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 …

Roles of PIKfyve in multiple cellular pathways

P Rivero-Ríos, LS Weisman - Current Opinion in Cell Biology, 2022 - Elsevier
Phosphoinositide signaling lipids are crucial for eukaryotes and regulate many aspects of
cell function. These signaling molecules are difficult to study because they are extremely low …

Neuronal lysosomal dysfunction releases exosomes harboring APP C-terminal fragments and unique lipid signatures

AM Miranda, ZM Lasiecka, Y Xu, J Neufeld… - Nature …, 2018 - nature.com
Defects in endolysosomal and autophagic functions are increasingly viewed as key
pathological features of neurodegenerative disorders. A master regulator of these functions …

DJ-1 in Parkinson's disease: clinical insights and therapeutic perspectives

M Repici, F Giorgini - Journal of clinical medicine, 2019 - mdpi.com
Mutations in the protein DJ-1 cause autosomal recessive forms of Parkinson's disease (PD)
and oxidized DJ-1 is found in the brains of idiopathic PD individuals. While several functions …

The role of monogenic genes in idiopathic Parkinson's disease

X Reed, S Bandrés-Ciga, C Blauwendraat… - Neurobiology of …, 2019 - Elsevier
In the past two decades, mutations in multiple genes have been linked to autosomal
dominant or recessive forms of monogenic Parkinson's disease (PD). Collectively, these …

[HTML][HTML] DJ-1 in neurodegenerative diseases: Pathogenesis and clinical application

M Huang, S Chen - Progress in Neurobiology, 2021 - Elsevier
Neurodegenerative diseases (NDs) are one of the major health threats to human
characterized by selective and progressive neuronal loss. The mechanisms of NDs are still …

New genes causing hereditary Parkinson's disease or parkinsonism

A Puschmann - Current neurology and neuroscience reports, 2017 - Springer
Abstract Purpose of Review This article reviews genes where putative or confirmed
pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified …

Juvenile parkinsonism: Differential diagnosis, genetics, and treatment

N Niemann, J Jankovic - Parkinsonism & related disorders, 2019 - Elsevier
Juvenile parkinsonism is arbitrarily defined as parkinsonian symptoms and signs presenting
prior to 21 years of age. Levodopa-responsive juvenile parkinsonism that is consistent with …

A practical approach to early-onset Parkinsonism

GM Riboldi, E Frattini, E Monfrini… - Journal of …, 2022 - content.iospress.com
Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …

[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 …