|
Hereditary Coproporphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we explored mitochondrial energetics in peripheral blood mononuclear cells [PBMCs] and platelets in persons with AIP and hereditary coproporphyria [HCP].
|
31153822 |
2019 |
|
Hereditary Coproporphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
These diseases are caused by a deficiency of coproporphyrinogen oxidase (CPOX) in HCP, and protoporphyrinogen oxidase (PPOX) in VP.
|
30476629 |
2019 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp).
|
29660996 |
2018 |
|
Hereditary Coproporphyria
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen.
|
28600349 |
2017 |
|
Hereditary Coproporphyria
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Hereditary Coproporphyria
|
1.000 |
Biomarker
|
disease |
MGD |
Hereditary cataract of the Nakano mouse: Involvement of a hypomorphic mutation in the coproporphyrinogen oxidase gene.
|
23631845 |
2013 |
|
Hereditary Coproporphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The monomer form of mutated CPOX did not show any activity and homodimeric enzymes derived from HCP mutant showed low activity (<20% of the control).
|
24078084 |
2013 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defects in the coproporphyrinogen oxidase (CPOX) enzyme result in the autosomal dominant hereditary coproporphyria.
|
23582006 |
2013 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.
|
21231929 |
2012 |
|
Hereditary Coproporphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Hereditary coproporphyria (HCP) is an autosomal dominant acute hepatic porphyria due to the half-normal activity of the heme biosynthetic enzyme, coproporphyrinogen oxidase (CPOX).
|
21103937 |
2011 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.
|
16398658 |
2006 |
|
Hereditary Coproporphyria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Together, these findings resolve several questions regarding CPO catalysis and provide insights into hereditary coproporphyria.
|
16176984 |
2005 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Together, these findings resolve several questions regarding CPO catalysis and provide insights into hereditary coproporphyria.
|
16176984 |
2005 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain.
|
15896662 |
2005 |
|
Hereditary Coproporphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
For HC, the CPO mRNA determinations strongly suggest that normal CPO alleles with low-expression are present, but whether this low-expression of the wild-type allele could modulate the penetrance of a CPO gene defect in HC families remains to be ascertained.
|
14669009 |
2004 |
|
Hereditary Coproporphyria
|
1.000 |
Biomarker
|
disease |
CTD_human |
The hereditary coproporphyria is caused by a new mutation in the coproporphyrinogen oxidase gene in the case of a dual porphyria with co-existence of porphyria cutanea tarda and hereditary coproporphyria.
|
11831056 |
2002 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No Italian patients with defects in coproporphyrinogen oxidise (CPOX) gene, responsible for hereditary coproporphyria (HCP), have been detected.
|
12699245 |
2002 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This enzyme catalyzes the sixth step of the heme biosynthetic pathway, and mutations in the CPO gene have been coupled to HCP.
|
12181641 |
2002 |
|
Hereditary Coproporphyria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Her mother and both sisters could be verified as heterozygous gene carriers of hereditary coproporphyria by their urinary and fecal excretion parameters and because of reduced coproporphyrinogen oxidase activity up to 50%.
|
11929047 |
2002 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This enzyme catalyzes the sixth step of the heme biosynthetic pathway, and mutations in the CPO gene have been coupled to HCP.
|
12181641 |
2002 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings add substantially to knowledge of the molecular epidemiology of HCP, show that single copies of CPO mutations that are known or predicted to cause "homozygous" HCP or harderoporphyria can produce typical HCP in adults, and demonstrate that the severity of the phenotype does not correlate with the degree of inactivation by mutation of coproporphyrinogen oxidase.
|
11309681 |
2001 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria.
|
11202054 |
2000 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.
|
9888388 |
1999 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.
|
9888388 |
1999 |
|
Hereditary Coproporphyria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene.
|
9843038 |
1998 |