Publications:

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: APP: 529G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Inflammasomes in neuroinflammatory and neurodegenerative diseases.

Embo Molecular Medicine

Voet, Sofie S; Srinivasan, Sahana S; Lamkanfi, Mohamed M; van Loo, Geert G

Publication Date: 2019-06

Variant appearance in text: APP: D177N

PubMed Link: 31015277

Variant Present in the following documents:

• Main text
• EMMM-11-e10248.pdf

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

The Journal Of Biological Chemistry

Torres, Mauricio M; Medinas, Danilo B DB; Matamala, José Manuel JM; Woehlbier, Ute U; Cornejo, Víctor Hugo VH; Solda, Tatiana T; Andreu, Catherine C; Rozas, Pablo P; Matus, Soledad S; Muñoz, Natalia N; Vergara, Carmen C; Cartier, Luis L; Soto, Claudio C; Molinari, Maurizio M; Hetz, Claudio C

Publication Date: 2015-09-25

Variant appearance in text: APP: D177N

PubMed Link: 26170458

Variant Present in the following documents:

• Main text

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From prion diseases to prion-like propagation mechanisms of neurodegenerative diseases.

International Journal Of Cell Biology

Acquatella-Tran Van Ba, Isabelle I; Imberdis, Thibaut T; Perrier, Véronique V

Publication Date: 2013

Variant appearance in text: APP: D177N

PubMed Link: 24222767

Variant Present in the following documents:

• Main text
• IJCB2013-975832.pdf

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Cellular prion protein: from physiology to pathology.

Viruses

Yusa, Sei-ichi S; Oliveira-Martins, José B JB; Sugita-Konishi, Yoshiko Y; Kikuchi, Yutaka Y

Publication Date: 2012-11-14

Variant appearance in text: APP: D177N

PubMed Link: 23202518

Variant Present in the following documents:

• Main text

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Prion protein facilitates uptake of zinc into neuronal cells.

Nature Communications

Watt, Nicole T NT; Taylor, David R DR; Kerrigan, Talitha L TL; Griffiths, Heledd H HH; Rushworth, Jo V JV; Whitehouse, Isobel J IJ; Hooper, Nigel M NM

Publication Date: 2012

Variant appearance in text: APP: D177N

PubMed Link: 23072804

Variant Present in the following documents:

• ncomms2135.pdf

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Unexpected tolerance of alpha-cleavage of the prion protein to sequence variations.

Plos One

Oliveira-Martins, José B JB; Yusa, Sei-ichi S; Calella, Anna Maria AM; Bridel, Claire C; Baumann, Frank F; Dametto, Paolo P; Aguzzi, Adriano A

Publication Date: 2010-02-08

Variant appearance in text: APP: D177N

PubMed Link: 20161712

Variant Present in the following documents:

• Main text

View BVdb publication page

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