Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.L9R
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PRNP

NM_000311.5:p.L9R

Associated Papers

The Protein-disulfide Isomerase ERp57 Regulates the Steady-state Levels of the Prion Protein.

Torres M et al.

The Journal of Biological Chemistry, 2015

Polar substitutions in helix 3 of the prion protein produce transmembrane isoforms that disturb vesicle trafficking.

Sanchez-Garcia J et al.

Human Molecular Genetics, 2013

Prion protein misfolding affects calcium homeostasis and sensitizes cells to endoplasmic reticulum stress.

Torres M et al.

Plos One, 2010

Compartment-restricted biotinylation reveals novel features of prion protein metabolism in vivo.

Emerman AB et al.

Molecular Biology of the Cell, 2010

Prion protein-detergent micelle interactions studied by NMR in solution.

Hornemann S et al.

The Journal of Biological Chemistry, 2009

Frequent missense and insertion/deletion polymorphisms in the ovine Shadoo gene parallel species-specific variation in PrP.

Daude N et al.

Plos One, 2009

Neurodegenerative illness in transgenic mice expressing a transmembrane form of the prion protein.

Stewart RS et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

Protection from cytosolic prion protein toxicity by modulation of protein translocation.

Rane NS et al.

The Embo Journal, 2004

Mutational analysis of topological determinants in prion protein (PrP) and measurement of transmembrane and cytosolic PrP during prion infection.

Stewart RS et al.

The Journal of Biological Chemistry, 2003

Mutant PrP is delayed in its exit from the endoplasmic reticulum, but neither wild-type nor mutant PrP undergoes retrotranslocation prior to proteasomal degradation.

Drisaldi B et al.

The Journal of Biological Chemistry, 2003

Trafficking, turnover and membrane topology of PrP.

Harris DA

British Medical Bulletin, 2003

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