(Q28587858)

31 January 2017

title

Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly (English)

1 reference

cobblestone lissencephaly

31 January 2017

0 references

1 reference

GOA release 2020-03-11

1 reference

D. Hartmann

1

1 reference

31 January 2017

B. De Strooper

series ordinal

2

1 reference

31 January 2017

P. Saftig

series ordinal

3

1 reference

31 January 2017

language of work or name

English

0 references

publication date

15 July 1999

1 reference

31 January 2017

1 reference

31 January 2017

volume

9

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31 January 2017

issue

14

1 reference

31 January 2017

page(s)

719–727

1 reference

Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

31 January 2017

cites work

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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

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Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues

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Regional and cellular presenilin 1 gene expression in human and rat tissues

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Developmental regulation of presenilin-1 processing in the brain suggests a role in neuronal differentiation

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Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

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Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

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Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo

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Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

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7 January 2021

Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

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7 January 2021

beta-Amyloid precursor protein-deficient mice show reactive gliosis and decreased locomotor activity

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7 January 2021

Skeletal and CNS defects in Presenilin-1-deficient mice

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7 January 2021

Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm

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7 January 2021

Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene

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7 January 2021

Nuclear access and action of notch in vivo

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7 January 2021

Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain

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7 January 2021

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

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7 January 2021

Presenilin is required for activity and nuclear access of Notch in Drosophila

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7 January 2021

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity

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7 January 2021

Degeneration of Cajal-Retzius cells in the developing cerebral cortex of the mouse after ablation of meningeal cells by 6-hydroxydopamine

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7 January 2021

Inhibition of neural crest cell migration by aggregating chondroitin sulfate proteoglycans is mediated by their hyaluronan-binding region

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7 January 2021

The reeler gene-associated antigen on Cajal-Retzius neurons is a crucial molecule for laminar organization of cortical neurons.

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7 January 2021

Chondroitin sulfate proteoglycans in the developing central nervous system. II. Immunocytochemical localization of neurocan and phosphacan

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7 January 2021

Cerebro-ocular dysgenesis (Walker-Warburg syndrome): neuropathologic and etiologic analysis.

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7 January 2021

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity

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7 January 2021

Cortical dysplasia in a 23-week fetus with Fukuyama congenital muscular dystrophy (FCMD).

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7 January 2021

Disorder of cerebellar foliation in Walker's lissencephaly and neu-laxova syndrome.

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7 January 2021

Cortical dysplasia associated with massive ectopia of neurons and glial cells within the subarachnoid space

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7 January 2021

Essential role of alpha 6 integrins in cortical and retinal lamination.

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7 January 2021

GABA stimulates chemotaxis and chemokinesis of embryonic cortical neurons via calcium-dependent mechanisms.

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7 January 2021

Meningeal cells stimulate neuronal migration and the formation of radial glial fascicles from the cerebellar external granular layer

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7 January 2021

Meningeal cells stimulate and direct the migration of cerebellar external granule cells in vitro

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7 January 2021

Purification, characterization and developmental expression of a brain-specific chondroitin sulfate proteoglycan, 6B4 proteoglycan/phosphacan.

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7 January 2021

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7 January 2021

Events governing organization of postmigratory neurons: studies on brain development in normal and reeler mice.

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7 January 2021

MARCKS deficiency in mice leads to abnormal brain development and perinatal death

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7 January 2021

Widespread neuronal ectopia associated with secondary defects in cerebrocortical chondroitin sulfate proteoglycans and basal lamina in MARCKS-deficient mice

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7 January 2021

Dual role of Cajal-Retzius cells and reelin in cortical development

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7 January 2021

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

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7 January 2021

Endothelial changes in muscle and skin biopsies in patients with CADASIL

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7 January 2021

Effects of PS1 deficiency on membrane protein trafficking in neurons.

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7 January 2021

A panel of monoclonal antibodies against reelin, the extracellular matrix protein defective in reeler mutant mice

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7 January 2021