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 …

α-Synuclein and parkinsonism: updates and future perspectives

K Rosborough, N Patel, LV Kalia - Current neurology and neuroscience …, 2017 - Springer
Mutations in the SNCA gene, which encodes the α-synuclein protein, were the first
discovered genetic causes of familial parkinsonism with Lewy pathology. To date, six …

A clinical and molecular genetic study of 50 families with autosomal recessive parkinsonism revealed known and novel gene mutations

S Taghavi, R Chaouni, A Tafakhori, LJ Azcona… - Molecular …, 2018 - Springer
In this study, the role of known Parkinson's disease (PD) genes was examined in families
with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD …

Genetic variants and animal models in SNCA and Parkinson disease

H Deng, L Yuan - Ageing research reviews, 2014 - Elsevier
Abstract Parkinson disease (PD; MIM 168600) is the second most common progressive
neurodegenerative disorder characterized by a variety of motor and non-motor features. To …

A new iPhone application for measuring active craniocervical range of motion in patients with non-specific neck pain: a reliability and validity study

MR Pourahmadi, R Bagheri, M Taghipour… - The Spine Journal, 2018 - Elsevier
Abstract Background Context Measurement of cervical spine range of motion (ROM) is often
considered to be an essential component of cervical spine physiotherapy assessment …

[HTML][HTML] P5B-ATPases in the mammalian polyamine transport system and their role in disease

M Azfar, S van Veen, M Houdou, NN Hamouda… - … et Biophysica Acta (BBA …, 2022 - Elsevier
Polyamines (PAs) are physiologically relevant molecules that are ubiquitous in all
organisms. The vitality of PAs to the healthy functioning of a cell is due to their polycationic …

Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach

V La Cognata, G Morello, V D'Agata, S Cavallaro - Human genetics, 2017 - Springer
Abstract Parkinson's disease (PD), the second most common progressive
neurodegenerative disorder of aging, was long believed to be a non-genetic sporadic origin …

Mutations in the ATP13A2 Gene and Parkinsonism: A Preliminary Review

X Yang, Y Xu - BioMed Research International, 2014 - Wiley Online Library
Parkinson's disease (PD) is a major neurodegenerative disorder for which the etiology and
pathogenesis remain as elusive as for Alzheimer′ s disease. PD appears to be caused by …

Parkinson's disease: available clinical and promising omics tests for diagnostics, disease risk assessment, and pharmacotherapy personalization

OP Trifonova, DL Maslov, EE Balashova… - Diagnostics, 2020 - mdpi.com
Parkinson's disease is the second most frequent neurodegenerative disease, representing a
significant medical and socio-economic problem. Modern medicine still has no answer to the …

α-Synuclein at the presynaptic axon terminal as a double-edged sword

LY Tan, KH Tang, LYY Lim, JX Ong, H Park, S Jung - Biomolecules, 2022 - mdpi.com
α-synuclein (α-syn) is a presynaptic, lipid-binding protein strongly associated with the
neuropathology observed in Parkinson's disease (PD), dementia with Lewy bodies (DLB) …