Linked Life Data

8327147

Source:http://linkedlifedata.com/resource/pubmed/id/8327147

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
1993-8-9
pubmed:abstractText
Recurrent rhabdomyolysis due to decreased glycolysis occurred during strenuous exercise in patients with lactate dehydrogenase-A-subunit (LDH-A; muscle) deficiency. Enzyme activities of LDH in the muscle were decreased less than 8% of the control value. The isozyme pattern revealed only one band of B4. The level of LDH-A mRNA was not decreased. The direct sequencing of the reverse transcription-polymerase chain reaction product that corresponds to exon 6 revealed a deletion of 20 nucleotides. Immunofluorescence staining showed the presence of LDH-A protein within the cytoplasm. These findings suggest that an incomplete LDH-A protein lacking the subunit contact subdomain could not assemble into a tetrameric structure that has an enzymatic activity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1414-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency.
pubmed:affiliation
First Department of Medicine, Hamamatsu University School of Medicine, Japan.
pubmed:publicationType
Journal Article, Case Reports