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ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle

Biomedicines, 2021-04, Vol.9 (4), p.391

2021

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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

European journal of pediatrics, 2010-08, Vol.169 (8), p.941-949

2010

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Clinical expression of Menkes disease in females with normal karyotype

Orphanet journal of rare diseases, 2012-01, Vol.7 (1), p.6-6

2012

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Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

Human mutation, 2005-08, Vol.26 (2), p.84-93

2005

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Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time

Journal of inorganic biochemistry, 2019-01, Vol.190, p.98

2019

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Exon duplications in the ATP7A gene: frequency and transcriptional behaviour

Orphanet journal of rare diseases, 2011-11, Vol.6 (1), p.73-73, Article 73

2011

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Orchestration of dynamic copper navigation - new and missing pieces

Metallomics, 2017-09, Vol.9 (9), p.1204

2017

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Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

American journal of human genetics, 2000-04, Vol.66 (4), p.1211-1220

2000

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Chelating principles in Menkes and Wilson diseases

Journal of inorganic biochemistry, 2019-01, Vol.190, p.98-112

2019

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Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene

Gene, 2000-10, Vol.257 (1), p.13-22

2000

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Molecular diagnosis of Menkes disease: Genotype–phenotype correlation

Biochimie, 2009-10, Vol.91 (10), p.1273-1277

2009

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Clinical presentation and mutations in Danish patients with Wilson disease

European journal of human genetics : EJHG, 2011-09, Vol.19 (9), p.935-941

2011

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Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites

American journal of human genetics, 2006-08, Vol.79 (2), p.214-229

2006

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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

European journal of pediatrics, 2010-08, Vol.169 (8), p.941-949

2010

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Menkes Disease: An X-Linked Neurological Disorder of the Copper Metabolism

Brain pathology (Zurich, Switzerland), 1992-10, Vol.2 (4), p.351-362

1992

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Harriet's Dancing - What About You? Ein Bilderbuch regt zum Tanzen an

Grundschule Englisch, 2012, Vol.11 (1 (38)), p.26-29

Horn, Nina

2012

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COPPER INCORPORATION STUDIES ON CULTURED CELLS FOR PRENATAL DIAGNOSIS OF MENKES' DISEASE

The Lancet (British edition), 1976-05, Vol.307 (7970), p.1156-1158

Horn, Nina

1976

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Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A

Human mutation, 2003-12, Vol.22 (6), p.457-464

2003

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Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

Annals of neurology, 2001-10, Vol.50 (4), p.540-543

2001

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Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

Human molecular genetics, 2001-12, Vol.10 (26), p.3025-3035

2001

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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Nature genetics, 1993-01, Vol.3 (1), p.14-19

1993

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Menkes disease: recent advances and new aspects

Journal of medical genetics, 1997-04, Vol.34 (4), p.265-274

1997

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Welcome to Crazytown! Das eigene Traumhaus entwerfen, beschreiben und präsentieren

Grundschule Englisch, 2012, Vol.11 (4 (41)), p.22-25

2012

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Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.340-343

2005

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An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

European journal of human genetics : EJHG, 2001-10, Vol.9 (10), p.805-809

2001

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ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

Clinical expression of Menkes disease in females with normal karyotype

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A

Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time

Exon duplications in the ATP7A gene: frequency and transcriptional behaviour

Orchestration of dynamic copper navigation - new and missing pieces

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Chelating principles in Menkes and Wilson diseases

Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene

Molecular diagnosis of Menkes disease: Genotype–phenotype correlation

Clinical presentation and mutations in Danish patients with Wilson disease

Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

Menkes Disease: An X-Linked Neurological Disorder of the Copper Metabolism

Harriet's Dancing - What About You? Ein Bilderbuch regt zum Tanzen an

COPPER INCORPORATION STUDIES ON CULTURED CELLS FOR PRENATAL DIAGNOSIS OF MENKES' DISEASE

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Menkes disease: recent advances and new aspects

Welcome to Crazytown! Das eigene Traumhaus entwerfen, beschreiben und präsentieren

Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

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