DNAJC6 mutations associated with early-onset Parkinson's disease

Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P.M.A.; Saute, Jonas Alex Morales; Chien, Hsin Fen; Bouwkamp, Christian G.; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J.; Zhang, Jianguo; Verheijen, Frans W.; Mandemakers, Wim; Kievit, Anneke J.A.; Jardim, Laura Bannach; Barbosa, Egberto Reis; Rieder, Carlos Roberto de Mello; Leenders, Klaus L.; Wang, Jun; Bonifati, Vincenzo

doi:10.1016/j.parkreldis.2015.10.604

Cited by 47 publications

(76 citation statements)

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“…While PARKIN does not have a direct yeast homolog, a related ubiquitin ligase in yeast, Cdc4 (FBXW7)(Ivatt et al 2014; Ekholm-Reed et al 2013), was recovered in our genetic screens. A third PARK gene, DNAJC6 (PARK19) (Köroğlu et al 2013; Olgiati et al 2015; Edvardson et al 2012), was recovered in the spatial map. DNAJC6 is also known as an auxilin, and is a chaperone involved in clathrin uncoating.…”

Section: Resultsmentioning

confidence: 99%

In Situ Peroxidase Labeling and Mass-Spectrometry Connects Alpha-Synuclein Directly to Endocytic Trafficking and mRNA Metabolism in Neurons

et al. 2017

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Synucleinopathies, including Parkinson’s disease (PD), are associated with the misfolding and mistrafficking of alpha-synuclein (α-syn). Here, using an ascorbate peroxidase (APEX)-based labeling method combined with mass spectrometry, we defined a network of proteins in the immediate vicinity of α-syn in living neurons to shed light on α-syn function. This approach identified 225 proteins, including synaptic proteins, proteins involved in endocytic vesicle trafficking, the retromer complex, phosphatases and mRNA binding proteins. Many were in complexes with α-syn, and some were encoded by genes known to be risk factors for PD and other neurodegenerative diseases. Endocytic trafficking and mRNA translation proteins within this spatial α-syn map overlapped with genetic modifiers of α-syn toxicity, developed in an accompanying study (Khurana et al, 2016). Our data suggest that perturbation of these particular pathways is directly related to the spatial localization of α-syn within the cell. These approaches provide new avenues to systematically examine protein function and pathology in living cells.

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Section: Resultsmentioning

confidence: 99%

In Situ Peroxidase Labeling and Mass-Spectrometry Connects Alpha-Synuclein Directly to Endocytic Trafficking and mRNA Metabolism in Neurons

et al. 2017

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“…112,113 HACE1 not only functions as an E3 ubiquitin ligase but also represses the transcriptional activity of retinoic acid receptors and, hence, downstream pathways that are involved in a range of cellular processes including neuronal differentiation/regeneration and stimulation of neurite outgrowth. [118][119][120] Genes involved in postsynaptic cell signalling GNB1 mutations have been recently identified in patients with childhood or adolescence-onset epilepsy, neurodevelopmental delay, tics, hypotonia, dystonia, ataxia, and intermittent action-induced myoclonus. Mutations in WDR45 cause beta-propeller protein-associated neurodegeneration, a subtype of neurodegeneration with brain iron accumulation.…”

Section: Genes Encoding Transportersmentioning

confidence: 99%

The expanding spectrum of movement disorders in genetic epilepsies

Papandreou

Danti

Spaull

et al. 2019

Develop Med Child Neuro

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An ever‐increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the ‘genetic epilepsy‐dyskinesia’ spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease‐specific management strategies in a timely fashion. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. What this paper adds Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required.

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“…Levodopa‐induced visual hallucinations have been reported in 3 patients with this genetic condition . One presented psychotic disturbances at disease onset at the age of 21 years.…”

Section: Resultsmentioning

confidence: 99%

Nosology and Phenomenology of Psychosis in Movement Disorders

Rossi

Farcy

Starkstein

et al. 2020

Movement Disord Clin Pract

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Background Background: Psychotic symptoms, such as delusions and hallucinations, are part of the clinical picture of several conditions presenting movement disorders. Phenomenology and epidemiology of psychosis in Parkinson's disease have received wide attention; however, the presence of psychosis in other movement disorders is, comparatively, less well known. Objectives Objectives: To review psychotic symptoms present in different movement disorders. Methods Methods: A comprehensive and structured literature search was performed to identify and analyze data on patients with movement disorders and comorbid psychosis.

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DNAJC6 mutations associated with early-onset Parkinson's disease

Cited by 47 publications

References 0 publications

In Situ Peroxidase Labeling and Mass-Spectrometry Connects Alpha-Synuclein Directly to Endocytic Trafficking and mRNA Metabolism in Neurons

In Situ Peroxidase Labeling and Mass-Spectrometry Connects Alpha-Synuclein Directly to Endocytic Trafficking and mRNA Metabolism in Neurons

The expanding spectrum of movement disorders in genetic epilepsies

Nosology and Phenomenology of Psychosis in Movement Disorders

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