Dorit B. Donoviel

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Mice lacking both presenilin genes exhibit early embryonic patterning defects.

Dorit B. Donoviel, A K Hadjantonakis, M. Ikeda, H. Zheng, Peter H. St George - Hyslop, A. Bernstein
Genes & development
1999

Genetic studies in worms, flies, and humans have implicated the presenilins in the regulation of the Notch signaling pathway and in the pathogenesis of Alzheimer's Disease. There are two highly… (More)

Notch pathway molecules are essential for the maintenance, but not the generation, of mammalian neural stem cells.

Seiji Hitoshi, Tania O. Alexson, +7 authors Derek van der Kooy
Genes & development
2002

Neural stem cells, which exhibit self-renewal and multipotentiality, are generated in early embryonic brains and maintained throughout the lifespan. The mechanisms of their generation and maintenance… (More)

Presenilins are required for gamma-secretase cleavage of beta-APP and transmembrane cleavage of Notch-1.

Zhenrong Zhang, P. Nadeau, +4 authors Bruce A. Yankner
Nature cell biology
2000

Proteinuria and perinatal lethality in mice lacking NEPH1, a novel protein with homology to NEPHRIN.

Dorit B. Donoviel, Diana Freed, +13 authors D. R. Powell
Molecular and cellular biology
2001

A high-throughput, retrovirus-mediated mutagenesis method based on gene trapping in embryonic stem cells was used to identify a novel mouse gene. The human ortholog encodes a transmembrane protein… (More)

Analysis of muscle creatine kinase gene regulatory elements in skeletal and cardiac muscles of transgenic mice.

Dorit B. Donoviel, Margaret A Shield, Jean N. Buskin, Harald Haugen, Christopher H Clegg, S. D. Hauschka
Molecular and cellular biology
1996

Regulatory regions of the mouse muscle creatine kinase (MCK) gene, previously discovered by analysis in cultured muscle cells, were analyzed in transgenic mice. The 206-bp MCK enhancer at nt-1256 was… (More)

Presenilins are required for γ-secretase cleavage of β-APP and transmembrane cleavage of Notch-1

Zhuohua Zhang, Philip Nadeau, +4 authors Bruce A. Yankner
Nature Cell Biology
2000

utations in presenilin-1 (PS1) and presenilin-2 (PS2) cause early-onset familial Alzheimer’s disease. The finding that presenilin mutations increase production of the amyloidogenic, 42-amino-acid… (More)

Upregulation of BiP and CHOP by the unfolded-protein response is independent of presenilin expression

Naoyuki Sato, Fumihiko Urano, +9 authors Gopal Thinakaran
Nature Cell Biology
2000

Presenilin 1 (PS1), a polytopic membrane protein, has a critical role in the trafficking and proteolysis of a selected set of transmembrane proteins. The vast majority of individuals affected with… (More)

Presenilin-1 and presenilin-2 exhibit distinct yet overlapping gamma-secretase activities.

Ming-tain Lai, Elizabeth Chen, +11 authors Yue-Ming Li
The Journal of biological chemistry
2003

Presenilin-1 (PS1) and presenilin 2 (PS2) are proposed to be transmembrane aspartyl proteases that cleave amyloid precursor protein and Notch. PS1- and PS2-mediated activities were individually… (More)

Presenilin 2 regulates the systolic function of heart by modulating Ca2+ signaling.

Toshihiro Takeda, Michio Asahi, +18 authors Kinya Otsu
FASEB journal : official publication of the…
2005

Genetic studies of families with familial Alzheimer's disease have implicated presenilin 2 (PS2) in the pathogenesis of this disease. PS2 is ubiquitously expressed in various tissues including… (More)

Cloning and characterization of Sel-1l, a murine homolog of the C. elegans sel-1 gene

Dorit B. Donoviel, Michael S. Donoviel, Eric Wen-Chou Fan, A.-K Hadjantonakis, A. Bernstein
Mechanisms of Development
1998

The Notch signaling pathway regulates specification and proliferation in a variety of cell lineages in invertebrates and vertebrates. We have cloned a murine homolog of SEL-1, a key negative… (More)

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