Familial amyotrophic lateral sclerosis and Cu/Zn superoxide dismutase mutation

Superoxide Dismutase

1969 • 12,578 citations

Apparent hydroxyl radical production by peroxynitrite: implications for endothelial injury from nitric oxide and superoxide.

1990 • 7,068 citations

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

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

1995 • 1,424 citations

ALS-Linked SOD1 Mutant G85R Mediates Damage to Astrocytes and Promotes Rapidly Progressive Disease with SOD1-Containing Inclusions

1997 • 1,313 citations

Superoxide Dismutase

1973 • 887 citations

Pathogenic effects of advanced glycosylation: biochemical, biologic, and clinical implications for diabetes and aging.

1994 • 863 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

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

1994 • 604 citations

Superoxide Dismutases

1986 • 450 citations

Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu,Zn SOD, and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS)

1995 • 435 citations

Superoxide dismutase in extracellular fluids

1982 • 434 citations

Ubiquitin-Mediated Pathways for Intracellular Proteolysis

1987 • 409 citations

Familial adult motor neuron disease: amyotrophic lateralsclerosis

1986 • 401 citations

Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis.

1994 • 397 citations

The maillard reaction in aging, diabetes and nutrition

1990 • 376 citations

Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus Heterogeneity

1991 • 373 citations

Proximal axonal enlargement in motor neuron disease

1968 • 359 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

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

1995 • 318 citations

Fine Structural Study of Neurofibrillary Changes in a Family with Amyotrophic Lateral Sclerosis

1984 • 300 citations

Chronic inhibition of superoxide dismutase produces apoptotic death of spinal neurons.

1994 • 291 citations

Intense Superoxide Dismutase-1 Immunoreactivity in Intracytoplasmic Hyaline Inclusions of Familial Amyotrophic Lateral Sclerosis with Posterior Column Involvement

1996 • 289 citations

Glycation and inactivation of human Cu-Zn-superoxide dismutase. Identification of the in vitro glycated sites.

1987 • 272 citations

Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase.

1985 • 251 citations

Isolation and sequence of complementary DNA encoding human extracellular superoxide dismutase.

1987 • 239 citations

Familial Amyotrophic Lateral Sclerosis

1967 • 235 citations

Site-specific and random fragmentation of Cu,Zn-superoxide dismutase by glycation reaction. Implication of reactive oxygen species.

1992 • 227 citations

The Golgi apparatus of spinal cord motor neurons in transgenic mice expressing mutant Cu,Zn superoxide dismutase becomes fragmented in early, preclinical stages of the disease.

1996 • 224 citations

Identification of oxidized histidine generated at the active site of Cu,Zn-superoxide dismutase exposed to H2O2. Selective generation of 2-oxo-histidine at the histidine 118.

1994 • 214 citations

Intracellular localization of the copper-zinc and manganese superoxide dismutases in rat liver parenchymal cells.

1986 • 195 citations

Prognosis in Familial Amyotrophic Lateral Sclerosis

1997 • 190 citations

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

1995 • 149 citations

superoxide dismutase-like immunoreactivity in Lewy body-like inclusions of sporadic amyotrophic lateral sclerosis

1994 • 149 citations

Fragmentation of the Golgi apparatus of motor neurons in amyotrophic lateral sclerosis.

1992 • 146 citations

Report of the committee on the genetic constitution of chromosome 6

1984 • 140 citations

The primary structure of human liver manganese superoxide dismutase.

1984 • 139 citations

Attachment of CuZn-Superoxide Dismutase to Thylakoid Membranes at the Site of Superoxide Generation (PSI) in Spinach Chloroplasts: Detection by Immuno-Gold Labeling After Rapid Freezing and Substitution Method

1995 • 133 citations

Evidence that all newly synthesized proteins destined for fast axonal transport pass through the Golgi apparatus.

1982 • 131 citations

Neuropathology of ALS

1996 • 122 citations

Immunohistochemical Study on Superoxide Dismutases in Spinal Cords from Autopsied Patients with Amyotrophic Lateral Sclerosis

1996 • 121 citations

Role of SOD-1 and nitric oxide/cyclic GMP cascade on neurofilament aggregation in ALS/MND

1996 • 118 citations

Familial Amyotrophic Lateral Sclerosis with a Two Base Pair Deletion in Superoxide Dismutase 1 Gene: Multisystem Degeneration with Intracytoplasmic Hyaline Inclusions in Astrocytes

1996 • 116 citations

Subunit-destabilizing mutations in Drosophila copper/zinc superoxide dismutase: neuropathology and a model of dimer dysequilibrium.

1995 • 107 citations

Immunocytochemical localization of catalase in the central nervous system of the rat.

1995 • 104 citations

Characterization of three yeast copper-zinc superoxide dismutase mutants analogous to those coded for in familial amyotrophic lateral sclerosis.

1994 • 98 citations

Selective induction of manganous superoxide dismutase in human monocytes

1985 • 88 citations

Hereditary Amyotrophic Lateral Sclerosis

1972 • 88 citations

Subunit Structure of Human Superoxide Dismutase

1972 • 87 citations

A Novel Mutation in Cu/Zn Superoxide Dismutase Gene in Japanese Familial Amyotrophic Lateral Sclerosis

1994 • 84 citations

The complete amino acid sequence of human Cu/Zn superoxide dismutase

1980 • 84 citations

Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis

1989 • 84 citations

Immunocytochemical and ultrastructural study of Lewy body-like hyaline inclusions in familial amyotrophic lateral sclerosis

1989 • 82 citations

Impaired copper binding by the H46R mutant of human Cu,Zn superoxide dismutase, involved in amyotrophic lateral sclerosis

1994 • 77 citations

Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis

1994 • 77 citations

A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis.

1994 • 66 citations

Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene

1994 • 63 citations

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

1995 • 58 citations

Purification and immunoelectron microscopic localization of cellular glutathione peroxidase in rat hepatocytes: quantitative analysis by postembedding method

1994 • 58 citations

IMMUNOHISTOCHEMICAL DEMONSTRATION OF Cu/Zn SUPEROXIDE DISMUTASE IN THE SPINAL CORD OF PATIENTS WITH FAMILIAL AMYOTRO-PHIC LATERAL SCLEROSIS

1993 • 51 citations

Regional localization of human extracellular superoxide dismutase gene to 4pter-q21

1990 • 44 citations

Asymmetric involvement of the spinal cord involving both large and small anterior horn cells in a case of familial amyotrophic lateral sclerosis.

1987 • 37 citations

Inhibitory Effect of Nonenzymatic Glycation on Ubiquitination and Ubiquitin-Mediated Degradation of Lysozyme

1993 • 32 citations

An update on superoxide dismutase 1 in familial amyotrophic lateral sclerosis

1996 • 21 citations

Report of the committee on the genetic constitution of chromosome 6

1978 • 19 citations

[Familial amyotrophic lateral sclerosis with or without mutation of the Cu/Zn superoxide dismutase gene].

1995 • 10 citations

PRESENCE OF SUPEROXIDE DISMUTASE-1 (SOD1) IMMUNOREACTIVITY IN HYALINE INCLUSION BODIES OF THE SPINAL CORD NEURONS OF TRANSGENIC MICE FOR MUTANT SOD1 GENE

1996 • 4 citations