)(8) (TIM) barrel structure. We have studied the effect of the deletions of exon 2 and exons 2 plus 3 on the proposed HL model. Exon 2 skipping led to the loss of beta-sheet 1, and the skipping of exons 2 and 3 caused the disappearance of alpha helix 1 and beta-sheets 1 and 2.-
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0301-4622
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pubmed:author |
pubmed-author:CasalsNuriaN,
pubmed-author:Gómez-PuertasPaulinoP,
pubmed-author:HegardtFaustogF,
pubmed-author:López-ViñasEduardoE,
pubmed-author:LluchDoloresD,
pubmed-author:MenaoSebastiánS,
pubmed-author:MirCeciliaC,
pubmed-author:MorenoSusanaS,
pubmed-author:Pérez-CerdáCeliaC,
pubmed-author:PiéAngelesA,
pubmed-author:PiéJuanJ,
pubmed-author:PuisacBeatrizB,
pubmed-author:UgarteMagdalenaM
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
115
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
241-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15752612-Base Sequence,
pubmed-meshheading:15752612-Binding Sites,
pubmed-meshheading:15752612-Codon, Nonsense,
pubmed-meshheading:15752612-Exons,
pubmed-meshheading:15752612-Humans,
pubmed-meshheading:15752612-Infant,
pubmed-meshheading:15752612-Male,
pubmed-meshheading:15752612-Models, Molecular,
pubmed-meshheading:15752612-Oxo-Acid-Lyases,
pubmed-meshheading:15752612-Protein Structure, Secondary,
pubmed-meshheading:15752612-Protein Structure, Tertiary,
pubmed-meshheading:15752612-Spain
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pubmed:year |
2005
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pubmed:articleTitle |
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
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pubmed:affiliation |
Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, C/Domingo Miral s/n, E-50009 Zaragoza, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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