Publications:

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: PARK2: N273S

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: PRKN: N273S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PARK2: N273S

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Developing Organoids from Ovarian Cancer as Experimental and Preclinical Models.

Stem Cell Reports

Maenhoudt, Nina N; Defraye, Charlotte C; Boretto, Matteo M; Jan, Ziga Z; Heremans, Ruben R; Boeckx, Bram B; Hermans, Florian F; Arijs, Ingrid I; Cox, Benoit B; Van Nieuwenhuysen, Els E; Vergote, Ignace I; Van Rompuy, Anne-Sophie AS; Lambrechts, Diether D; Timmerman, Dirk D; Vankelecom, Hugo H

Publication Date: 2020-04-14

Variant appearance in text: PRKN: N273S

PubMed Link: 32243841

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: PARK2: 818A>G; rs373750972

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Synergistic recruitment of UbcH7~Ub and phosphorylated Ubl domain triggers parkin activation.

The Embo Journal

Condos, Tara Ec TE; Dunkerley, Karen M KM; Freeman, E Aisha EA; Barber, Kathryn R KR; Aguirre, Jacob D JD; Chaugule, Viduth K VK; Xiao, Yiming Y; Konermann, Lars L; Walden, Helen H; Shaw, Gary S GS

Publication Date: 2018-12-03

Variant appearance in text: parkin: N273S

PubMed Link: 30446597

Variant Present in the following documents:

• Main text
• EMBJ-37-e100014.pdf

View BVdb publication page

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A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

Frontiers In Genetics

George, Arlene J AJ; Hoffiz, Yarely C YC; Charles, Antoinette J AJ; Zhu, Ying Y; Mabb, Angela M AM

Publication Date: 2018

Variant appearance in text: PARK2: N273S

PubMed Link: 29491882

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Current Genomics

Oczkowska, Anna A; Kozubski, Wojciech W; Lianeri, Margarita M; Dorszewska, Jolanta J

Publication Date: 2013-12

Variant appearance in text: PRKN: 818A>G

PubMed Link: 24532983

Variant Present in the following documents:

• Main text
• CG-14-502.pdf

View BVdb publication page

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Human Mutation

Nuytemans, Karen K; Theuns, Jessie J; Cruts, Marc M; Van Broeckhoven, Christine C

Publication Date: 2010-07

Variant appearance in text: PARK2: 818A>G

PubMed Link: 20506312

Variant Present in the following documents:

• humu0031-0763-SD1.pdf

View BVdb publication page

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