HP c.721_722delinsGC ;(p.N241A)

Variant ID: 16-72094289-AA-GC

NM_005143.3(HP):c.721_722delinsGC;(p.N241A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Evaluation of Current Methods to Detect Cellular Leucine-Rich Repeat Kinase 2 (LRRK2) Kinase Activity.

Journal Of Parkinson'S Disease
Fernández, Belén B; Chittoor-Vinod, Vinita G VG; Kluss, Jillian H JH; Kelly, Kaela K; Bryant, Nicole N; Nguyen, An Phu Tran APT; Bukhari, Syed A SA; Smith, Nathan N; Lara Ordóñez, Antonio Jesús AJ; Fdez, Elena E; Chartier-Harlin, Marie-Christine MC; Montine, Thomas J TJ; Wilson, Mark A MA; Moore, Darren J DJ; West, Andrew B AB; Cookson, Mark R MR; Nichols, R Jeremy RJ; Hilfiker, Sabine S
Publication Date: 2022

Variant appearance in text: HP: N241A
PubMed Link: 35599495
Variant Present in the following documents:
  • Main text
  • jpd-12-jpd213128.pdf
View BVdb publication page



PINK1-dependent phosphorylation of Serine111 within the SF3 motif of Rab GTPases impairs effector interactions and LRRK2-mediated phosphorylation at Threonine72.

The Biochemical Journal
Vieweg, Sophie S; Mulholland, Katie K; Bräuning, Bastian B; Kachariya, Nitin N; Lai, Yu-Chiang YC; Toth, Rachel R; Singh, Pawan Kishor PK; Volpi, Ilaria I; Sattler, Michael M; Groll, Michael M; Itzen, Aymelt A; Muqit, Miratul M K MMK
Publication Date: 2020-05-15

Variant appearance in text: HP: N241A
PubMed Link: 32227113
Variant Present in the following documents:
  • Main text
  • BCJ-477-1651.pdf
View BVdb publication page



Increase in anti-apoptotic molecules, nucleolin, and heat shock protein 70, against upregulated LRRK2 kinase activity.

Animal Cells And Systems
Jang, Jihoon J; Oh, Hakjin H; Nam, Daleum D; Seol, Wongi W; Seo, Mi Kyoung MK; Park, Sung Woo SW; Kim, Hyung Gun HG; Seo, Hyemyung H; Son, Ilhong I; Ho, Dong Hwan DH
Publication Date: 2018

Variant appearance in text: HP: N241A
PubMed Link: 30460108
Variant Present in the following documents:
  • tacs-22-1518262.pdf
View BVdb publication page



Parkinson's Disease-Associated LRRK2 Hyperactive Kinase Mutant Disrupts Synaptic Vesicle Trafficking in Ventral Midbrain Neurons.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Pan, Ping-Yue PY; Li, Xianting X; Wang, Jing J; Powell, James J; Wang, Qian Q; Zhang, Yuanxi Y; Chen, Zhaoyu Z; Wicinski, Bridget B; Hof, Patrick P; Ryan, Timothy A TA; Yue, Zhenyu Z
Publication Date: 2017-11-22

Variant appearance in text: HP: N241A
PubMed Link: 29054882
Variant Present in the following documents:
  • Main text
View BVdb publication page