Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14-Reference-Cited by-同舟云学术

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

Published:2017-11-07 Issue:12 Volume:4 Page:859-864
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Stutterd Chloe¹²³⁴,Diakumis Peter⁵,Bahlo Melanie⁴⁵,Fanjul Fernandez Miriam¹²⁴,Leventer Richard J.³⁴⁶,Delatycki Martin¹²⁴,Amor David¹²³⁴,Chow Chung W.⁷,Stephenson Sarah¹⁴,Meisler Miriam H.⁸⁹,Mclean Catriona¹⁰,Lockhart Paul J.¹⁴

Affiliation:

1. Bruce Lefroy Centre for Genetic Health Research; Murdoch Childrens Research Institute; Parkville Victoria 3052 Australia

2. Victorian Clinical Genetics Service; Murdoch Childrens Research Institute; Parkville Victoria 3052 Australia

3. Department of Neurology; Royal Children's Hospital; Parkville Victoria 3052 Australia

4. Department of Paediatrics; The University of Melbourne; Parkville Victoria 3052 Australia

5. Walter and Eliza Hall Institute; Parkville Victoria 3052 Australia

6. Neuroscience Research Group; Murdoch Childrens Research Institute; Parkville Victoria 3052 Australia

7. Department of Pathology; Royal Children's Hospital; Parkville Victoria 3052 Australia

8. Department of Human Genetics; University of Michigan School of Medicine; Ann Arbor Michigan

9. Department of Neurology; University of Michigan School of Medicine; Ann Arbor Michigan

10. Anatomical Pathology; Alfred Hospital; Melbourne Victoria 3004 Australia

Funder

NHMRC Postgraduate Scholarship

Royal Children's Hospital/Murdoch Childrens Research Institute

Thyne Reid Foundation

Macquarie Foundation

NHMRC Program Grant

NHMRC Senior Research Fellowship

NHMRC Career Development Fellowship

Victorian Government's Operational Infrastructure Support Program

Australian Government National Health

Medical Research Council Independent Research Institute Infrastructure

U.S. Public Health Service

Melbourne Children's Clinician Scientist Fellowship

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Reference12 articles.

1. Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. Novel Sac phosphatase joins the ArPIKfyve-PIKfyve complex;Sbrissa;J Biol Chem,2007

2. The Vac14-interaction network is linked to regulators of the endolysosomal and autophagic pathway;Schulze;Mol Cell Proteomics,2014

3. VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse;Jin;EMBO J,2008

4. Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice;Zhang;Proc Natl Acad Sci USA,2007

5. Biallelic mutations of VAC14 in pediatric-onset neurological disease;Lenk;Am J Hum Genet,2016

Cited by 18 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. Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome;Genetics in Medicine Open;2024

2. Unmistakable Truncal Dystonia Mistaken as Psychogenic: A Case Report of VAC14‐Related Neurodegeneration;Movement Disorders Clinical Practice;2023-08

3. Phosphatidylinositol (3,5)-bisphosphate machinery regulates neurite thickness through neuron-specific endosomal protein NSG1/NEEP21;Journal of Biological Chemistry;2023-01

4. Autophagic lysosome reformation in health and disease;Autophagy;2022-11-21

5. Roles of PIKfyve in multiple cellular pathways;Current Opinion in Cell Biology;2022-06