D. Rosen

Publications29
h-index16
Citations7,979
Highly Influential Citations354
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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.
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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.
View on PubMed
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.
View on Nature
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.
View on Wiley
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.
View on Wiley
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.
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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.
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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.
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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.
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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.
View on Wolters Kluwer
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