Results 171 to 180 of about 5,775 (200)
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Polymorphisms of metal transporter genes DMT1 and ATP7A in Wilson's disease
Journal of Trace Elements in Medicine and Biology, 2014Wilson's disease (WND) is an inherited disorder of copper metabolism. Divalent metal transporter1 (DMT1) and ATP7A play important roles in metal transport in humans. The frequency of two single nucleotide polymorphisms of the DMT1 gene: DMT1 IVS4 C>A, DMT1 11245 T>C and two of the ATP7A gene: rs1062472 T>C, ATP7A rs 2227291 G>C have been evaluated in a
Adam, Przybyłkowski +2 more
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Report of a Novel ATP7A Mutation Causing Distal Motor Neuropathy
Neuromuscular Disorders, 2019We describe a novel ATP7A gene mutation associated with distal motor neuropathy, mild connective tissue abnormalities and autonomic disturbances. Next-generation sequencing analysis of a lower-motor neuron diseases gene panel was performed in two sibs presenting with distal motor neuropathy plus an autonomic dysfunction, which main manifestations were ...
Mert Karakaya +2 more
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Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease
1999Our knowledge about Menkes disease (MD) has expanded greatly since its description in 1962 as a new X-linked recessive neurodegenerative disorder of early infancy. Ten years later a defect in copper metabolism was established as the underlying biochemical deficiency.
Z, Tümer, L B, Møller, N, Horn
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A novel role for the ATP7A copper transporter in cancer
2021[ACCESS RESTRICTED TO THE UNIVERSITY OF MISSOURI AT AUTHOR'S REQUEST.] Copper is a trace metal with a ready capacity to gain or donate electrons. This property is harnessed by numerous enzymes to perform vital functions in the body. In humans, copper is required for various biochemical processes, including cellular respiration, connective tissue ...
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Mutational analysis of the Menkes copper P-type ATPase (ATP7A)
Biochemical and Biophysical Research Communications, 2003The Menkes protein (ATP7A; MNK) is a ubiquitous human copper-translocating P-type ATPase and it has a key role in regulating copper homeostasis. Previously we characterised fundamental steps in the catalytic cycle of the Menkes protein. In this study we analysed the role of several conserved regions of the Menkes protein, particularly within the ...
I, Voskoboinik, J, Mar, J, Camakaris
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Expression in Mouse Kidney of Membrane Copper Transporters Atp7a and Atp7b
Nephron, 2002Copper is essential for activity of many enzymes, but is toxic in excess. Several copper proteins are required for copper homeostasis. <i>ATP7A</i> and <i>ATP7B</i> are genes encoding membrane copper transporters. <i>ATP7A</i>, defective in Menkes disease (MNK), is expressed in many tissues involved primarily in ...
Steven D P, Moore, Diane W, Cox
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Targeting ATP7A to Increase the Sensitivity of Neuroblastoma Cells to Retinoid Therapy
Current Cancer Drug Targets, 2011Following the discovery that defective retinoid signaling directly contributes to tumorigenesis, and, that retinoids have an anti-cancer effect in vitro and in vivo, retinoids have become part of the routine care in children with neuroblastoma at the stage of minimal residual disease.
B B, Cheung, G M, Marshall
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Twenty-five novel mutations including duplications in the ATP7A gene
Clinical Genetics, 2011Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childhood, whereas OHS has a milder ...
Moizard MP +14 more
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A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease
Molecular Genetics and Metabolism, 2013We present a case of classical Menkes disease (MD) due to a novel "silent" substitution in the ATP7A gene; c.2781G>A (p.K927K). The affected nucleotide is the last nucleotide in exon 13, and affects mRNA splicing. Transcripts missing exon 13; and transcripts missing exons 11, 12 and 13 in addition to a very small amount of normal spliced ATP7A ...
Lisbeth Birk, Møller +6 more
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Small amounts of functional ATP7A protein permit mild phenotype
Journal of Trace Elements in Medicine and Biology, 2015Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy. These disorders are mainly seen in male individuals, but a few affected females have been described. More than 400 different mutations have been identified in the ATP7A gene.
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