Publications:

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Identification of Two Early Folding Stage Prion Non-Local Contacts Suggested to Serve as Key Steps in Directing the Final Fold to Be Either Native or Pathogenic.

International Journal Of Molecular Sciences

Bergasa-Caceres, Fernando F; Rabitz, Herschel A HA

Publication Date: 2021-08-10

Variant appearance in text: CJD: I215V

PubMed Link: 34445324

Variant Present in the following documents:

• Main text
• ijms-22-08619.pdf

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Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2020-06-17

Variant appearance in text: CJD: I215V

PubMed Link: 32560489

Variant Present in the following documents:

• Main text

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First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle.

International Journal Of Molecular Sciences

Won, Sae-Young SY; Kim, Yong-Chan YC; Jeong, Byung-Hoon BH

Publication Date: 2020-06-15

Variant appearance in text: PRNP: I215V

PubMed Link: 32549191

Variant Present in the following documents:

• Main text
• ijms-21-04246.pdf

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Atomic insights into the effects of pathological mutants through the disruption of hydrophobic core in the prion protein.

Scientific Reports

Lee, Juhwan J; Chang, Iksoo I; Yu, Wookyung W

Publication Date: 2019-12-16

Variant appearance in text: CJD: I215V

PubMed Link: 31844149

Variant Present in the following documents:

• Main text
• 41598_2019_Article_55661.pdf

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Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019

Variant appearance in text: PRNP: Ile215Val

PubMed Link: 31410005

Variant Present in the following documents:

• Main text
• ndt-15-2003.pdf

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Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

International Journal Of Molecular Sciences

Bernardi, Livia L; Bruni, Amalia C AC

Publication Date: 2019-07-23

Variant appearance in text: CJD: Ile215Val

PubMed Link: 31340582

Variant Present in the following documents:

• Main text
• ijms-20-03606.pdf

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Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications

Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP

Publication Date: 2019-07-02

Variant appearance in text: PRNP: 643A>G; Ile215Val

PubMed Link: 31266935

Variant Present in the following documents:

• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3

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Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: CJD: I215V

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

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Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD

Publication Date: 2017-01

Variant appearance in text: PRNP: I215V

PubMed Link: 27943639

Variant Present in the following documents:

• Main text

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Lack of association of the M129V polymorphism of the PRNP gene with pseudoexfoliation syndrome.

Clinical Ophthalmology (Auckland, N.Z.)

Giannakopoulos, Marios P MP; Antonacopoulou, Anna G AG; Kottorou, Anastasia E AE; Kalofonos, Haralabos P HP; Gartaganis, Sotirios P SP

Publication Date: 2016

Variant appearance in text: PRNP: I215V

PubMed Link: 27217717

Variant Present in the following documents:

• opth-10-731.pdf

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Drivers: A Biologically Contextualized, Cross-Inferential View of the Epidemiology of Neurodegenerative Disorders.

Journal Of Alzheimer'S Disease : Jad

de Pedro-Cuesta, Jesús J; Martínez-Martín, Pablo P; Rábano, Alberto A; Alcalde-Cabero, Enrique E; José García López, Fernando F; Almazán-Isla, Javier J; Ruiz-Tovar, María M; Medrano, Maria-José MJ; Avellanal, Fuencisla F; Calero, Olga O; Calero, Miguel M

Publication Date: 2016

Variant appearance in text: PRNP: I215V

PubMed Link: 26923014

Variant Present in the following documents:

• Main text
• jad-51-jad150884.pdf

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Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Frontiers In Cellular Neuroscience

Calero, Miguel M; Gómez-Ramos, Alberto A; Calero, Olga O; Soriano, Eduardo E; Avila, Jesús J; Medina, Miguel M

Publication Date: 2015

Variant appearance in text: PRNP: I215V

PubMed Link: 25914626

Variant Present in the following documents:

• Main text
• fncel-09-00138.pdf

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Prediction of disease genes using tissue-specified gene-gene network.

Bmc Systems Biology

Ganegoda, Gamage G; Wang, JianXin J; Wu, Fang-Xiang FX; Li, Min M

Publication Date: 2014

Variant appearance in text: PRNP: I215V

PubMed Link: 25350876

Variant Present in the following documents:

• 1752-0509-8-S3-S3.pdf

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