Literature DB >> 1349721

A dementing illness associated with a novel insertion in the prion protein gene.

F Owen1, M Poulter, J Collinge, M Leach, R Lofthouse, T J Crow, A E Harding.   

Abstract

Following our previous report of an 144-bp insertion in the open reading frame of the prion protein (PrP) gene, we have now identified a larger, 216-bp, insertion in the gene. The insertion which is in frame encodes 9 extra octapeptide repeat sequences in addition to the 5 repeats normally present and represents the largest insertion so far detected in the PrP gene.

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Year:  1992        PMID： 1349721     DOI： 10.1016/0169-328x(92)90056-h

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


  21 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.  Octapeptide repeat insertions increase the rate of protease-resistant prion protein formation.

Authors:  Roger A Moore; Christian Herzog; John Errett; David A Kocisko; Kevin M Arnold; Stanley F Hayes; Suzette A Priola
Journal:  Protein Sci       Date:  2006-02-01       Impact factor: 6.725

3.  A national survey on the allelic, genotypic, and haplotypic distribution of PRNP insertion and deletion polymorphisms in Korean cattle.

Authors:  Younyoung Kim; Jong Bok Kim; Hyunjoo Sohn; Chaeyoung Lee
Journal:  J Genet       Date:  2009-04       Impact factor: 1.166

4.  Accumulation of protease-resistant prion protein (PrP) and apoptosis of cerebellar granule cells in transgenic mice expressing a PrP insertional mutation.

Authors:  R Chiesa; B Drisaldi; E Quaglio; A Migheli; P Piccardo; B Ghetti; D A Harris
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-09       Impact factor: 11.205

Review 5.  Experimental Models of Inherited PrP Prion Diseases.

Authors:  Joel C Watts; Stanley B Prusiner
Journal:  Cold Spring Harb Perspect Med       Date:  2017-11-01       Impact factor: 6.915

Review 6.  Hereditary Human Prion Diseases: an Update.

Authors:  Matthias Schmitz; Kathrin Dittmar; Franc Llorens; Ellen Gelpi; Isidre Ferrer; Walter J Schulz-Schaeffer; Inga Zerr
Journal:  Mol Neurobiol       Date:  2016-06-20       Impact factor: 5.590

7.  Huntington disease phenocopy is a familial prion disease.

Authors:  R C Moore; F Xiang; J Monaghan; D Han; Z Zhang; L Edström; M Anvret; S B Prusiner
Journal:  Am J Hum Genet       Date:  2001-10-09       Impact factor: 11.025

Review 8.  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

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

Authors:  L G Goldfarb; P Brown; L Cervenakova; D C Gajdusek
Journal:  Mol Neurobiol       Date:  1994 Apr-Jun       Impact factor: 5.590

Review 10.  Neurodegeneration in humans caused by prions.

Authors:  S B Prusiner
Journal:  West J Med       Date:  1994-09
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