The Role of Copper in Neurodegenerative Disease

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1993 • 6,762 citations

Motor Neuron Degeneration in Mice that Express a Human Cu,Zn Superoxide Dismutase Mutation

1994 • 3,959 citations

SUPEROXIDE RADICAL AND SUPEROXIDE DISMUTASES

1995 • 3,305 citations

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

1993 • 1,905 citations

Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein

1992 • 1,632 citations

An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria

1995 • 1,424 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 cellular prion protein binds copper in vivo

1997 • 1,263 citations

Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

1996 • 1,261 citations

Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

1998 • 1,207 citations

Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

1999 • 1,068 citations

Dramatic Aggregation of Alzheimer Aβ by Cu(II) Is Induced by Conditions Representing Physiological Acidosis

1998 • 988 citations

Prion Diseases and the BSE Crisis

1997 • 952 citations

The cell biology of β-amyloid precursor protein and presenilin in Alzheimer's disease

1998 • 845 citations

The Copper Chaperone for Superoxide Dismutase

1997 • 828 citations

Evidence of Increased Oxidative Damage in Both Sporadic and Familial Amyotrophic Lateral Sclerosis

1997 • 792 citations

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

1993 • 720 citations

Altered Reactivity of Superoxide Dismutase in Familial Amyotrophic Lateral Sclerosis

1996 • 718 citations

Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis.

1995 • 694 citations

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

1993 • 690 citations

The FET3 gene of S. cerevisiae encodes a multicopper oxidase required for ferrous iron uptake

1994 • 659 citations

The Amyloid Precursor Protein of Alzheimer's Disease in the Reduction of Copper(II) to Copper(I)

1996 • 657 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

Slowing of axonal transport is a very early event in the toxicity of ALS–linked SOD1 mutants to motor neurons

1999 • 621 citations

Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity.

1994 • 604 citations

Copper Stimulates Endocytosis of the Prion Protein

1998 • 586 citations

MUTANT GENES IN FAMILIAL ALZHEIMER'S DISEASE AND TRANSGENIC MODELS

1998 • 576 citations

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

1995 • 550 citations

Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis

1997 • 517 citations

Prion Protein Selectively Binds Copper(II) Ions

1998 • 515 citations

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

1993 • 501 citations

Decreased Zinc Affinity of Amyotrophic Lateral Sclerosis‐Associated Superoxide Dismutase Mutants Leads to Enhanced Catalysis of Tyrosine Nitration by Peroxynitrite

1997 • 483 citations

A gain-of-function of an amyotrophic lateral sclerosis-associated Cu,Zn-superoxide dismutase mutant: An enhancement of free radical formation due to a decrease in Km for hydrogen peroxide.

1996 • 464 citations

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

1995 • 456 citations

The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake.

1995 • 431 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

Copper Binding to the N-Terminal Tandem Repeat Regions of Mammalian and Avian Prion Protein

1995 • 353 citations

The Molecular and Genetic Basis of Neurological Disease

1993 • 345 citations

Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells.

1995 • 334 citations

Reduced Fertility in Female Mice Lacking Copper-Zinc Superoxide Dismutase

1998 • 328 citations

Biochemical Characterization of the Wilson Disease Protein and Functional Expression in the Yeast Saccharomyces cerevisiae

1997 • 324 citations

A Novel Glycosylphosphatidylinositol-anchored Form of Ceruloplasmin Is Expressed by Mammalian Astrocytes

1997 • 318 citations

Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

1987 • 289 citations

Genetic and molecular basis for copper toxicity

1996 • 287 citations

Elevated free nitrotyrosine levels, but not protein-bound nitrotyrosine or hydroxyl radicals, throughout amyotrophic lateral sclerosis (ALS)-like disease implicate tyrosine nitration as an aberrant in vivo property of one familial ALS-linked superoxide dismutase 1 mutant

1997 • 287 citations

Ovarian Function in Superoxide Dismutase 1 and 2 Knockout Mice

1998 • 279 citations

Alterations in levels of iron, ferritin, and other trace metals in neurodegenerative diseases affecting the basal ganglia

1992 • 277 citations

Prion protein expression and superoxide dismutase activity

1998 • 269 citations

Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis

1998 • 249 citations

The Copper Chaperone CCS Directly Interacts with Copper/Zinc Superoxide Dismutase

1998 • 247 citations

The βA4 amyloid precursor protein binding to copper

1994 • 244 citations

Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a japanese family

1995 • 242 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

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation

1998 • 225 citations

Wilson's Disease

1989 • 221 citations

Caspase-1 is activated in neural cells and tissue with amyotrophic lateral sclerosis-associated mutations in copper-zinc superoxide dismutase

1998 • 218 citations

Ceruloplasmin gene expression in the murine central nervous system.

1996 • 193 citations

Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin.

1991 • 188 citations

The Copper Chelator d‐Penicillamine Delays Onset of Disease and Extends Survival in a Transgenic Mouse Model of Familial Amyotrophic Lateral Sclerosis

1997 • 179 citations

Mutations in copper-zinc superoxide dismutase that cause amyotrophic lateral sclerosis alter the zinc binding site and the redox behavior of the protein.

1996 • 178 citations

Enhanced oxygen radical production in a transgenic mouse model of familial amyotrophic lateral sclerosis

1998 • 164 citations

Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia

1996 • 163 citations

Chaperone-facilitated copper binding is a property common to several classes of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants

1998 • 161 citations

Expression, Purification, and Metal Binding Properties of the N-terminal Domain from the Wilson Disease Putative Copper-transporting ATPase (ATP7B)

1997 • 160 citations

Restriction of Copper Export in Saccharomyces cerevisiae to a Late Golgi or Post-Golgi Compartment in the Secretory Pathway

1997 • 160 citations

Functional Expression of the Menkes Disease Protein Reveals Common Biochemical Mechanisms Among the Copper-transporting P-type ATPases

1998 • 158 citations

Superoxide Dismutase 1 Subunits with Mutations Linked to Familial Amyotrophic Lateral Sclerosis Do Not Affect Wild-type Subunit Function

1995 • 149 citations

A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network

1998 • 148 citations

Metal‐dependent α‐helix formation promoted by the glycine‐rich octapeptide region of prion protein

1996 • 144 citations

Reversibility of Scrapie Inactivation Is Enhanced by Copper

1998 • 131 citations

Copper-Binding Amyloid Precursor Protein Undergoes a Site-Specific Fragmentation in the Reduction of Hydrogen Peroxide

1998 • 127 citations

The Copper Chaperone CCS Is Abundant in Neurons and Astrocytes in Human and Rodent Brain

1999 • 123 citations

Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.

1994 • 116 citations

Characterization of a Nonsense Mutation in the Ceruloplasmin Gene Resulting in Diabetes and Neurodegenerative Disease

1996 • 116 citations

Correction of the Copper Transport Defect of Menkes Patient Fibroblasts by Expression of the Menkes and Wilson ATPases

1998 • 114 citations

The psychiatric presentations of Wilson's disease

1991 • 111 citations

Hereditary ceruloplasmin deficiency with hemosiderosis

1996 • 97 citations

Molecular genetic basis of familial ALS

1996 • 97 citations

Wilson's Disease Presenting with Features of Hepatic Dysfunction: A Clinical Analysis of Eighty-seven Patients

1989 • 95 citations

A Novel Pineal Night-Specific ATPase Encoded by the Wilson Disease Gene

1999 • 94 citations

IV. Wilson’s disease and Menkes disease

1999 • 81 citations

The genetic and molecular mechanisms of motor neuron disease

1998 • 74 citations

Increased plasma lipid peroxidation in patients with aceruloplasminemia

1996 • 67 citations

Ran-2, a glial lineage marker, is a GPI-anchored form of ceruloplasmin

1998 • 60 citations

Molecular and Genetic Basis of Neurological Disease

1998 • 58 citations

Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus

1994 • 57 citations

Clinical and Histological Observations on Cuprizonc Toxicity and Scrapie in Mice

1971 • 55 citations

A Nonsense Mutation of the Ceruloplasmin Gene in Hereditary Ceruloplasmin Deficiency with Diabetes Mellitus

1995 • 50 citations

A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis

1998 • 50 citations

Familial dementia due to a frameshift mutation in the caeruloplasmin gene

1996 • 38 citations

A comparison of the biochemical changes induced in mouse brain by cuprizone toxicity and by scrapie infection

1974 • 31 citations

Early Magnetic Resonance Imaging Findings in Menkes' Disease

1997 • 27 citations

Early neuroradiologic evidence of degeneration in Menkes' disease

1997 • 22 citations

Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia

1998 • 20 citations

619 Reduction of copper(II) to copper(I) by the Amyloid Precursor Protein (APP) of Alzheimer's disease

1996 • 5 citations