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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …