Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome-Reference-Cited by-同舟云学术

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Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome

Published:2020-08 Issue: Volume:77 Page:110-113
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Čierny Marek,Hooshmand Sam I,Fee Dominic,Tripathi Swarnendu,Dsouza Nikita R.,La Pean Kirschner Alison,Zimmermann Michael T.,Brennan Ryan

Funder

Medical College of Wisconsin

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference13 articles.

1. Establishing diagnostic criteria for Perry syndrome;Mishima;J. Neurol. Neurosurg. Psychiatry,2018

2. Three families with Perry syndrome from distinct parts of the world;Tacik;Park. Relat. Disord.,2014

3. Dynactin subunit p150Glued is a neuron-specific anti-catastrophe factor;Lazarus;PLoS Biol.,2013

4. p150glued deficiency impairs effective fusion between autophagosomes and lysosomes due to their redistribution to the cell periphery;Ishikawa;Neurosci. Lett.,2019

5. DCTN1-related neurodegeneration: Perry syndrome and beyond;Konno;Park. Relat. Disord.,2017

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mechanisms of autophagy–lysosome dysfunction in neurodegenerative diseases;Nature Reviews Molecular Cell Biology;2024-08-06

2. Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease;Parkinsonism & Related Disorders;2023-07

3. Cross-talk between traditional Chinese medicine and Parkinson's disease based on cell autophagy;Pharmacological Research - Modern Chinese Medicine;2023-06

4. A Chinese pedigree with Perry disease caused by the p.Y78H mutation in DCTN1: A 6-year clinical follow-up;Behavioural Brain Research;2023-03

5. Behavioral profile in a Dctn1G71A knock-in mouse model of Perry disease;Neuroscience Letters;2021-11

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