ArticleThe Journal of clinical investigation1993
Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.
Article in The Journal of clinical investigation, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 67 citations in OpenAlex.
- The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases-The Symptomatic Heterozygote Issue.Genes · 2023Review
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- Role of the HPRG Component of Striated Muscle AMP Deaminase in the Stability and Cellular Behaviour of the Enzyme.Biomolecules · 2018Review
- Insertion of a knockout-first cassette in Ampd1 gene leads to neonatal death by disruption of neighboring genes expression.Scientific reports · 2016Article
- AMP deaminase 1 gene polymorphism and heart disease-a genetic association that highlights new treatment.Cardiovascular drugs and therapy · 2014Review
- The molecular basis of skeletal muscle weakness in a mouse model of inflammatory myopathy.Arthritis and rheumatism · 2012Article
- AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.Journal of applied genetics · 2011Article
- AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.Journal of neurology · 2008Article
- ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.Nature genetics · 2008Article
- Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.Human genetics · 2005Article
- Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.Journal of inherited metabolic disease · 2001Article
- Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.The Journal of clinical investigation · 1997Article
- Regulation of rat AMP deaminase 3 (isoform C) by development and skeletal muscle fibre type.The Biochemical journal · 1997Article
- Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.Journal of inherited metabolic disease · 1997Review
- Investigation of muscle disease.Journal of neurology, neurosurgery, and psychiatry · 1996Review
- Characterization of human AMP deaminase 2 (AMPD2) gene expression reveals alternative transcripts encoding variable N-terminal extensions of isoform L.The Biochemical journal · 1995Article
- Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Alternative splicing of the mouse amelogenin primary RNA transcript.Calcified tissue international · 1994Article
- Molecular biology of AMP deaminase deficiency.Pharmacy world & science : PWS · 1994Review
- A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.The Journal of clinical investigation · 1994Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Approximately 2% of Caucasians and African-Americans are homozygous for a nonsense mutation in exon 2 of the AMPD1 (AMP deaminase) gene. These individuals have a high grade deficiency of AMPD activity in their skeletal muscle. More than 100 patients with AMPD1 deficiency have been reported to have symptoms of a metabolic myopathy, but it is apparent many individuals with this inherited defect are asymptomatic given the prevalence of this mutant. Results of the present study provide a potential molecular explanation for "correction" of this genetic defect. Alternative splicing eliminates exon 2 in 0.6-2% of AMPD1 mRNA transcripts in adult skeletal muscle. Expression studies document that AMPD1 mRNA, which has exon 2 deleted, encodes a functional AMPD peptide. A much higher percentage of alternatively spliced transcripts are found during differentiation of human myocytes in vitro. Transfection studies with human minigene constructs demonstrate that alternative splicing of the primary transcript of human AMPD1 is controlled by tissue-specific and stage-specific signals. Alternative splicing of exon 2 in individuals who have inherited this defect provides a mechanism for phenotypic rescue and variations in splicing patterns may contribute to the variability in clinical symptoms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.