Alpha-synuclein: mechanisms of release and pathology progression in synucleinopathies

IC Brás, TF Outeiro - Cells, 2021 - mdpi.com
The accumulation of misfolded alpha-synuclein (aSyn) throughout the brain, as Lewy
pathology, is a phenomenon central to Parkinson's disease (PD) pathogenesis. The …

Phytochemicals as regulators of genes involved in synucleinopathies

A Surguchov, L Bernal, AA Surguchev - Biomolecules, 2021 - mdpi.com
Synucleinopathies are a group of neurodegenerative diseases characterized by the
accumulation of α-synuclein aggregates in neurons, nerve fibers or glial cells. Three main …

Mechanisms underlying phenotypic variation in neurogenetic disorders

JM Burgunder - Nature Reviews Neurology, 2023 - nature.com
Neurological diseases associated with pathogenic variants in a specific gene, or even with a
specific pathogenic variant, can show profound phenotypic variation with regard to symptom …

LRRK2 signaling in neurodegeneration: two decades of progress

L Iannotta, E Greggio - Essays in Biochemistry, 2021 - portlandpress.com
Leucine-rich repeat kinase 2 (LRRK2) is a complex GTPase/kinase orchestrating
cytoskeletal dynamics and multiple steps of the endolysosomal pathway through interaction …

Genetic evidence for endolysosomal dysfunction in Parkinson's disease: a critical overview

V Yahya, A Di Fonzo, E Monfrini - International Journal of Molecular …, 2023 - mdpi.com
Parkinson's disease (PD) is the second most common neurodegenerative disorder in the
aging population, and no disease-modifying therapy has been approved to date. The …

LRRK2 at the Crossroad of Aging and Parkinson's Disease

EM Hur, BD Lee - Genes, 2021 - mdpi.com
Parkinson's disease (PD) is a heterogeneous neurodegenerative disease characterized by
the progressive loss of dopaminergic neurons in the substantia nigra pars compacta and the …

Overview of the impact of pathogenic LRRK2 mutations in Parkinson's Disease

G Ito, N Utsunomiya-Tate - Biomolecules, 2023 - mdpi.com
Leucine-rich repeat kinase 2 (LRRK2) is a large protein kinase that physiologically
phosphorylates and regulates the function of several Rab proteins. LRRK2 is genetically …

LRRK2 and Proteostasis in Parkinson's Disease

MD Pérez-Carrión, I Posadas, J Solera… - International Journal of …, 2022 - mdpi.com
Parkinson's disease is a neurodegenerative condition initially characterized by the presence
of tremor, muscle stiffness and impaired balance, with the deposition of insoluble protein …

LRRK2: Genetic mechanisms vs genetic subtypes

I Mata, P Salles, M Cornejo-Olivas, P Saffie… - Handbook of clinical …, 2023 - Elsevier
In 2004, the identification of pathogenic variants in the LRRK2 gene across several families
with autosomal dominant late-onset Parkinson's disease (PD) revolutionized our …

Genetics of cognitive dysfunction in Parkinson's disease

AH Wise, RN Alcalay - Progress in Brain Research, 2022 - Elsevier
Presentation and progression of cognitive symptoms in Parkinson's disease are highly
variable. PD is a genetically complex disorder with multiple genetic risk factors and …