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Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
Molecular diagnosis of Wilson disease
MOLECULAR GENETICS AND METABOLISM
Intragenic deletions at Atp7a in mouse models for Menkes disease
GENOMICS
FIC1 disease: A spectrum of intrahepatic cholestatic disorders
SEMINARS IN LIVER DISEASE
High prevalence of the H1069Q mutation in East German patients with Wilsondisease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis
JOURNAL OF HEPATOLOGY
The Wilson's disease gene and phenotypic diversity
JOURNAL OF HEPATOLOGY
The effect of aging on the mineral status of female SAMP1 and SAMR1
BIOLOGICAL TRACE ELEMENT RESEARCH
ATP7A gene mutations in 16 patients with Menkes disease and a patient withoccipital horn syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
Mg-dependent, Zn-ATPase: Enzymatic characteristics, ion specificities and tissue distribution
JOURNAL OF MEMBRANE BIOLOGY
Functional analysis of chimeric proteins of the Wilson Cu(I)-ATPase (ATP7B) and ZntA, a Pb(II)/Zn(II)/Cd(II)-ATPase from Escherichia coli
JOURNAL OF BIOLOGICAL CHEMISTRY
A possible regulatory role for the metal-binding domain of CadA, the Listeria monocytogenes Cd2+-ATPase
FEBS LETTERS
Solution structure of the Cu(I) and Apo forms of the yeast metallochaperone, Atx1
BIOCHEMISTRY
The cysteine-rich amino-terminal domain of ZntA, a Pb(II)/Zn(II)/Cd(II)-translocating ATPase from Escherichia coli, is not essential for its function
BIOCHEMISTRY
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease
ARCHIVES OF NEUROLOGY
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipitalhorn syndrome and not in Menkes disease
AMERICAN JOURNAL OF HUMAN GENETICS
Transcriptional slippage of p53 gene enhanced by cellular damage in rat liver: monitoring the slippage by a yeast functional assay
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations
GENETIC TESTING
Mutational analysis of ATP7B and genotype - Phenotype correlation in Japanese with Wilson's disease
HUMAN MUTATION
A strong loss-of-function mutation in RAN1 results in constitutive activation of the ethylene response pathway as well as a rosette-lethal phenotype
PLANT CELL
Cloning and expression of a novel human HCUTA cDNA
CHINESE SCIENCE BULLETIN
Identification and analysis of mutations of the Wilson disease gene in Chinese population
CHINESE MEDICAL JOURNAL
Wilson's disease
SEMINARS IN LIVER DISEASE
High prevalence of the very rare Wilson disease gene mutation Leu708Pro inthe Island of Gran Canaria (Canary islands, Spain): A genetic and clinicalstudy
HEPATOLOGY
Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
Copper transport and its defect in Wilson disease: characterization of thecopper-binding domain of Wilson disease ATPase
JOURNAL OF INORGANIC BIOCHEMISTRY
A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease
JOURNAL OF THE NEUROLOGICAL SCIENCES
Roles of the ccoGHIS gene products in the biogenesis of the cbb(3)-type cytochrome c oxidase
JOURNAL OF MOLECULAR BIOLOGY
The ATP hydrolytic activity of purified ZntA, a Pb(II)/Cd(II)/Zn(II)-translocating ATPase from Escherichia coli
JOURNAL OF BIOLOGICAL CHEMISTRY
Spontaneous porphyria of the Long-Evans Cinnamon rat: An animal model of Wilson's disease
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
The structure of the metal-binding motif GMTCAAC is similar in an 18-residue linear peptide and the mercury binding protein MerP
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
Wilson's disease and Menkes disease - Foreword
PEDIATRICS INTERNATIONAL
The Long-evans Cinnamon rat: An animal model for Wilson's disease
PEDIATRICS INTERNATIONAL
Molecular genetics and pathophysiology of Menkes disease
PEDIATRICS INTERNATIONAL
Wilson's disease
ITALIAN JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
Molecular characterization of Wilson disease in the Sardinian population -Evidence of a founder effect
HUMAN MUTATION
A study of Wilson disease mutations in Britain
HUMAN MUTATION
Crystal structure of the Atx1 metallochaperone protein at 1.02 angstrom resolution
STRUCTURE WITH FOLDING & DESIGN
Haplotype and mutation analysis in Mediterranean patients with Wilson disease
JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
A novel pineal night-specific ATPase encoded by the Wilson disease gene
JOURNAL OF NEUROSCIENCE
Metal binding and radical generation of proteins in human neurological diseases and aging
METAL IONS IN BIOLOGIAL SYSTEMS, VOL 36
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
JOURNAL OF MEDICAL GENETICS
Structure-function analyses of the ATX1 metallochaperone
JOURNAL OF BIOLOGICAL CHEMISTRY
Cu2+-ATPases: Sequence analyses and implications in the Wilson disease
JOURNAL OF THE CHINESE CHEMICAL SOCIETY
Treatment of Wilson and Menkes diseases
CHEMICAL REVIEWS
Molecular cloning of rat ATX1 homologue protein
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Cloning and characterization of the promoter region of the Wilson disease gene
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
ATP7B (WND) PROTEIN
International journal of biochemistry & cell biology
MUTATION ANALYSIS OF WILSON-DISEASE IN TAIWAN AND DESCRIPTION OF 6 NEW MUTATIONS
Human mutation
FURTHER DELINEATION OF THE MOLECULAR PATHOLOGY OF WILSON-DISEASE IN THE MEDITERRANEAN POPULATION
Human mutation
IDENTIFICATION OF 3 NOVEL MUTATIONS AND A HIGH-FREQUENCY OF THE ARG778LEU MUTATION IN KOREAN PATIENTS WITH WILSON-DISEASE
Human mutation
NOVEL ATP7B MUTATIONS CAUSING WILSON-DISEASE IN SEVERAL ISRAELI ETHNIC-GROUPS
Human mutation
MUTATIONS OF ATP7B GENE IN WILSON-DISEASE IN JAPAN - IDENTIFICATION OF 9 MUTATIONS AND LACK OF CLEAR FOUNDER EFFECT IN A JAPANESE POPULATION
Human mutation
HAPLOTYPE AND MUTATION ANALYSIS IN GREEK PATIENTS WITH WILSON-DISEASE
European journal of human genetics
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype
EUROPEAN JOURNAL OF HUMAN GENETICS
CONSTITUTIVE SKIPPING OF ALTERNATIVELY SPLICED EXON-10 IN THE ATP7A GENE ABOLISHES GOLGI LOCALIZATION OF THE MENKES PROTEIN AND PRODUCES THE OCCIPITAL HORN SYNDROME
Human molecular genetics
A C-terminal di-leucine is required for localization of the Menkes proteinin the trans-Golgi network
HUMAN MOLECULAR GENETICS
WILSON-DISEASE
Bailliere's clinical gastroenterology
GENETICS OF MENKES DISEASE
The Journal of trace elements in experimental medicine
WILSONS-DISEASE - UPDATE OF A SYSTEMIC DISORDER WITH PROTEAN MANIFESTATIONS
Gastroenterology clinics of North America
EARLY AND SEVERE NEUROLOGICAL FEATURES IN A WILSON-DISEASE PATIENT COMPOUND HETEROZYGOUS FOR 2 FRAMESHIFT MUTATIONS
European journal of pediatrics
INTRACELLULAR-DISTRIBUTION OF THE WILSONS-DISEASE GENE-PRODUCT (ATPASE7B) AFTER IN-VITRO AND IN-VIVO EXOGENOUS EXPRESSION IN HEPATOCYTES FROM THE LEC RAT, AN ANIMAL-MODEL OF WILSONS-DISEASE
Hepatology
MENKES-DISEASE - UNDERLYING GENETIC-DEFECT AND NEW DIAGNOSTIC POSSIBILITIES
Journal of inherited metabolic disease
LOCALIZATION OF THE WILSONS-DISEASE PROTEIN PRODUCT TO MITOCHONDRIA
Proceedings of the National Academy of Sciences of the United Statesof America
SUPEROXIDE-DISMUTASE AND NEUROFILAMENT TRANSGENIC MODELS OF AMYOTROPHIC-LATERAL-SCLEROSIS
The Journal of experimental zoology
RESTORATION OF HOLOCERULOPLASMIN SYNTHESIS IN LEC RAT AFTER INFUSION OF RECOMBINANT ADENOVIRUS BEARING WND CDNA
The Journal of biological chemistry
ANALYSIS OF FUNCTIONAL DOMAINS OF WILSON-DISEASE PROTEIN (ATP7B) IN SACCHAROMYCES-CEREVISIAE
FEBS letters
PHYSIOLOGICAL-FUNCTION OF THE WILSON-DISEASE GENE-PRODUCT, ATP7B
The American journal of clinical nutrition
MENKES-SYNDROME AND ANIMAL-MODELS
The American journal of clinical nutrition
HEREDITARY LIVER-DISEASES
Deutsche Medizinische Wochenschrift
DELETION OF THE PROMOTER REGION IN THE ATP7A GENE OF THE MOTTLED DAPPLED MOUSE
Nature genetics
OCCURRENCE OF 2 MISSENSE MUTATIONS IN CU-ATPASE OF THE MACULAR MOUSE,A MENKES DISEASE-MODEL
Biochemistry and molecular biology international
MOLECULAR-BASIS OF THE BRINDLED MOUSE MUTANT (MO-BR) - A MURINE MODELOF MENKES-DISEASE
Human molecular genetics
MUTATION ANALYSIS PROVIDES ADDITIONAL PROOF THAT MOTTLED IS THE MOUSEHOMOLOG OF MENKES DISEASE
Human molecular genetics
THE MOTTLED MOUSE AS A MODEL FOR HUMAN MENKES DISEASE - IDENTIFICATION OF MUTATIONS IN THE ATP7A GENE
Human molecular genetics
LEC RATS - AN OVERVIEW OF RECENT FINDINGS
The Journal of trace elements in experimental medicine
MOLECULAR APPROACHES TO INHERITED LIVER-DISEASE - FOCUS ON WILSON-DISEASE
Journal of gastroenterology and hepatology
IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN WILSONS-DISEASE GENE
Chinese medical journal
ADVANCES IN THE GENETICS OF MOVEMENT-DISORDERS - IMPLICATIONS FOR MOLECULAR DIAGNOSIS
Journal of neurology
THE EFFECT OF SILVER ADMINISTRATION ON THE BIOSYNTHESIS AND THE MOLECULAR-PROPERTIES OF RAT CERULOPLASMIN
Biochimica et biophysica acta (G). General subjects
POSITIONAL CLONING - A REVIEW AND PERSPECTIVE
Drug development research
EXPRESSION OF MENKES DISEASE GENE IN MAMMARY-CARCINOMA CELLS
Biochemical journal
METAL-ION CHAPERONE FUNCTION OF THE SOLUBLE CU(I) RECEPTOR ATX1
Science
MUTATION ANALYSIS AND EXPRESSION OF THE MOTTLED GENE IN THE MACULAR MOUSE MODEL OF MENKES DISEASE
Pediatric research
MENKES-DISEASE - RECENT ADVANCES AND NEW ASPECTS
Journal of Medical Genetics
A HOMOZYGOUS NONSENSE MUTATION AND A COMBINATION OF 2 MUTATIONS OF THE WILSON DISEASE GENE IN PATIENTS WITH DIFFERENT LYSYL OXIDASE ACTIVITIES IN CULTURED FIBROBLASTS
Journal of investigative dermatology
IDENTIFICATION AND FUNCTIONAL REQUIREMENT OF CU(I) AND ITS LIGANDS WITHIN COAGULATION-FACTOR-VIII
The Journal of biological chemistry
BIOCHEMICAL-CHARACTERIZATION OF THE WILSON DISEASE PROTEIN AND FUNCTIONAL EXPRESSION IN THE YEAST SACCHAROMYCES-CEREVISIAE
The Journal of biological chemistry
CAENORHABDITIS-ELEGANS CDNA FOR A MENKES WILSON-DISEASE GENE HOMOLOG AND ITS FUNCTION IN A YEAST CCC2 GENE DELETION MUTANT/
Journal of Biochemistry
IDENTIFICATION AND ANALYSIS OF MUTATIONS IN THE WILSON-DISEASE GENE (ATP7B) - POPULATION FREQUENCIES, GENOTYPE-PHENOTYPE CORRELATION, AND FUNCTIONAL ANALYSES
American journal of human genetics
A C2055T TRANSITION IN EXON-8 OF THE ATP7A GENE IS ASSOCIATED WITH EXON SKIPPING IN AN OCCIPITAL HORN SYNDROME FAMILY
American journal of human genetics
HAPLOTYPE AND MUTATION ANALYSIS IN JAPANESE PATIENTS WITH WILSON-DISEASE
American journal of human genetics
IDENTIFICATION OF POINT MUTATIONS IN 41 UNRELATED PATIENTS AFFECTED WITH MENKES-DISEASE
American journal of human genetics
CPX-TYPE ATPASES - A CLASS OF P-TYPE ATPASES THAT PUMP HEAVY-METALS
Trends in biochemical sciences
A REPEATED ELEMENT IN THE REGULATORY REGION OF THE MNK GENE AND ITS DELETION IN A PATIENT WITH OCCIPITAL HORN SYNDROME
Human molecular genetics
THE TOXIC MILK MOUSE IS A MURINE MODEL OF WILSON DISEASE
Human molecular genetics
MOLECULAR-BIOLOGY OF IRON ACQUISITION IN SACCHAROMYCES-CEREVISIAE
Molecular microbiology
THE USE OF COMPOUND HETEROZYGOTES AND HPRT SELECTION TO ANALYZE X-LINKED MOTTLED ALLELES ASSOCIATED WITH PRENATAL LETHALITY
Mammalian genome
EFFICIENT DETECTION OF MUTATIONS IN WILSON DISEASE BY MANIFOLD SEQUENCING
Genomics
GENOMIC ORGANIZATION OF THE MOTTLED GENE, THE MOUSE HOMOLOG OF THE HUMAN MENKES DISEASE GENE
Genomics
WILSON DISEASE MUTATIONS ASSOCIATED WITH UNCOMMON HAPLOTYPES IN MEDITERRANEAN PATIENTS
Human genetics