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

Owen, F, Poulter, M, Shah, T, Collinge, J, Lofthouse, R, Baker, H, Ridley, R, McVey, J and Crow, TJ (1990) An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. Brain Res Mol Brain Res, 7 (3). pp. 273-276.

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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.

Item Type: Article
Authors :
NameEmailORCID
Owen, FUNSPECIFIEDUNSPECIFIED
Poulter, MUNSPECIFIEDUNSPECIFIED
Shah, TUNSPECIFIEDUNSPECIFIED
Collinge, JUNSPECIFIEDUNSPECIFIED
Lofthouse, RUNSPECIFIEDUNSPECIFIED
Baker, HUNSPECIFIEDUNSPECIFIED
Ridley, RUNSPECIFIEDUNSPECIFIED
McVey, Jj.mcvey@surrey.ac.ukUNSPECIFIED
Crow, TJUNSPECIFIEDUNSPECIFIED
Date : April 1990
Uncontrolled Keywords : Amino Acid Sequence, Base Sequence, Creutzfeldt-Jakob Syndrome, DNA Transposable Elements, Humans, Molecular Sequence Data, Prions
Related URLs :
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 10:16
Last Modified : 17 May 2017 14:48
URI: http://epubs.surrey.ac.uk/id/eprint/827102

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