The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

α-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9)

(2015) Guillaume Daniel et al.   NEUROBIOLOGY OF DISEASE

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

(2014) A. Simonati et al.   CURRENT MOLECULAR MEDICINE

Parkinson's disease-linked human PARK9/ATP13A2 maintains zinc homeostasis and promotes α-Synuclein externalization via exosomes

(2014) Stephanie M.Y. Kong et al.   HUMAN MOLECULAR GENETICS

Parkinson's disease-associated human ATP13A2 (PARK9) deficiency causes zinc dyshomeostasis and mitochondrial dysfunction

(2014) Jin-Sung Park et al.   HUMAN MOLECULAR GENETICS

Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features

(2014) Maryam Malakouti-Nejad et al.   NEUROSCIENCE LETTERS

ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons

(2013) Hideaki Matsui et al.   FEBS LETTERS

Zn2+ dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation

(2013) Taiji Tsunemi et al.   HUMAN MOLECULAR GENETICS

Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome

(2013) Alessandro Malandrini et al.   MOVEMENT DISORDERS

ATP13A2 (PARK9) protein levels are reduced in brain tissue of cases with Lewy bodies

(2013) Karen E Murphy et al.   Acta Neuropathologica Communications

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Deficiency of ATP13A2 Leads to Lysosomal Dysfunction,  -Synuclein Accumulation, and Neurotoxicity

(2012) M. Usenovic et al.   JOURNAL OF NEUROSCIENCE

Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants

(2012) Jason P. Covy et al.   JOURNAL OF NEUROSCIENCE RESEARCH

ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome

(2012) Anne Grünewald et al.   NEUROBIOLOGY OF AGING

Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

(2012) Agata Podhajska et al.   PLoS One

Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration

(2012) B. Dehay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ATP13A2 variability in Taiwanese Parkinson's disease

(2011) Chiung-Mei Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

(2011) H Eiberg et al.   CLINICAL GENETICS

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

(2011) Choong Yi Fong et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death

(2011) Janet Ugolino et al.   HUMAN MOLECULAR GENETICS

PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity

(2011) David Ramonet et al.   HUMAN MOLECULAR GENETICS

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

(2011) Jin-Sung Park et al.   HUMAN MUTATION

Regulation of Intracellular Manganese Homeostasis by Kufor-Rakeb Syndrome-associated ATP13A2 Protein

(2011) Jieqiong Tan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Patterns of levels of biological metals in CSF differ among neurodegenerative diseases

(2011) Isao Hozumi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation

(2011) Hsin Fen Chien et al.   MOVEMENT DISORDERS

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

(2011) Fabiana H.G. Farias et al.   NEUROBIOLOGY OF DISEASE

ATP13A2 regulates mitochondrial bioenergetics through macroautophagy

(2011) Aaron M. Gusdon et al.   NEUROBIOLOGY OF DISEASE

Motor pathway excitability in ATP13A2 mutation carriers: A transcranial magnetic stimulation study

(2011) S. Zittel et al.   PARKINSONISM & RELATED DISORDERS

A One Base Pair Deletion in the Canine ATP13A2 Gene Causes Exon Skipping and Late-Onset Neuronal Ceroid Lipofuscinosis in the Tibetan Terrier

(2011) Anne Wöhlke et al.   PLoS Genetics

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

(2010) A. S. Al-Din et al.   ACTA NEUROLOGICA SCANDINAVICA

Recessively Inherited Parkinsonism

(2010) Norbert Brüggemann et al.   ARCHIVES OF NEUROLOGY

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

(2010) Coro Paisán-Ruiz et al.   MOVEMENT DISORDERS

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

(2010) Maria I. Behrens et al.   MOVEMENT DISORDERS

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

(2010) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease

(2010) Lena Kertelge et al.   MOVEMENT DISORDERS

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

(2010) Lucio Santoro et al.   NEUROGENETICS

Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2

(2010) H. Mortiboys et al.   NEUROLOGY

Lack of association between ATP13A2 Ala746Thr variant and Parkinson's disease in Han population of mainland China

(2010) Qing-Zhou Fei et al.   NEUROSCIENCE LETTERS

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

(2010) David Crosiers et al.   PARKINSONISM & RELATED DISORDERS

DJ-1 is critical for mitochondrial function and rescues PINK1 loss of function

(2010) L.-Y. Hao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cd2+, Mn2+, Ni2+ and Se2+ toxicity to Saccharomyces cerevisiae lacking YPK9p the orthologue of human ATP13A2

(2009) Karyn Schmidt et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

ATP13A2variants in early-onset Parkinson's disease patients and controls

(2009) Ana Djarmati et al.   MOVEMENT DISORDERS

α-Synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

(2009) Aaron D Gitler et al.   NATURE GENETICS

ATP13A2 G2236A variant is rare in patients with early-onset Parkinson's disease and familial Parkinson's disease from mainland China

(2009) X.-Y. Mao et al.   PARKINSONISM & RELATED DISORDERS

Neuronal ceroid lipofuscinoses

(2008) Anu Jalanko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

ATP13A2variability in Parkinson disease

(2008) Carles Vilariño-Güell et al.   HUMAN MUTATION

Genetic association study of the P-type ATPaseATP13A2in late-onset Parkinson's disease

(2008) Aleksandar Rakovic et al.   MOVEMENT DISORDERS

Mutation analysis ofParkin,PINK1,DJ-1andATP13A2genes in Chinese patients with autosomal recessive early-onset Parkinsonism

(2008) Ji-Feng Guo et al.   MOVEMENT DISORDERS

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore

(2008) C. H. Lin et al.   NEUROLOGY

PARK9-LINKED PARKINSONISM IN EASTERN ASIA: MUTATION DETECTION IN ATP13A2 AND CLINICAL PHENOTYPE

(2008) Y. P. Ning et al.   NEUROLOGY