Determinants of dopaminergic neuron loss in Parkinson's disease

DJ Surmeier - The FEBS journal, 2018 - Wiley Online Library
The cardinal motor symptoms of Parkinson's disease (PD) are caused by the death of
dopaminergic neurons in the substantia nigra pars compacta (SN c). Alpha‐synuclein …

Neuropathology of genetic synucleinopathies with parkinsonism: review of the literature

SA Schneider, RN Alcalay - Movement Disorders, 2017 - Wiley Online Library
Clinical–pathological studies remain the gold‐standard for the diagnosis of Parkinson's
disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis …

The genetic landscape of Parkinson's disease

A Lunati, S Lesage, A Brice - Revue neurologique, 2018 - Elsevier
The cause of Parkinson's disease (PD) remains unknown in most patients. Since 1997, with
the first genetic mutation known to cause PD described in SNCA gene, many other genes …

Parkinson sac domain mutation in synaptojanin 1 impairs clathrin uncoating at synapses and triggers dystrophic changes in dopaminergic axons

M Cao, Y Wu, G Ashrafi, AJ McCartney, H Wheeler… - Neuron, 2017 - cell.com
Summary Synaptojanin 1 (SJ1) is a major presynaptic phosphatase that couples synaptic
vesicle endocytosis to the dephosphorylation of PI (4, 5) P 2, a reaction needed for the …

Phosphatidylinositol-3, 4, 5-trisphosphate interacts with alpha-synuclein and initiates its aggregation and formation of Parkinson's disease-related fibril polymorphism

CJ Choong, C Aguirre, K Kakuda, G Beck… - Acta …, 2023 - Springer
Lipid interaction with α-synuclein (αSyn) has been long implicated in the pathogenesis of
Parkinson's disease (PD). However, it has not been fully determined which lipids are …

Parkinson's: a disease of aberrant vesicle trafficking

PK Singh, MMK Muqit - Annual review of cell and …, 2020 - annualreviews.org
Parkinson's disease (PD) is a leading cause of neurodegeneration that is defined by the
selective loss of dopaminergic neurons and the accumulation of protein aggregates called …

APP and DYRK1A regulate axonal and synaptic vesicle protein networks and mediate Alzheimer's pathology in trisomy 21 neurons

CI Wu, EA Vinton, RV Pearse, K Heo, AJ Aylward… - Molecular …, 2022 - nature.com
Abstract Trisomy 21 (T21) causes Down syndrome and an early-onset form of Alzheimer's
disease (AD). Here, we used human induced pluripotent stem cells (hiPSCs) along with …

[HTML][HTML] Mini-review: Synaptojanin 1 and its implications in membrane trafficking

H Choudhry, M Aggarwal, PY Pan - Neuroscience letters, 2021 - Elsevier
This mini-review aims to summarize a growing body of literature on synaptojanin 1 (Synj1), a
phosphoinositide phosphatase that was initially known to have a prominent role in synaptic …

Autophagy and the endolysosomal system in presynaptic function

M Andres-Alonso, MR Kreutz, A Karpova - Cellular and Molecular Life …, 2021 - Springer
The complex morphology of neurons, the specific requirements of synaptic
neurotransmission and the accompanying metabolic demands create a unique challenge for …

Druggable transcriptomic pathways revealed in Parkinson's patient-derived midbrain neurons

M van den Hurk, S Lau, MC Marchetto… - npj Parkinson's …, 2022 - nature.com
Complex genetic predispositions accelerate the chronic degeneration of midbrain substantia
nigra neurons in Parkinson's disease (PD). Deciphering the human molecular makeup of PD …