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Movement disorders : official journal of the Movement Disorder Society, ISSN 0885-3185, 10/2016, Volume 31, Issue 10, pp. 1433 - 1443
Increasingly, genetic, cell biological, and in vivo work emphasizes the role of the endolysosomal system dysfunction in Parkinson’s disease (PD) pathogenesis.... 
Parkinson disease | Atp13a2 | Endolysosomal system | Kufor-Rakeb Syndrome
Journal Article
Movement Disorders, ISSN 0885-3185, 10/2016, Volume 31, Issue 10, pp. 1433 - 1443
Journal Article
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2011, Volume 45, Issue 3, pp. 962 - 972
Abstract Mitochondrial dysfunction and autophagy are centrally implicated in Parkinson's disease (PD). Mutations in ATP13A2 , which encodes a lysosomal P-type... 
Neurology | Recessive parkinsonism/ Parkinson's disease | Kufor–Rakeb syndrome | Autophagy | Mitochondrial quality control | Kufor-Rakeb syndrome | NEURODEGENERATIVE DISEASE | PROTEIN-ACTIVATING ENZYME | C DISEASE | MUCOLIPIDOSIS TYPE-IV | NEUROSCIENCES | CELL-DEATH | P-TYPE ATPASE | NEURONS | ENERGY-METABOLISM | PARKINSONS-DISEASE | Reactive Oxygen Species - metabolism | Microtubule-Associated Proteins - metabolism | Autophagy - physiology | Green Fluorescent Proteins - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Neuroblastoma | Membrane Potential, Mitochondrial - drug effects | Cerebral Cortex - cytology | Autophagy - drug effects | Proto-Oncogene Proteins c-bcl-2 - metabolism | Neurons - ultrastructure | Transfection | Adenosine Triphosphate - metabolism | Macrolides - pharmacology | Membrane Potential, Mitochondrial - genetics | Neurons - metabolism | Autophagy - genetics | Energy Metabolism - genetics | Energy Metabolism - physiology | Neurons - drug effects | Beclin-1 | H(+)-K(+)-Exchanging ATPase - metabolism | Mice, Inbred C57BL | RNA, Small Interfering - pharmacology | Cells, Cultured | Enzyme Inhibitors - pharmacology | Electroporation | H(+)-K(+)-Exchanging ATPase - genetics | Mutation - genetics | Apoptosis Regulatory Proteins - metabolism | Autophagy-Related Protein 7 | Animals | Oxygen Consumption - drug effects | Oxygen Consumption - genetics | Mice | Mitochondria - physiology | Energy Metabolism - drug effects | RNA, Small Interfering - metabolism | Mitochondrial DNA | Hydrogen peroxide | Parkinson's disease | Cells | Adenosine triphosphatase | mitochondrial quality control | autophagy | recessive parkinsonism
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 05/2013, Volume 22, Issue 10, pp. 2067 - 2082
Mutations in ATP13A2 (PARK9), encoding a lysosomal P-type ATPase, are associated with both KuforRakeb syndrome (KRS) and neuronal ceroid lipofuscinosis (NCL).... 
GLUCOCEREBROSIDASE | KUFOR-RAKEB-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | SUPRANUCLEAR UPGAZE PARESIS | ATP13A2 | ALPHA-SYNUCLEIN | MUTATIONS | PALLIDO-PYRAMIDAL DEGENERATION | CEREBROSPINAL-FLUID | CARDIAC LIPOFUSCIN | PARKINSONS-DISEASE
Journal Article
Journal Article
Journal Article
Journal Article