(Q40056954)

16 September 2017

title

Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity (English)

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16 September 2017

Svanhild Nornes

1

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16 September 2017

Morgan Newman

2

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16 September 2017

Giuseppe Verdile

3

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16 September 2017

Simon Wells

4

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16 September 2017

Cristi L Stoick-Cooper

5

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16 September 2017

Ben Tucker

6

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16 September 2017

Inna Frederich-Sleptsova

7

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16 September 2017

Ralph Martins

8

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16 September 2017

Michael Lardelli

9

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16 September 2017

publication date

2 November 2007

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16 September 2017

published in

Human Molecular Genetics

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16 September 2017

volume

17

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16 September 2017

issue

3

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16 September 2017

page(s)

402-412

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Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

16 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Expression of truncated presenilin 2 splice variant in Alzheimer's disease, bipolar disorder, and schizophrenia brain cortex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Alternative transcripts of presenilin-1 associated with frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Identification of a second presenilin gene in zebrafish with similarity to the human Alzheimer's disease gene presenilin2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Zebrafish (Danio rerio) presenilin promotes aberrant amyloid beta-peptide production and requires a critical aspartate residue for its function in amyloidogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Functional gamma-secretase inhibitors reduce beta-amyloid peptide levels in brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

A gamma-secretase inhibitor blocks Notch signaling in vivo and causes a severe neurogenic phenotype in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Characterization of an early temperature-sensitive and cytocidal double mutant of adenovirus type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Mice lacking both presenilin genes exhibit early embryonic patterning defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Retinoic acid signalling links left-right asymmetric patterning and bilaterally symmetric somitogenesis in the zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Presenilin 1 negatively regulates beta-catenin/T cell factor/lymphoid enhancer factor-1 signaling independently of beta-amyloid precursor protein and notch processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Inversin forms a complex with catenins and N-cadherin in polarized epithelial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

A transgenic Lef1/beta-catenin-dependent reporter is expressed in spatially restricted domains throughout zebrafish development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Presenilin-1 interacts with plakoglobin and enhances plakoglobin-Tcf-4 association. Implications for the regulation of beta-catenin/Tcf-4-dependent transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Skeletal and CNS defects in Presenilin-1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Notch1 is essential for postimplantation development in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Presenilin couples the paired phosphorylation of beta-catenin independent of axin: implications for beta-catenin activation in tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Deletion of presenilin 1 hydrophilic loop sequence leads to impaired gamma-secretase activity and exacerbated amyloid pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Alterations of pre-mRNA splicing in cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Beta-catenin interacts with the FUS proto-oncogene product and regulates pre-mRNA splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Generation of anti-apoptotic presenilin-2 polypeptides by alternative transcription, proteolysis, and caspase-3 cleavage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Alzheimer disease: presenilin springs a leak.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: effects of FAD mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Genetics of early-onset Alzheimer dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

APP processing and amyloid deposition in mice haplo-insufficient for presenilin 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Mutant human presenilin 1 protects presenilin 1 null mouse against embryonic lethality and elevates Abeta1-42/43 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Pre-mRNA splicing modulations in senescence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Alternative splicing: an emerging topic in molecular and clinical oncology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

RBP-J (Rbpsuh) is essential to maintain muscle progenitor cells and to generate satellite cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Vertebrate MAX-1 is required for vascular patterning in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Developmental control of Presenilin1 expression, endoproteolysis, and interaction in zebrafish embryos.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

The identity and distribution of neural cells expressing the mesodermal determinant spadetail

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Expression of zebrafish bHLH genes ngn1 and nrd defines distinct stages of neural differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

Presenilin Proteins Undergo Heterogeneous Endoproteolysis between Thr291and Ala299and Occur as Stable N- and C-Terminal Fragments in Normal and Alzheimer Brain Tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM317

21 January 2018

Identifiers

DOI

10.1093/HMG/DDM317

1 reference

16 September 2017

1 reference