Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The responsible gene ATP13A2 was also associated with hereditary spastic paraplegia, uncomplicated early - or late-onset parkinsonism and a form of neuronal ceroid lipofuscinosis.
|
31588715 |
2019 |
Parkinsonian Disorders
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Erroneously polarized distributions of cargos such as metals and lipids on each side of lysosomal membranes triggered by gene mutations and deregulated expression of ATP13A2 may thus instigate sensing protein structural changes such as aggregations, organelle degeneration, and specific neuronal ageing and death in Parkinsonism.
|
27997702 |
2017 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.
|
26965689 |
2017 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
ATP13A2, which is mutated in some types of early-onset Parkinsonism, has been suggested as a regulator of the autophagy-lysosome pathway.
|
27278822 |
2016 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Kufor-Rakeb syndrome (KRS) is an autosomal recessive form of early-onset parkinsonism linked to the PARK9 locus.
|
27770614 |
2016 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
We recently described a new mouse model of parkinsonism in which loss of the endolysosomal protein Atp13a2 causes behavioral, neuropathological, and biochemical changes similar to those present in human subjects with ATP13A2 mutations.
|
27619535 |
2016 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The importance of ATP13A2 (PARK9) in Parkinson's disease (PD) has emerged with the discovery that mutations in this gene cause Kufor-Rakeb syndrome, an autosomal recessive, juvenile-onset form of parkinsonism associated with the additional clinical triad of spasticity, supranuclear gaze palsy, and dementia.
|
25900096 |
2015 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The present study also establishes that G2019S mutation leads to a reduction in lysosomal pH and increased expression of the lysosomal ATPase ATP13A2, a gene linked to a parkinsonian syndrome (Kufor-Rakeb syndrome), in brain samples from mouse and human LRRK2 G2019S carriers.
|
26251043 |
2015 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in ATP13A2 (PARK9) cause Kufor-Rakeb syndrome (KRS) characterized by juvenile-onset parkinsonism, pyramidal signs and dementia.
|
24334770 |
2014 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We also discuss another ATP13A2 mutation that is associated with the family of neurodegenerative disorders called neuronal ceroid lipofuscinoses (NCLs), and we propose a single pathway whereby ATP13A2 mutations may contribute to NCLs and Parkinsonism.
|
25197640 |
2014 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Kufor-Rakeb syndrome (KRS) is caused by loss-of-function mutations in ATP13A2 (PARK9) and characterized by juvenile-onset parkinsonism, pyramidal signs, and cognitive decline.
|
25392495 |
2014 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
CTD_human |
Low doses of paraquat and polyphenols prolong life span and locomotor activity in knock-down parkin Drosophila melanogaster exposed to oxidative stress stimuli: implication in autosomal recessive juvenile parkinsonism.
|
23046578 |
2013 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in ATP13A2 (PARK9) cause an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia called Kufor-Rakeb Syndrome (KRS).
|
22885599 |
2012 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Recently, homozygous and heterozygous missense mutations in ATP13A2 have been identified in subjects with early-onset parkinsonism.
|
22768177 |
2012 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the human homolog of YPK9, ATP13A2/PARK9, have been linked to genetic forms of early onset parkinsonism.
|
22457822 |
2012 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Because several other parkinsonism-associated proteins have been connected to mitochondrial function and mitophagy, we studied the impact of endogenous mutations in ATPase type 13A2 (ATP13A2) on mitochondria in fibroblasts from KRS patients compared with controls.
|
22296644 |
2012 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in lysosomal membrane protein ATP13A2 (PARK9) cause familial Kufor-Rakeb syndrome characterized by early-onset parkinsonism, pyramidal degeneration and dementia.
|
22442086 |
2012 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Our results indicate that ATP13A2 mutations are a rare cause of both NBIA and dystonia-parkinsonism.
|
22743658 |
2012 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.
|
21665991 |
2011 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset neurodegenerative diseases with overlapping phenotypes, including levodopa-responsive parkinsonism, pyramidal disturbances, cognitive decline, and supranuclear gaze disturbance.
|
20853184 |
2011 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the ATP13A2 gene are associated with Kufor-Rakeb syndrome (KRS) and are found also in patients with various other types of parkinsonism.
|
21724849 |
2011 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Kufor-Rakeb syndrome (KRS) is a rare form of autosomal recessive juvenile or early-onset, levodopa responsive parkinsonism and has been associated with mutations in ATP13A2(also known as PARK9), a lysosomal type 5 P-type ATPase.
|
21542062 |
2011 |
Parkinsonian Disorders
|
0.500 |
Biomarker
|
group |
BEFREE |
We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter.
|
20694531 |
2010 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Single ATP13A2 heterozygous mutations may be associated with clinical signs of parkinsonism and contribute to structural and functional brain changes.
|
21060012 |
2010 |
Parkinsonian Disorders
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
|
20669327 |
2010 |