Publications:

AmazonForest: In Silico Metaprediction of Pathogenic Variants.

Biology

Palheta, Helber Gonzales Almeida HGA; Gonçalves, Wanderson Gonçalves WG; Brito, Leonardo Miranda LM; Dos Santos, Arthur Ribeiro AR; Dos Reis Matsumoto, Marlon M; Ribeiro-Dos-Santos, Ândrea Â; de Araújo, Gilderlanio Santana GS

Publication Date: 2022-03-31

Variant appearance in text: APP: Ala235Val

PubMed Link: 35453737

Variant Present in the following documents:

• biology-11-00538.pdf

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An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo.

The Journal Of Experimental Medicine

Zhang, Xulun X; Zhang, Can Martin CM; Prokopenko, Dmitry D; Liang, Yingxia Y; Zhen, Sherri Y SY; Weigle, Ian Q IQ; Han, Weinong W; Aryal, Manish M; Tanzi, Rudolph E RE; Sisodia, Sangram S SS

Publication Date: 2021-06-07

Variant appearance in text: APP: A235V

PubMed Link: 33822840

Variant Present in the following documents:

• Main text
• JEM_20210313.pdf

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: APP: A235V

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
• nihms-1588025.pdf
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1

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Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.

Antioxidants & Redox Signaling

Peng, Yunhua Y; Gao, Peipei P; Shi, Le L; Chen, Lei L; Liu, Jiankang J; Long, Jiangang J

Publication Date: 2020-06-01

Variant appearance in text: APP: A235V

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

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Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease

Bi, Christopher C; Bi, Stephanie S; Li, Bin B

Publication Date: 2019-04

Variant appearance in text: APP: A235V

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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