Mutation Spectrum of ATP7A, the Gene Defective in Menkes Disease

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

1993 • 1,905 citations

Genetic variants and strains of the laboratory mouse

1990 • 1,519 citations

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

1993 • 1,395 citations

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

1993 • 1,345 citations

The metabolic basis of inherited disease

1995 • 1,007 citations

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.

1962 • 839 citations

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

1993 • 720 citations

Isolation of a partial candidate gene for Menkes disease by positional cloning

1993 • 690 citations

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.

1996 • 623 citations

The Wilson disease gene: spectrum of mutations and their consequences

1995 • 563 citations

Isolation and Characterization of a Human Liver cDNA as a Candidate Gene for Wilson Disease

1993 • 501 citations

MENKES' KINKY-HAIR SYNDROME

1972 • 418 citations

Catalog Of Mutant Genes And Polymorphic Loci

1996 • 404 citations

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene

1994 • 382 citations

Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae

1993 • 379 citations

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

1994 • 355 citations

Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

1997 • 351 citations

Genetic Variants and Strains of the Laboratory Mouse

1990 • 327 citations

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1994 • 259 citations

N-terminal Domains of Human Copper-transporting Adenosine Triphosphatases (the Wilson's and Menkes Disease Proteins) Bind Copper Selectively in Vivo and in Vitro with Stoichiometry of One Copper Per Metal-binding Repeat

1997 • 237 citations

Disorders of copper transport

1995 • 195 citations

The toxic milk mouse is a murine model of Wilson disease

1996 • 178 citations

Sequence, mapping and disruption of CCC2, a gene that cross‐complements the Ca²⁺‐sensitive phenotype of csg1 mutants and encodes a P‐type ATPase belonging to the Cu²⁺‐ATPase subfamily

1995 • 166 citations

Haplotype and Mutation Analysis in Japanese Patients with Wilson Disease

1997 • 145 citations

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

1995 • 136 citations

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

1995 • 132 citations

The mottled gene is the mouse homologue of the Menkes disease gene

1994 • 125 citations

Diverse mutations in patients with Menkes disease often lead to exon skipping.

1994 • 123 citations

Immunocytochemical Localization of the Menkes Copper Transport Protein (ATP7A) to the Trans-Golgi Network

1997 • 120 citations

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

1994 • 119 citations

P-type ATPase from the cyanobacterium Synechococcus 7942 related to the human Menkes and Wilson disease gene products.

1994 • 109 citations

Efficient Detection of Mutations in Wilson Disease by Manifold Sequencing

1996 • 103 citations

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

1997 • 100 citations

Decreased lysyl oxidase activity in the aneurysm-prone, mottled mouse.

1977 • 98 citations

Molecular Structure of the Menkes Disease Gene (ATP7A)

1995 • 95 citations

Menkes syndrome in a girl with X‐autosome translocation

1987 • 95 citations

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

1997 • 92 citations

Haplotypes and mutations in Wilson disease.

1995 • 90 citations

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1995 • 90 citations

Mutation Analysis and Expression of the Mottled Gene in the Macular Mouse Model of Menkes Disease

1997 • 88 citations

High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

1996 • 77 citations

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

1995 • 76 citations

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2

1992 • 64 citations

Successful Early Copper Therapy in Menkes Disease Associated with a Mutant Transcript Containing a Small In-Frame Deletion

1996 • 63 citations

Mutation Analysis Provides Additional Proof That Mottled is the Mouse Homologue of Menkes' Disease

1997 • 60 citations

H714Q mutation in Wilson disease is associated with late, neurological presentation.

1995 • 54 citations

Genetic response to metals.

1995 • 54 citations

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome

1996 • 52 citations

Wilson disease in Iceland: a clinical and genetic study.

1995 • 50 citations

Wilson disease mutations associated with uncommon haplotypes in mediterranean patients

1996 • 50 citations

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

1994 • 35 citations

A Novel RNA Splicing Mutation in Japanese Patients with Wilson Disease

1995 • 32 citations

X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization

1994 • 32 citations

Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease

1992 • 31 citations

Genomic Organization of the Mottled Gene, the Mouse Homologue of the Human Menkes Disease Gene

1996 • 27 citations

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse

1997 • 24 citations

Analysis of Mnk, the Murine Homologue of the Locus for Menkes Disease, in Normal and Mottled (Mo) Mice

1994 • 22 citations

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis

1994 • 18 citations

24 bp deletion and Ala1278 to val mutation of the ATP7B gene in a Sardinian family with Wilson disease

1997 • 12 citations

Occurrence of two missense mutations in Cu‐ATPase of the macular mouse, a menkes disease model

1997 • 11 citations

Two highly polymorphic CA repeats in the Menkes gene (ATP7A)

1995 • 10 citations

The rat homologue of the Wilson's disease gene was partially deleted at the 3' end of its protein-coding region in Long-Evans Cinnamon mutant rats.

1995 • 9 citations

Deletion of the Wilson's disease gene in hereditary hepatitis LEC rats.

1995 • 7 citations