Research graph
References from ATP7A Clinical Genetics Resource – A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene. Local targets link to admitted publications; unresolved targets remain external evidence.
Biochemical, metabolic, and clinical role of copper in human nutrition
10.1080/07315724.1985.10720069 · 1985 · External reference
ATP7A-related copper transport diseasesg-emerging concepts and future trends
2011 · External reference
Expression of copper-related genes in response to copper load
10.1093/ajcn/88.3.830s · 2008 · External reference
Copper transport and its alterations in Menkes and Wilson diseases
10.1016/s0925-4439(96)00064-6 · 1997 · External reference
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation
10.1186/1471-2431-12-150 · 2012 · External reference
Molecular pathogenesis of Wilson and Menkes disease: Correlation of mutations with molecular defects and disease phenotypes
2007 · External reference
Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome: two new cases and review of the literature
10.3390/genes10070528 · 2019 · External reference
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
10.1016/j.ajhg.2010.01.027 · 2010 · External reference
VariantValidator: accurate validation, mapping, and formatting of sequence variation descriptions
10.1002/humu.23348 · 2018 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology
10.1038/gim.2015.30 · 2015 · External reference
The FoldX web server: an online force field
10.1093/nar/gki387 · 2005 · External reference
Integrated modeling program, applied chemical theory (IMPACT)
2005 · External reference
OPLS3: a force field providing broad coverage of drug-like small molecules and proteins
10.1021/acs.jctc.5b00864 · 2016 · External reference
Medicinal chemistry and the molecular operating environment (MOE): application of QSAR and molecular docking to drug discovery
2008 · External reference
CUPSAT: prediction of protein stability upon point mutations
10.1093/nar/gkl190 · 2006 · External reference
MCSM: predicting the effects of mutations in proteins using graph-based signatures
2014 · External reference
SDM – A server for predicting effects of mutations on protein stability and malfunction
2011 · External reference
I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure
10.1093/nar/gki375 · 2005 · External reference
PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality
10.1186/1471-2105-12-151 · 2011 · External reference
An atomic-level investigation of the disease-causing A629P mutant of the menkes protein, ATP7A
2005 · External reference
Solution structures of the actuator domain of ATP7A and ATP7B, the menkes and wilson disease proteins
2009 · External reference
The binding mode of ATP revealed by the solution structure of the N-domain of human ATP7A
2010 · External reference
Features and development of Coot
10.1107/s0907444910007493 · 2010 · External reference
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R
2008 · External reference
Mutation detection in the menkes gene ATP7A using the protein truncation test
2008 · External reference
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression
2012 · External reference
Increased frequency of congenital heart defects in Menkes disease
2012 · External reference
Unresolved reference
External reference
Menkes disease presenting with epilepsia partialis continua
2014 · External reference
Phenotypic convergence of menkes and wilson disease
10.1212/nxg.0000000000000119 · 2016 · External reference
In vivo modeling of the pathogenic effect of copper transporter mutations that cause Menkes and Wilson diseases, motor neuropathy, and susceptibility to Alzheimer’s disease
10.1074/jbc.m116.756163 · 2017 · External reference
Genetic heterogeneity of motor neuropathies
10.1212/wnl.0000000000003772 · 2017 · External reference
Novel ATP7A gene mutation in a patient with Menkes disease
10.2147/tacg.s180087 · 2018 · External reference
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
10.1186/s13073-019-0658-2 · 2019 · External reference
Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD)
2001 · External reference
Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography
10.1111/j.1442-200x.2004.02012.x · 2005 · External reference
Crystal structure of a copper-transporting PIB-type ATPase
10.1038/nature10191 · 2011 · External reference
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease
2013 · External reference
Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk
2014 · External reference
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease
2017 · External reference
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families
10.1007/s11011-017-0010-8 · 2017 · External reference
Molecular diagnostics of copper-transporting protein mutations allows early onset individual therapy of menkes disease
2017 · External reference
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
10.1007/s100380050144 · 1999 · External reference
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
10.1007/s100380070024 · 2000 · External reference
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome
10.1002/1096-8628(2001)9999:9999<::aid-ajmg1167>3.0.co;2-r · 2001 · External reference
Identification of four novel mutations in classical menkes disease and successful prenatal DNA diagnosis
2001 · External reference
Transient temporal lobe changes and a novel mutation in a patient with Menkes disease
10.1046/j.1442-200x.2001.01402.x · 2001 · External reference
A conditional mutation affecting localization of the Menkes disease copper ATPase: Suppression by copper supplementation
2002 · External reference
Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
10.1016/s0387-7604(02)00093-1 · 2002 · External reference
X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion
2002 · External reference
Screening of 383 unrelated patients affected with menkes disease and Finding of 57 gross deletions in ATP7A
2003 · External reference
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A
2005 · External reference
Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease
10.1016/j.jtemb.2012.05.002 · 2012 · External reference
Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein
2007 · External reference
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
10.1136/jmg.2007.050013 · 2007 · External reference
Neonatal diagnosis and treatment of Menkes disease
2008 · External reference
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
2010 · External reference
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain
10.1002/ajmg.a.33632 · 2010 · External reference
Twenty-five novel mutations including duplications in the ATP7A gene
10.1111/j.1399-0004.2010.01461.x · 2011 · External reference
Carrier testing for severe childhood recessive diseases by next-generation sequencing
2011 · External reference
Splice site mutations in the ATP7A gene
10.1371/journal.pone.0018599 · 2011 · External reference
10.3346/jkms.2011.26.7.951
10.3346/jkms.2011.26.7.951 · External reference
Menkes disease and infantile epilepsy
10.1016/j.braindev.2011.08.002 · 2011 · External reference
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy
2012 · External reference
Clinical expression of Menkes disease in females with normal karyotype
2012 · External reference
Congenital abnormalities in Japanese patients with Menkes disease
10.1016/j.braindev.2012.01.012 · 2012 · External reference
An Overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome
2013 · External reference
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype
2015 · External reference
Menkes disease in affected females: the clinical disease spectrum
10.1002/ajmg.a.36853 · 2015 · External reference
A 37-year-old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial treatment
2017 · External reference
10.2147/tacg.s180087
10.2147/tacg.s180087 · External reference
Diverse mutations in patients with Menkes disease often lead to exon skipping
1994 · External reference
Identification of point mutations in 41 unrelated patients affected with Menkes disease
1997 · External reference
A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse
1997 · External reference
Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease
10.1203/00006450-199710000-00003 · 1997 · External reference
Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model
1997 · External reference
Lethal neonatal Menkes’ disease with severe vasculopathy and fractures
10.1111/j.1651-2227.1998.tb00955.x · 1998 · External reference
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease
10.1038/s41598-017-00618-6 · 2017 · External reference
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients
2014 · External reference
Next-generation sequencing in X-linked intellectual disability
10.1038/ejhg.2015.5 · 2015 · External reference
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease
2007 · External reference
Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients
10.2133/dmpk.24.565 · 2009 · External reference
A truncating de novo point mutation in a young infant with severe menkes disease
10.1016/j.pedneo.2014.05.008 · 2017 · External reference
