Publications:

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Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Frontiers In Genetics

Ayoub, Carine C; Azar, Yara Y; Maddah, Dina D; Ghaleb, Youmna Y; Elbitar, Sandy S; Abou-Khalil, Yara Y; Jambart, Selim S; Varret, Mathilde M; Boileau, Catherine C; El Khoury, Petra P; Abifadel, Marianne M

Publication Date: 2022

Variant appearance in text: LPL: Asp201Val

PubMed Link: 36061186

Variant Present in the following documents:

• Main text
• fgene-13-961028.pdf

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Lipoprotein Lipase and Its Regulators: An Unfolding Story.

Trends In Endocrinology And Metabolism: Tem

Wu, Shuangcheng Alivia SA; Kersten, Sander S; Qi, Ling L

Publication Date: 2021-01

Variant appearance in text: LPL: Asp201Val

PubMed Link: 33277156

Variant Present in the following documents:

• Main text

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Therapeutic plasma exchange for the management of severe gestational hypertriglyceridaemic pancreatitis due to lipoprotein lipase mutation.

Endocrinology, Diabetes & Metabolism Case Reports

Kim, Albert S AS; Hakeem, Rashida R; Abdullah, Azaliya A; Hooper, Amanda J AJ; Tchan, Michel C MC; Alahakoon, Thushari I TI; Girgis, Christian M CM

Publication Date: 2020-03-13

Variant appearance in text: LPL: 602A>T; Asp201Val

PubMed Link: 32168469

Variant Present in the following documents:

• Main text
• EDM19-0165.pdf

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GPIHBP1 and Lipoprotein Lipase, Partners in Plasma Triglyceride Metabolism.

Cell Metabolism

Young, Stephen G SG; Fong, Loren G LG; Beigneux, Anne P AP; Allan, Christopher M CM; He, Cuiwen C; Jiang, Haibo H; Nakajima, Katsuyuki K; Meiyappan, Muthuraman M; Birrane, Gabriel G; Ploug, Michael M

Publication Date: 2019-07-02

Variant appearance in text: LPL: D201V

PubMed Link: 31269429

Variant Present in the following documents:

• Main text

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Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Birrane, Gabriel G; Beigneux, Anne P AP; Dwyer, Brian B; Strack-Logue, Bettina B; Kristensen, Kristian Kølby KK; Francone, Omar L OL; Fong, Loren G LG; Mertens, Haydyn D T HDT; Pan, Clark Q CQ; Ploug, Michael M; Young, Stephen G SG; Meiyappan, Muthuraman M

Publication Date: 2019-01-29

Variant appearance in text: LPL: D201V

PubMed Link: 30559189

Variant Present in the following documents:

• Main text
• pnas.201817984.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: LPL: D201V

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: LPL: D201V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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