Publications:

Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.

Frontiers In Physiology

Sarkar, Samantha K SK; Matyas, Angela A; Asikhia, Ikhuosho I; Hu, Zhenkun Z; Golder, Mia M; Beehler, Kaitlyn K; Kosenko, Tanja T; Lagace, Thomas A TA

Publication Date: 2022

Variant appearance in text: PCSK9: F515L

PubMed Link: 36187800

Variant Present in the following documents:

• Main text
• fphys-13-960272.pdf

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A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry

Sarkar, Samantha K SK; Foo, Alexander C Y ACY; Matyas, Angela A; Asikhia, Ikhuosho I; Kosenko, Tanja T; Goto, Natalie K NK; Vergara-Jaque, Ariela A; Lagace, Thomas A TA

Publication Date: 2020-02-21

Variant appearance in text: PCSK9: F515L

PubMed Link: 31949048

Variant Present in the following documents:

• Main text
• zbc2285.pdf
• supp_RA119.010221_154343_2_supp_459054_q45vbg.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HCHOLA3: F515L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PCSK9: F515L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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