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Literature DB >> 2159587

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.

F Owen¹, M Poulter, T Shah, J Collinge, R Lofthouse, H Baker, R Ridley, J McVey, T J Crow.

Abstract

In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.

Entities: Disease Gene Mutation Species

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Year: 1990 PMID： 2159587 DOI： 10.1016/0169-328x(90)90038-f

Source DB: PubMed Journal: Brain Res Mol Brain Res ISSN： 0169-328X

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Cited

25 in total

Review 1. Genetic PrP Prion Diseases.

Authors: Mee-Ohk Kim; Leonel T Takada; Katherine Wong; Sven A Forner; Michael D Geschwind
Journal: Cold Spring Harb Perspect Biol Date: 2018-05-01 Impact factor: 10.005

2. The primary structure of the prion protein influences the distribution of abnormal prion protein in the central nervous system.

Authors: T Kitamoto; K Doh-ura; T Muramoto; M Miyazono; J Tateishi
Journal: Am J Pathol Date: 1992-08 Impact factor: 4.307

3. Starting again with clinical research.

Authors: T J Crow
Journal: BMJ Date: 1991-03-02

Review 4. Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Authors: Leonel T Takada; Mee-Ohk Kim; Ross W Cleveland; Katherine Wong; Sven A Forner; Ignacio Illán Gala; Jamie C Fong; Michael D Geschwind
Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2017-01 Impact factor: 3.568

5. Two mutant prion proteins expressed in cultured cells acquire biochemical properties reminiscent of the scrapie isoform.

Authors: S Lehmann; D A Harris
Journal: Proc Natl Acad Sci U S A Date: 1996-05-28 Impact factor: 11.205

Review 6. Spontaneous generation of infectious nucleating amyloids in the transmissible and nontransmissible cerebral amyloidoses.

Authors: D C Gajdusek
Journal: Mol Neurobiol Date: 1994-02 Impact factor: 5.590

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.

Review 1. Genetic PrP Prion Diseases.

2. The primary structure of the prion protein influences the distribution of abnormal prion protein in the central nervous system.

3. Starting again with clinical research.

Review 4. Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

5. Two mutant prion proteins expressed in cultured cells acquire biochemical properties reminiscent of the scrapie isoform.

Review 6. Spontaneous generation of infectious nucleating amyloids in the transmissible and nontransmissible cerebral amyloidoses.

Review 7. Bovine spongiform encephalopathy (BSE): the current situation and research.

8. 129/Ola mice carrying a null mutation in PrP that abolishes mRNA production are developmentally normal.

Review 9. Molecular genetic studies of Creutzfeldt-Jakob disease.

Review 10. Neurodegeneration in humans caused by prions.