Publications:

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: P620A

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: P620A

PubMed Link: 32087291

Variant Present in the following documents:

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

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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: P620A

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: P620A

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment

Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: APP: P620A

PubMed Link: 30510423

Variant Present in the following documents:

• Main text
• ndt-14-3015.pdf

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