User profiles for David R. Borchelt
David BorcheltProfessor of Neuroscience, University of Florida Verified email at ufl.edu Cited by 46379 |
[PDF][PDF] Familial Alzheimer's disease–linked presenilin 1 variants elevate Aβ1–42/1–40 ratio in vitro and in vivo
Mutations in the presenilin 1 (PS1) and presenilin 2 genes cosegregate with the majority of
early-onset familial Alzheimer's disease (FAD) pedigrees. We now document that the Aβ1–42…
early-onset familial Alzheimer's disease (FAD) pedigrees. We now document that the Aβ1–42…
Mutant presenilins specifically elevate the levels of the 42 residue β-amyloid peptide in vivo: evidence for augmentation of a 42-specific γ secretase
…, SL Wagner, SG Younkin, DR Borchelt - Human molecular …, 2004 - academic.oup.com
Amyloid precursor protein (APP) is endoproteolytically processed by BACE1 and γ-secretase
to release amyloid peptides (Aβ40 and 42) that aggregate to form senile plaques in the …
to release amyloid peptides (Aβ40 and 42) that aggregate to form senile plaques in the …
An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
Mutations in Cu/Zn superoxide dismutase (SOD1) cause a subset of cases of familial
amyotrophic lateral sclerosis. Four lines of mice accumulating one of these mutant proteins (G37R) …
amyotrophic lateral sclerosis. Four lines of mice accumulating one of these mutant proteins (G37R) …
BACE1 is the major β-secretase for generation of Aβ peptides by neurons
H Cai, Y Wang, D McCarthy, H Wen, DR Borchelt… - Nature …, 2001 - nature.com
Two β-secretases, BACE1 and BACE2, are involved in generation of Alzheimer's disease
Aβ peptides 1, 2, 3. We report that secretion of Aβ peptides (Aβ1–40/42 and Aβ11–40/42) is …
Aβ peptides 1, 2, 3. We report that secretion of Aβ peptides (Aβ1–40/42 and Aβ11–40/42) is …
Scrapie prion protein contains a phosphatidylinositol glycolipid
N Stahl, DR Borchelt, K Hsiao, SB Prusiner - Cell, 1987 - cell.com
The scrapie (PrPsC) and cellular (PrPc) prion proteins are encoded by the same gene, and
their different properties am thought to arise from posttranslational modifications. We have …
their different properties am thought to arise from posttranslational modifications. We have …
[PDF][PDF] Accelerated amyloid deposition in the brains of transgenic mice coexpressing mutant presenilin 1 and amyloid precursor proteins
Missense mutations in two related genes, termed presenilin 1 (PS1) and presenilin 2 (PS2),
cause dementia in a subset of early-onset familial Alzheimer's disease (FAD) pedigrees. In a …
cause dementia in a subset of early-onset familial Alzheimer's disease (FAD) pedigrees. In a …
[PDF][PDF] Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo
The majority of early-onset cases of familial Alzheimer's disease (FAD) are linked to mutations
in two related genesPS1 and PS2, located on chromosome 14 and 1, respectively. Using …
in two related genesPS1 and PS2, located on chromosome 14 and 1, respectively. Using …
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin
…, DL Price, CA Ross, DR Borchelt - Human molecular …, 1999 - academic.oup.com
Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by the expansion
of a glutamine repeat in the N-terminus of the huntingtin protein. To gain insight into the …
of a glutamine repeat in the N-terminus of the huntingtin protein. To gain insight into the …
Decreased expression of striatal signaling genes in a mouse model of Huntington's disease
…, G Schilling, CA Ross, DR Borchelt… - Human molecular …, 2000 - academic.oup.com
To understand gene expression changes mediated by a polyglutamine repeat expansion in
the human huntingtin protein, we used oligonucleotide DNA arrays to profile ~6000 striatal …
the human huntingtin protein, we used oligonucleotide DNA arrays to profile ~6000 striatal …
Co-expression of multiple transgenes in mouse CNS: a comparison of strategies
…, NA Jenkins, NG Copeland, DR Borchelt - Biomolecular …, 2001 - Elsevier
The introduction of two transgenes into one animal is increasingly common as transgenic
experiments become more sophisticated. In this study we examine two strategies for creating …
experiments become more sophisticated. In this study we examine two strategies for creating …