Publications:

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The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.

Plos One

Guyon, Antoine A; Rousseau, Joël J; Lamothe, Gabriel G; Tremblay, Jacques P JP

Publication Date: 2020

Variant appearance in text: APP: H677R

PubMed Link: 33370284

Variant Present in the following documents:

• Main text
• pone.0237122.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: H677R

PubMed Link: 32087291

Variant Present in the following documents:

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

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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: H677R

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: H677R

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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Modeling Alzheimer's Disease by Induced Pluripotent Stem Cells Carrying APP D678H Mutation.

Molecular Neurobiology

Chang, Kuo-Hsuan KH; Lee-Chen, Guey-Jen GJ; Huang, Ching-Chang CC; Lin, Jia-Li JL; Chen, Yi-Jing YJ; Wei, Pei-Chi PC; Lo, Yen-Shi YS; Yao, Chin-Fa CF; Kuo, Ming-Wei MW; Chen, Chiung-Mei CM

Publication Date: 2019-06

Variant appearance in text: APP: H677R

PubMed Link: 30238389

Variant Present in the following documents:

• Main text
• 12035_2018_Article_1336.pdf

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Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.

Current Medicinal Chemistry

Rozpedek, Wioletta W; Markiewicz, Lukasz L; Diehl, J Alan JA; Pytel, Dariusz D; Majsterek, Ireneusz I

Publication Date: 2015

Variant appearance in text: APP: H677R

PubMed Link: 26282939

Variant Present in the following documents:

• Main text

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Early onset Alzheimer's disease and oxidative stress.

Oxidative Medicine And Cellular Longevity

Meraz-Ríos, Marco Antonio MA; Franco-Bocanegra, Diana D; Toral Rios, Danira D; Campos-Peña, Victoria V

Publication Date: 2014

Variant appearance in text: APP: H677R

PubMed Link: 24669286

Variant Present in the following documents:

• Main text
• OMCL2014-375968.pdf

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Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Weggen, Sascha S; Beher, Dirk D

Publication Date: 2012-03-30

Variant appearance in text: APP: H677R

PubMed Link: 22494386

Variant Present in the following documents:

• Main text

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Knockdown of BACE1-AS Nonprotein-Coding Transcript Modulates Beta-Amyloid-Related Hippocampal Neurogenesis.

International Journal Of Alzheimer'S Disease

Modarresi, Farzaneh F; Faghihi, Mohammad Ali MA; Patel, Nikunj S NS; Sahagan, Barbara G BG; Wahlestedt, Claes C; Lopez-Toledano, Miguel A MA

Publication Date: 2011

Variant appearance in text: APP: H677R

PubMed Link: 21785702

Variant Present in the following documents:

• IJAD2011-929042.pdf

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