Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson’s Disease in Italian Patients

Parkinson’s disease (PD) represents the most common neurodegenerative movement disorder. We recently identified 16 novel genes associated with PD. In this study, we focused the attention on the common and rare variants identified in the lysosomal K + channel TMEM175. The study includes a detailed cl...

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Veröffentlicht in:	Molecular neurobiology 2023-04, Vol.60 (4), p.2150-2173
Hauptverfasser:	Palomba, Nicole Piera, Fortunato, Giorgio, Pepe, Giuseppe, Modugno, Nicola, Pietracupa, Sara, Damiano, Immacolata, Mascio, Giada, Carrillo, Federica, Di Giovannantonio, Luca Giovanni, Ianiro, Laura, Martinello, Katiuscia, Volpato, Viola, Desiato, Vincenzo, Acri, Riccardo, Storto, Marianna, Nicoletti, Ferdinando, Webber, Caleb, Simeone, Antonio, Fucile, Sergio, Maglione, Vittorio, Esposito, Teresa
Format:	Artikel
Sprache:	eng
Schlagworte:	AKT protein Biomedical and Life Sciences Biomedicine Cell Biology Cerebral cortex Conserved sequence Dopamine receptors Dopaminergic Neurons - metabolism Fibroblasts Genes Genetic analysis Humans Immunoprecipitation Ion Channels - metabolism Lysosomes - metabolism Microglia Movement disorders Mutation Neurobiology Neurodegenerative diseases Neurodegenerative Diseases - metabolism Neurology Neurosciences Parkinson Disease - metabolism Parkinson's disease Potassium channels Potassium Channels - metabolism Potassium conductance Protein folding Proteolysis Substantia nigra
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