Results 101 to 110 of about 7,193 (199)

Endosomal dysfunction in iPSC-derived neural cells from Parkinson’s disease patients with VPS35 D620N

open access: yesMolecular Brain, 2020
Mutations in the Vacuolar protein sorting 35 (VPS35) gene have been linked to familial Parkinson’s disease (PD), PARK17. VPS35 is a key component of the retromer complex, which plays a central role in endosomal trafficking. However, whether and how VPS35
Keiko Bono   +5 more
doaj   +1 more source

Whole-Exome Sequencing in Familial Parkinson Disease [PDF]

open access: yes, 2016
IMPORTANCE: Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.
Boerwinkle, Eric   +25 more
core   +1 more source

The Mild Behavioral Impairment Checklist for Parkinson's Disease: An Ancillary Instrument in Cognitive Assessment

open access: yesMovement Disorders Clinical Practice, Volume 13, Issue 1, Page 108-119, January 2026.
Abstract Background Mild behavioral impairment (MBI) is a syndrome characterized by the later‐life onset of neuropsychiatric symptoms (NPS) and serves as a potential marker for dementia. In Parkinson's disease (PD), MBI has been associated with worse cognition, cortical atrophy, and altered connectivity.
Gabriel D. Pinilla‐Monsalve   +4 more
wiley   +1 more source

VPS35 regulates parkin substrate AIMP2 toxicity by facilitating lysosomal clearance of AIMP2 [PDF]

open access: yesCell Death & Disease, 2017
AbstractVacuolar protein sorting-associated protein 35 (VPS35) is involved in retrograde transport of proteins from endosomes to trans-Golgi network. Gene mutations in VPS35 are linked to autosomal dominant late-onset Parkinson’s disease (PD). Although the identification of VPS35 mutations has provided novel insight about its interactions with several ...
Seung Pil Yun   +8 more
openaire   +3 more sources

VPS35 dysfunction impairs lysosomal degradation of α-synuclein and exacerbates neurotoxicity in a Drosophila model of Parkinson's disease

open access: yesNeurobiology of Disease, 2014
Mutations in vacuolar protein sorting 35 (VPS35) have been linked to familial Parkinson's disease (PD). VPS35, a component of the retromer, mediates the retrograde transport of cargo from the endosome to the trans-Golgi network.
Emiko Miura   +14 more
doaj   +1 more source

Dysfunction of the autophagy/lysosomal degradation pathway is a shared feature of the genetic synucleinopathies. [PDF]

open access: yes, 2013
The past decade has witnessed huge advances in our understanding of the genetics underlying Parkinson's disease. Identifying commonalities in the biological function of genes linked to Parkinson's provides an opportunity to elucidate pathways that lead ...
Lewis, PA, Manzoni, C
core   +1 more source

Lack of Cerebrospinal Fluid α‐Synuclein Seeding in VPS35 D620N‐ and LRRK2 Y1699C‐Linked Parkinson's Disease

open access: yes
Movement Disorders, EarlyView.
Letizia Santinelli   +18 more
wiley   +1 more source

Efficacy and Safety of Foslevodopa/Foscarbidopa Monotherapy in Patients with Parkinson's Disease

open access: yesMovement Disorders Clinical Practice, Volume 13, Issue 1, Page 181-190, January 2026.
Abstract Background As Parkinson's disease (PD) progresses, managing symptoms becomes increasingly difficult. Foslevodopa/foscarbidopa (LDp/CDp), a 24‐hour/day continuous subcutaneous infusion of levodopa/carbidopa (LD/CD) prodrugs, improves motor complications.
Jason Aldred   +11 more
wiley   +1 more source

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? [PDF]

open access: yes, 2012
International audienceMutations in the eukaryotic translation initiation factor 4-gamma (EIF4G1) gene, encoding a component of the eIF4F translation initiation complex, were recently reported as a possible cause for the autosomal dominant form of ...
Anheim, Mathieu   +15 more
core   +5 more sources

Video Urodynamic Study in Patients with Parkinson's Disease and Multiple System Atrophy

open access: yesMovement Disorders Clinical Practice, Volume 13, Issue 1, Page 173-180, January 2026.
Abstract Background Most studies have analyzed the urodynamic characteristics of patients with Parkinson's disease (PD) and multiple system atrophy (MSA) using conventional urodynamic studies. Objectives This study investigated the urodynamic characteristics of both diseases using video urodynamic study (VUDS).
Hyun Sik Yoon   +3 more
wiley   +1 more source

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