Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation-Reference-Cited by-同舟云学术

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Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation

Published:2018-08-14 Issue:3 Volume:8 Page:399-403
ISSN:1877-7171
Container-title:Journal of Parkinson's Disease
language:
Short-container-title:JPD

Author:

Inzelberg Rivka¹,Estrada-Cuzcano Alejandro²,Laitman Yael³,De Vriendt Els²,Friedman Eitan⁴³,Jordanova Albena²

Affiliation:

1. Departments of Neurology and Neurosurgery, Tel Aviv University, Tel Aviv, Israel

2. Molecular Neurogenomics Group, VIB Center for Molecular Neurology, University of Antwerp, Antwerpen, Belgium

3. The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel

4. Departments of Internal Medicine and Genetics and Biochemistry Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

Publisher

IOS Press

Subject

Cellular and Molecular Neuroscience,Neurology (clinical)

Reference17 articles.

1. ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting andproteostasis through a novel PI(3, 5)P2-mediated scaffoldingfunction.;Demirsoy;Hum Mol Genet,2017

2. Loss-of-function mutations in the ATP13A2/PARK9 gene causecomplicated hereditary spastic paraplegia (SPG78).;Estrada-Cuzcano;Brain,2017

3. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.;Ramirez;Nat Genet,2006

4. The role of ATP13A2 in Parkinson’s disease: Clinical phenotypes and molecular mechanisms.;Park;Mov Disord,2015

5. Recessively inherited parkinsonism: Effect of ATP13A2 mutations on the clinicaland neuroimaging phenotype.;Bruggemann;Arch Neurol,2010

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1. ATP13A2 activates the pentose phosphate pathway to promote colorectal cancer growth though TFEB‐PGD axis;Clinical and Translational Medicine;2023-05

2. The Roles of ATP13A2 Gene Mutations Leading to Abnormal Aggregation of α-Synuclein in Parkinson’s Disease;Frontiers in Cellular Neuroscience;2022-07-06

3. Demystifying the spontaneous phenomena of motor hyperexcitability;Clinical Neurophysiology;2021-08

4. ATP13A2 Gene Variants in Patients with Parkinson’s Disease in Xinjiang;BioMed Research International;2020-11-30

5. Molecular targets and therapeutic interventions for iron induced neurodegeneration;Brain Research Bulletin;2020-03

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