Publications:

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: T719N

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: T719N

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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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: T719N

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• 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: T719N

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: T719N

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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Discovery and validation of autosomal dominant Alzheimer's disease mutations.

Alzheimer'S Research & Therapy

Hsu, Simon S; Gordon, Brian A BA; Hornbeck, Russ R; Norton, Joanne B JB; Levitch, Denise D; Louden, Adia A; Ziegemeier, Ellen E; Laforce, Robert R; Chhatwal, Jasmeer J; Day, Gregory S GS; McDade, Eric E; Morris, John C JC; Fagan, Anne M AM; Benzinger, Tammie L S TLS; Goate, Alison M AM; Cruchaga, Carlos C; Bateman, Randall J RJ; , ; Karch, Celeste M CM

Publication Date: 2018-07-18

Variant appearance in text: APP: T719N

PubMed Link: 30021643

Variant Present in the following documents:

• Main text
• 13195_2018_Article_392.pdf

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Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

Journal Of Alzheimer'S Disease : Jad

Scahill, Rachael I RI; Ridgway, Gerard R GR; Bartlett, Jonathan W JW; Barnes, Josephine J; Ryan, Natalie S NS; Mead, Simon S; Beck, Jonathan J; Clarkson, Matthew J MJ; Crutch, Sebastian J SJ; Schott, Jonathan M JM; Ourselin, Sebastien S; Warren, Jason D JD; Hardy, John J; Rossor, Martin N MN; Fox, Nick C NC

Publication Date: 2013

Variant appearance in text: APP: T719N

PubMed Link: 23380992

Variant Present in the following documents:

• Main text

View BVdb publication page

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