The signal sequence of AMD-related variant Cystatin C is not sufficient for mistrafficking to mitochondria

A. Riccio; M. Jackson; W. Hunziker; L.I. Paraoan

The signal sequence of AMD-related variant Cystatin C is not sufficient for mistrafficking to mitochondria

A. Riccio, M. Jackson, W. Hunziker, L.I. Paraoan

Biology

Research output: Contribution to journal › Article (journal) › peer-review

Abstract

Purpose: The purpose of this study was to determine whether the signal peptide is alone responsible for the intracellular mislocalization of the age-related macular degeneration (AMD)-related variant Cystatin C in the retinal pigmented epithelium (RPE). Variant B cystatin C is generated by a point mutation in its leader sequence. As a consequence, this protein has been reported to divert from the secretory pathway to an unusual mitochondria association.

Original language	English
Journal	Investigative Ophthalmology & Visual Science
Volume	55
Issue number	13
Publication status	Published - 1 Jun 2014

Keywords

412 age-related macular degeneration
701 retinal pigment epithelium
600 mitochondria

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Riccio, A., Jackson, M., Hunziker, W., & Paraoan, L. I. (2014). The signal sequence of AMD-related variant Cystatin C is not sufficient for mistrafficking to mitochondria. Investigative Ophthalmology & Visual Science, 55(13). https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000433199701180&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f3ec48df247ee1138ccd8d3ba59bacc2

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abstract = "Purpose: The purpose of this study was to determine whether the signal peptide is alone responsible for the intracellular mislocalization of the age-related macular degeneration (AMD)-related variant Cystatin C in the retinal pigmented epithelium (RPE). Variant B cystatin C is generated by a point mutation in its leader sequence. As a consequence, this protein has been reported to divert from the secretory pathway to an unusual mitochondria association.",

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author = "A. Riccio and M. Jackson and W. Hunziker and L.I. Paraoan",

year = "2014",

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journal = "Investigative Ophthalmology & Visual Science",

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Riccio, A, Jackson, M, Hunziker, W & Paraoan, LI 2014, 'The signal sequence of AMD-related variant Cystatin C is not sufficient for mistrafficking to mitochondria', Investigative Ophthalmology & Visual Science, vol. 55, no. 13. <https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000433199701180&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f3ec48df247ee1138ccd8d3ba59bacc2>

TY - JOUR

T1 - The signal sequence of AMD-related variant Cystatin C is not sufficient for mistrafficking to mitochondria

AU - Riccio, A.

AU - Jackson, M.

AU - Hunziker, W.

AU - Paraoan, L.I.

PY - 2014/6/1

Y1 - 2014/6/1

N2 - Purpose: The purpose of this study was to determine whether the signal peptide is alone responsible for the intracellular mislocalization of the age-related macular degeneration (AMD)-related variant Cystatin C in the retinal pigmented epithelium (RPE). Variant B cystatin C is generated by a point mutation in its leader sequence. As a consequence, this protein has been reported to divert from the secretory pathway to an unusual mitochondria association.

AB - Purpose: The purpose of this study was to determine whether the signal peptide is alone responsible for the intracellular mislocalization of the age-related macular degeneration (AMD)-related variant Cystatin C in the retinal pigmented epithelium (RPE). Variant B cystatin C is generated by a point mutation in its leader sequence. As a consequence, this protein has been reported to divert from the secretory pathway to an unusual mitochondria association.

KW - 412 age-related macular degeneration

KW - 701 retinal pigment epithelium

KW - 600 mitochondria

M3 - Article (journal)

SN - 1552-5783

VL - 55

JO - Investigative Ophthalmology & Visual Science

JF - Investigative Ophthalmology & Visual Science

IS - 13

ER -

The signal sequence of AMD-related variant Cystatin C is not sufficient for mistrafficking to mitochondria

Abstract

Keywords

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