相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Congenital abnormalities in Japanese patients with Menkes disease
Yan-Hong Gu et al.
BRAIN & DEVELOPMENT (2012)
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression
Willianne I. M. Vonk et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2012)
Clinical expression of Menkes disease in females with normal karyotype
Lisbeth Birk Moller et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
P-Type ATPases
Michael G. Palmgren et al.
ANNUAL REVIEW OF BIOPHYSICS, VOL 40 (2011)
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease
V. Desai et al.
CLINICAL GENETICS (2011)
Clinical utility gene card for: Menkes disease
Zeynep Tuemer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease
Yong Hyuk Kim et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2011)
Crystal structure of a copper-transporting PIB-type ATPase
Pontus Gourdon et al.
NATURE (2011)
Splice Site Mutations in the ATP7A Gene
Tina Skjorringe et al.
PLOS ONE (2011)
Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
Marina L. Kennerson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus-Mediated Copper Transport to the Developing Brain
Anthony Donsante et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Clinical expression of Menkes syndrome in females
A.-M. Gerdes et al.
CLINICAL GENETICS (2010)
X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization
James Beck et al.
CLINICAL GENETICS (2010)
Menkes disease
Zeynep Tumer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
Stephen G. Kaler et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease
Maksim Kouza et al.
PHYSICAL CHEMISTRY CHEMICAL PHYSICS (2010)
Translational Read-through of a Nonsense Mutation in ATP7A Impacts Treatment Outcome in Menkes Disease
Stephen G. Kaler et al.
ANNALS OF NEUROLOGY (2009)
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Patrick S. Tarpey et al.
NATURE GENETICS (2009)
Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease
Pietro Sirleto et al.
PEDIATRIC RESEARCH (2009)
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R
Jingrong Tang et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Neonatal diagnosis and treatment of Menkes disease
Stephen G. Kaler et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
In vivo correction of a Menkes disease model using antisense oligonucleotides
Erik C. Madsen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Zebrafish Mutants calamity and catastrophe Define Critical Pathways of Gene-Nutrient Interactions in Developmental Copper Metabolism
Erik C. Madsen et al.
PLOS GENETICS (2008)
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
P. de Bie et al.
JOURNAL OF MEDICAL GENETICS (2007)
Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein
Byung-Eun Kim et al.
JOURNAL OF MEDICAL GENETICS (2007)
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
Anthony Donsante et al.
JOURNAL OF MEDICAL GENETICS (2007)
Biochemical basis of regulation of human copper-transporting ATPases
Svetlana Lutsenko et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2007)
The first reported case of Menkes disease caused by an Alu insertion mutation
YanHong Gu et al.
BRAIN & DEVELOPMENT (2007)
Functional copper transport explains neurologic sparing in Occipital Horn syndrome
Jingrong Tang et al.
GENETICS IN MEDICINE (2006)
Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites
Marianne Paulsen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Atp7a determines a hierarchy of copper metabolism essential for notochord development
Bryce A. Mendelsohn et al.
CELL METABOLISM (2006)
Copper concentration of liver tissue under long-term copper-histidine therapy in a patient with Menkes disease
T. Kroepfl et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Activation of superoxide dismutases: Putting the metal to the pedal
Valeria Cizewski Culotta et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2006)
Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?
JL Olivares et al.
CLINICAL GENETICS (2006)
Correction of a mouse model of Menkes disease by the human Menkes gene
RM Llanos et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2006)
Phenotypic and genetic characterization of the Atp7aMo-Tohm mottled mouse:: A new murine model of Menkes disease
Y Mototani et al.
GENOMICS (2006)
Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease
H Kodama et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: Unusual manifestations of Menkes disease
DK Grange et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A
L Banci et al.
JOURNAL OF MOLECULAR BIOLOGY (2005)
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations
SR Sheela et al.
CLINICAL GENETICS (2005)
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A
LB Moller et al.
HUMAN MUTATION (2005)
A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis
Y Gu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography
A Watanabe et al.
PEDIATRICS INTERNATIONAL (2005)
Early development of occipital horns in a classical Menkes patient
M Gérard-Blanluet et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
X-linked Menkes disease:: First documented report of germ-line mosaicism
L Poulsen et al.
GENETIC TESTING (2004)
Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family
B Borm et al.
JOURNAL OF PEDIATRICS (2004)
A mutational study in the transmembrane domain of Ccc2p, the yeast Cu(I)-ATPase, shows different roles for each Cys-Pro-Cys cysteine
J Lowe et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Supplying copper to the cuproenzyme peptidylglycine α-amidating monooxygenase
R El Meskini et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase
BE Kim et al.
JOURNAL OF MEDICAL GENETICS (2003)
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A
Z Tumer et al.
HUMAN MUTATION (2003)
X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion
L Poulsen et al.
CLINICAL GENETICS (2002)
X-linked recessive Menkes disease:: identification of partial gene deletions in affected males
L Poulsen et al.
CLINICAL GENETICS (2002)
Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate
MJ Petris et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
YH Gu et al.
BRAIN & DEVELOPMENT (2002)
Menkes gene study in the Chinese population
BSC Mak et al.
JOURNAL OF CHILD NEUROLOGY (2002)
Transient temporal lobe changes and a novel mutation in a patient with Menkes disease
H Ozawa et al.
PEDIATRICS INTERNATIONAL (2001)
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease
SL Dagenais et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Structure-function analysis of purified Enterococcus hirae CopB copper ATPase:: effect of Menkes/Wilson disease mutation homologues
KD Bissig et al.
BIOCHEMICAL JOURNAL (2001)
Nomenclature for the description of human sequence variations
JT den Dunnen et al.
HUMAN GENETICS (2001)
Intragenic deletions at Atp7a in mouse models for Menkes disease
P Cunliffe et al.
GENOMICS (2001)
Identification of four novel mutations in classical menkes disease and successful prenatal DNA diagnosis
S Hahn et al.
MOLECULAR GENETICS AND METABOLISM (2001)
Menkes disease after copper histidine replacement therapy: Case report
DH George et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2001)
The Menkes copper transporter is required for the activation of tyrosinase
MJ Petris et al.
HUMAN MOLECULAR GENETICS (2000)
Similar splice-site mutations of the ATP7A gene lead to different phenotypes:: Classical Menkes disease or occipital horn syndrome
LB Moller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
A Ogawa et al.
JOURNAL OF HUMAN GENETICS (2000)
分享论文
