CADASIL: Notch signaling defect or protein accumulation problem?

The Journal of clinical investigation ·Vol. 105 ·No. 5 ·2000-03-00 ·Pages 561-2

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Abstract

暂无摘要

MeSH Terms

Brain/metabolism Dementia, Multi-Infarct/genetics,pathology Humans Membrane Proteins/genetics Mutation Nervous System Diseases/genetics Proto-Oncogene Proteins/genetics,metabolism Receptor, Notch1 Receptors, Cell Surface Signal Transduction Transcription Factors

Chemicals

Membrane Proteins NOTCH1 protein, human Proto-Oncogene Proteins Receptor, Notch1 Receptors, Cell Surface Transcription Factors

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

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Divisions of Human Genetics and Clinical Laboratories, and Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA. [email protected]

References (18)

18 references, click to expand

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.
J Clin Invest. 2000 Mar;105(5):597-605 PMID: 10712431
Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein.
Biochem Biophys Res Commun. 1984 May 16;120(3):885-90 PMID: 6375662
TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms.
Cell. 1991 Aug 23;66(4):649-61 PMID: 1831692
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
Nature. 1996 Oct 24;383(6602):707-10 PMID: 8878478
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
Science. 1997 Jun 27;276(5321):2045-7 PMID: 9197268
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
Nat Genet. 1997 Jul;16(3):235-42 PMID: 9207787
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
Nat Genet. 1997 Jul;16(3):243-51 PMID: 9207788
alpha-Synuclein--a link between Parkinson and Alzheimer diseases?
Nat Genet. 1997 Aug;16(4):325-7 PMID: 9241262
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
Lancet. 1997 Nov 22;350(9090):1511-5 PMID: 9388399
Requirement for dynamin during Notch signaling in Drosophila neurogenesis.
Dev Biol. 1997 Dec 15;192(2):585-98 PMID: 9441691
Defects in limb, craniofacial, and thymic development in Jagged2 mutant mice.
Genes Dev. 1998 Apr 1;12(7):1046-57 PMID: 9531541
Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Am J Hum Genet. 1998 Jun;62(6):1361-9 PMID: 9585603
Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain.
Nature. 1998 May 28;393(6683):382-6 PMID: 9620803
The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries.
Nat Genet. 1998 Jul;19(3):274-8 PMID: 9662403
Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1.
Hum Mol Genet. 1999 May;8(5):723-30 PMID: 10196361
Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: implications for Huntington's disease pathology.
Proc Natl Acad Sci U S A. 1999 Apr 13;96(8):4604-9 PMID: 10200309
Notch signaling: cell fate control and signal integration in development.
Science. 1999 Apr 30;284(5415):770-6 PMID: 10221902
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.
Gastroenterology. 1999 May;116(5):1141-8 PMID: 10220506

Article Info

Journal

The Journal of clinical investigation

Abbr.

J Clin Invest

ISSN

0021-9738

DOI

10.1172/JCI9511

[email protected]

Published

2000-03-00

Pages

561-2

Language

English

Region

United States

NLM ID

7802877

PMCID

PMC292459

Subset

Corrections

CommentOn

PMID: 10712431

External Links

PubMed source DOI: 10.1172/JCI9511 PMC Full Text View journal details

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