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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
TLDR
Tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O–2 to O2 and H2O2 is reported.
A Drosophila gene encoding a protein resembling the human beta-amyloid protein precursor.
TLDR
A Drosophila gene resembling the human beta-amyloid precursor protein (APP) produces a nervous system-enriched 6.5-kilobase transcript, which contains a putative transmembrane domain and exhibits strong sequence similarity to cytoplasmic and extracellular regions of the human Beta-ameloid precursorprotein.
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
TLDR
A comparison of amino-acid sequences for exon 2 of SOD-1 is shown, but incorrectly positions the residue numbers and the mutations on the sequences.
vnd, a gene required for early neurogenesis of Drosophila, encodes a homeodomain protein.
TLDR
The identification of a transcript associated with the vnd locus, the transcript distribution in embryogenesis, which is compatible with the nervous system mutant phenotypes described for this gene, and that the protein product is a member of the NK‐2 homeodomain family are reported.
Molecular analysis of the locus elav in Drosophila melanogaster: a gene whose embryonic expression is neural specific.
TLDR
In situ hybridization experiments clearly demonstrate that the embryonic expression of elav is restricted to the nervous system.
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
TLDR
Assays of SOD1 enzymatic activity in extracts from red blood cells, lymphoblastoid cells, and brain tissues revealed an approximately 50% reduction in activity of cytosolic S OD1 in patients with this mutation compared to normal individuals.
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
TLDR
It is concluded that the L345P desmin missense mutation causes myopathy by interfering in a dominant-negative manner with the dimerization-polymerization process of intermediate filament assembly.
Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.
TLDR
The genetic linkage data that led us to examine the SOD-1 gene for mutations is reported, and a new microsatellite DNA marker for D21S63, derived from the cosmid PW517, was used to reinvestigate linkage of FALS to chromosome 21.
Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures
TLDR
Genotype analyses of three families using polymorphic markers near the GAD genes suggest that a mutation of GAD is not directly involved in all cases of pyridoxine-dependent seizure.
A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter
TLDR
The results suggest that a gene on the subtelomeric region of chromosome 3p contributes to general intelligence.
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