Publications:

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Development of Small Molecules Targeting α-Synuclein Aggregation: A Promising Strategy to Treat Parkinson's Disease.

Pharmaceutics

Peña-Díaz, Samuel S; García-Pardo, Javier J; Ventura, Salvador S

Publication Date: 2023-03-03

Variant appearance in text: SNCA: E83Q

PubMed Link: 36986700

Variant Present in the following documents:

• Main text
• pharmaceutics-15-00839.pdf

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Opportunities and challenges of alpha-synuclein as a potential biomarker for Parkinson's disease and other synucleinopathies.

Npj Parkinson'S Disease

Magalhães, Pedro P; Lashuel, Hilal A HA

Publication Date: 2022-07-22

Variant appearance in text: SNCA: E83Q

PubMed Link: 35869066

Variant Present in the following documents:

• Main text
• 41531_2022_Article_357.pdf

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Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies.

Frontiers In Neurology

Nishioka, Kenya K; Imai, Yuzuru Y; Yoshino, Hiroyo H; Li, Yuanzhe Y; Funayama, Manabu M; Hattori, Nobutaka N

Publication Date: 2022

Variant appearance in text: SNCA: E83Q

PubMed Link: 35720097

Variant Present in the following documents:

• Main text
• fneur-13-764917.pdf

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Ultrastructural and biochemical classification of pathogenic tau, α-synuclein and TDP-43.

Acta Neuropathologica

Tarutani, Airi A; Adachi, Tadashi T; Akatsu, Hiroyasu H; Hashizume, Yoshio Y; Hasegawa, Kazuko K; Saito, Yuko Y; Robinson, Andrew C AC; Mann, David M A DMA; Yoshida, Mari M; Murayama, Shigeo S; Hasegawa, Masato M

Publication Date: 2022-06

Variant appearance in text: SNCA: E83Q

PubMed Link: 35513543

Variant Present in the following documents:

• Main text
• 401_2022_Article_2426.pdf

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A NAC domain mutation (E83Q) unlocks the pathogenicity of human alpha-synuclein and recapitulates its pathological diversity.

Science Advances

Kumar, Senthil T ST; Mahul-Mellier, Anne-Laure AL; Hegde, Ramanath Narayana RN; Rivière, Gwladys G; Moons, Rani R; Ibáñez de Opakua, Alain A; Magalhães, Pedro P; Rostami, Iman I; Donzelli, Sonia S; Sobott, Frank F; Zweckstetter, Markus M; Lashuel, Hilal A HA

Publication Date: 2022-04-29

Variant appearance in text: SNCA: E83Q

PubMed Link: 35486726

Variant Present in the following documents:

• Main text
• sciadv.abn0044.pdf

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Neuropathology and molecular diagnosis of Synucleinopathies.

Molecular Neurodegeneration

Koga, Shunsuke S; Sekiya, Hiroaki H; Kondru, Naveen N; Ross, Owen A OA; Dickson, Dennis W DW

Publication Date: 2021-12-18

Variant appearance in text: SNCA: E83Q

PubMed Link: 34922583

Variant Present in the following documents:

• 13024_2021_Article_501.pdf

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Neuropathology and molecular diagnosis of Synucleinopathies.

Molecular Neurodegeneration

Koga, Shunsuke S; Sekiya, Hiroaki H; Kondru, Naveen N; Ross, Owen A OA; Dickson, Dennis W DW

Publication Date: 2021-12-18

Variant appearance in text: SNCA: E83Q

PubMed Link: 34922583

Variant Present in the following documents:

• 13024_2021_Article_501.pdf

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A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Parkinsonism & Related Disorders

Fevga, Christina C; Park, Yangshin Y; Lohmann, Ebba E; Kievit, Anneke J AJ; Breedveld, Guido J GJ; Ferraro, Federico F; de Boer, Leon L; van Minkelen, Rick R; Hanagasi, Hasmet H; Boon, Agnita A; Wang, Wei W; Petsko, Gregory A GA; Hoang, Quyen Q QQ; Emre, Murat M; Bonifati, Vincenzo V

Publication Date: 2021-08

Variant appearance in text: SNCA: Glu83Gln

PubMed Link: 34229155

Variant Present in the following documents:

• Main text

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α-Synuclein Strains: Does Amyloid Conformation Explain the Heterogeneity of Synucleinopathies?

Biomolecules

Hoppe, Simon Oliver SO; Uzunoğlu, Gamze G; Nussbaum-Krammer, Carmen C

Publication Date: 2021-06-23

Variant appearance in text: SNCA: E83Q

PubMed Link: 34201558

Variant Present in the following documents:

• Main text
• biomolecules-11-00931.pdf

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A novel SNCA E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration.

Neuropathology : Official Journal Of The Japanese Society Of Neuropathology

Kapasi, Alifiya A; Brosch, Jared R JR; Nudelman, Kelly N KN; Agrawal, Sonal S; Foroud, Tatiana M TM; Schneider, Julie A JA

Publication Date: 2020-12

Variant appearance in text: SNCA: E83Q

PubMed Link: 32786148

Variant Present in the following documents:

• Main text

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