Publications:

Structural basis for Parkinson's disease-linked LRRK2's binding to microtubules.

Nature Structural & Molecular Biology

Snead, David M DM; Matyszewski, Mariusz M; Dickey, Andrea M AM; Lin, Yu Xuan YX; Leschziner, Andres E AE; Reck-Peterson, Samara L SL

Publication Date: 2022-12-12

Variant appearance in text: LRRK2: R1501W

PubMed Link: 36510024

Variant Present in the following documents:

• Main text
• 41594_2022_863_MOESM3_ESM.pdf
• 41594_2022_Article_863.pdf

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Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

The Biochemical Journal

Kalogeropulou, Alexia F AF; Purlyte, Elena E; Tonelli, Francesca F; Lange, Sven M SM; Wightman, Melanie M; Prescott, Alan R AR; Padmanabhan, Shalini S; Sammler, Esther E; Alessi, Dario R DR

Publication Date: 2022-09-16

Variant appearance in text: LRRK2: R1501W

PubMed Link: 35950872

Variant Present in the following documents:

• Main text
• BCJ-479-1759.pdf

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: LRRK2: R1501W; rs780894154

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 2

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Precision medicine in Parkinson's disease patients with LRRK2 and GBA risk variants - Let's get even more personal.

Translational Neurodegeneration

von Linstow, Christian U CU; Gan-Or, Ziv Z; Brundin, Patrik P

Publication Date: 2020-10-16

Variant appearance in text: LRRK2: R1501W

PubMed Link: 33066808

Variant Present in the following documents:

• 40035_2020_Article_218.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: LRRK2: R1501W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

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