Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.

Kufor-Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case Report.

C-Myc Indirectly Controls ATP13A2 Levels via HIF-1α Activation.

Phenotypic characterization of an Atp13a2 knockout rat model of Parkinson's disease.

Lysosomal polyamine storage upon ATP13A2 loss impairs β-glucocerebrosidase via altered lysosomal pH and electrostatic hydrolase-lipid interactions.

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.

Nigral ATP13A2 depletion induces Parkinson's disease-related neurodegeneration in a pilot study in non-human primates.

Adult-onset deletion of ATP13A2 in mice induces progressive nigrostriatal pathway dopaminergic degeneration and lysosomal abnormalities.

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.

A novel ATP13A2 variant causing complicated hereditary spastic paraplegia.

ATP13A2 (PARK9) and basal ganglia function.

Neurodegeneration with Brain Iron Accumulation Disorders and Retinal Neurovascular Structure.

Olfactory status in neurodegeneration with brain iron accumulation disorders.

Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum.

Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations.

Parkinson's disease-associated ATP13A2/PARK9 functions as a lysosomal H+,K+-ATPase.

P5-ATPases: Structure, substrate specificities, and transport mechanisms.

ATP13A2 Gene Silencing in Drosophila Affects Autophagic Degradation of A53T Mutant α-Synuclein.

ATP13A2 modifies mitochondrial localization of overexpressed TOM20 to autolysosomal pathway.

Kufor Rakeb Syndrome with Novel Mutation and the Role of Deep Brain Stimulation.

Teaching Video NeuroImage: Facial-Faucial-Finger Myoclonus in Kufor-Rakeb Syndrome.

Structural mechanisms for gating and ion selectivity of the human polyamine transporter ATP13A2.

Neuropathologic Findings in a Patient With Juvenile-Onset Levodopa-Responsive Parkinsonism Due to ATP13A2 Mutation.

Pallidal degenerations and related disorders: an update.

Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.

ATP13A2 Regulates Cellular α-Synuclein Multimerization, Membrane Association, and Externalization.

Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia.

Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay.

Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia.

Astrocytes Protect Human Dopaminergic Neurons from α-Synuclein Accumulation and Propagation.

Phenotypic assays in yeast and zebrafish reveal drugs that rescue ATP13A2 deficiency.

Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.

Degeneration of dopaminergic neurons and impaired intracellular trafficking in Atp13a2 deficient zebrafish.

Dysregulated iron metabolism in C. elegans catp-6/ATP13A2 mutant impairs mitochondrial function.

ATP13A2 deficiency disrupts lysosomal polyamine export.

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.

Kufor-Rakeb Syndrome/ Parkinson Disease Type 9.

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome.

Overexpression of human Atp13a2Isoform-1 protein protects cells against manganese and starvation-induced toxicity.

Yeast as a Tool for Deeper Understanding of Human Manganese-Related Diseases.

Successful treatment of psychosis in a patient with Kufor-Rakeb syndrome with low dose aripiprazole: a case report.

From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations.

The Parkinson-associated human P5B-ATPase ATP13A2 modifies lipid homeostasis.

Increased Lysosomal Exocytosis Induced by Lysosomal Ca2+ Channel Agonists Protects Human Dopaminergic Neurons from α-Synuclein Toxicity.

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.

Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

ATP13A2 facilitates HDAC6 recruitment to lysosome to promote autophagosome-lysosome fusion.

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

Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.

Siblings with unusual presentation of early onset Parkinson's disease with dual heterozygous PARK2 and PARK 9 mutation.

Overlapping expression patterns and functions of three paralogous P5B ATPases in Caenorhabditis elegans.

Exacerbation of sensorimotor dysfunction in mice deficient in Atp13a2 and overexpressing human wildtype alpha-synuclein.

Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.

Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers.

The strategic function of the P5-ATPase ATP13A2 in toxic waste disposal.

Lysosomal defects in ATP13A2 and GBA associated familial Parkinson's disease.

The effect of manganese exposure in Atp13a2-deficient mice.

ATP13A2/PARK9 regulates endo-/lysosomal cargo sorting and proteostasis through a novel PI(3, 5)P2-mediated scaffolding function.

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Lysosomal Storage of Subunit c of Mitochondrial ATP Synthase in Brain-Specific Atp13a2-Deficient Mice.

Poster 298 Ataxia and Dysarthria in Two Siblings with Kufor-Rakeb Syndrome: A Case Report.

Endolysosomal dysfunction in Parkinson's disease: Recent developments and future challenges.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

[GENETICALLY DETERMINED DISEASES ASSOCIATED WITH PATHOLOGICAL BRAIN IRON ACCUMULATION AND NEURODEGENERATION].

Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation.

Protection against Mitochondrial and Metal Toxicity Depends on Functional Lipid Binding Sites in ATP13A2.

Loss of ATP13A2 impairs glycolytic function in Kufor-Rakeb syndrome patient-derived cell models.

Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.

Regulation of ATP13A2 via PHD2-HIF1α Signaling Is Critical for Cellular Iron Homeostasis: Implications for Parkinson's Disease.

Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.

A lipid switch unlocks Parkinson's disease-associated ATP13A2.

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.

First Report of Kufor-Rakeb Syndrome (PARK 9) from India, and a Novel Nonsense Mutation in ATP13A2 Gene.

The Parkinson-associated human P5B-ATPase ATP13A2 protects against the iron-induced cytotoxicity.

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

α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.