ArticleAmerican journal of human genetics1997
Identification of point mutations in 41 unrelated patients affected with Menkes disease.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 100 citations in OpenAlex.
- Supply chain logistics - the role of the Golgi complex in extracellular matrix production and maintenance.Journal of cell science · 2022Review
- ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.Computational and structural biotechnology journal · 2020Article
- A novel nonsenseMolecular genetics and metabolism reports · 2017Article
- 13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.Metabolic brain disease · 2017Article
- Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).Metallomics : integrated biometal science · 2016Article
- Menkes disease: what a multidisciplinary approach can do.Journal of multidisciplinary healthcare · 2016Review
- Article
- Clinical utility gene card for: Menkes disease.European journal of human genetics : EJHG · 2011Article
- Splice site mutations in the ATP7A gene.PloS one · 2011Article
- ATP7A-related copper transport diseases-emerging concepts and future trends.Nature reviews. Neurology · 2011Review
- Copper in the brain and Alzheimer's disease.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2010Review
- Structural biology of copper trafficking.Chemical reviews · 2009Review
- Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.Clinical medicine. Pathology · 2008Article
- A comparison of the mutation spectra of Menkes disease and Wilson disease.Human genetics · 2004Article
- Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.Journal of bioenergetics and biomembranes · 2002Review
- Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.American journal of human genetics · 2000Article
- Fibroblast silver loading for the diagnosis of Menkes disease.Journal of medical genetics · 1998Article
- Menkes disease: underlying genetic defect and new diagnostic possibilities.Journal of inherited metabolic disease · 1998Review
- Article
- Sequence of a Menkes-type Cu-transporting ATPase from rat C6 glioma cells: comparison of the rat protein with other mammalian Cu-transporting ATPases.Molecular and cellular biochemistry · 1998Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genomic DNA of 41 unrelated patients affected with the classical severe form of Menkes disease was investigated for point mutations in the ATP7A gene (previously designated as the "MNK" gene). Using SSCP analysis and direct sequencing of the exons amplified by PCR, we identified 41 different mutations, including 19 insertions/deletions, 10 nonsense mutations, 4 missense mutations, and 8 splice-site alterations. Approximately 90% of the mutations were predicted to result in the truncation of the protein (ATP7A). In 20 patients the mutations were within exons 7-10, and half of these mutations affected exon 8. Furthermore, five alterations were observed within the 6-bp sequence at the splice-donor site of intron 8, which would be predicted to affect the efficiency of splicing of exon 8. Although a specific function has not been attributed to the protein region encoded by this exon, this region may be important in serving as a "stalk" joining the metal-binding domains and the ATPase core. The present findings not only help us in understanding the underlying genetic defect but are invaluable data especially for carrier detection and prenatal diagnosis of this lethal disorder.
Indexed as
Identifiers
8981948PMC1712537W1588057732What OpenQuestion holds
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.