Splicing: is there an alternative contribution to Parkinson's disease?

V La Cognata, V D'Agata, F Cavalcanti, S Cavallaro - Neurogenetics, 2015 - Springer
Alternative splicing is a crucial mechanism of gene expression regulation that enormously
increases the coding potential of our genome and represents an intermediate step between …

The synaptic function of parkin

J Sassone, GM Serratto, F Valtorta, V Silani… - Brain, 2017 - academic.oup.com
Loss of function mutations in the gene PARK2, which encodes the protein parkin, cause
autosomal recessive juvenile parkinsonism, a neurodegenerative disease characterized by …

Regulation of Parkin expression as the key balance between neural survival and cancer cell death

FE Murillo-González, R García-Aguilar, L Vega… - Biochemical …, 2021 - Elsevier
Parkin is a cytosolic E3 ubiquitin ligase that plays an important role in neuroprotection by
targeting several proteins to be degraded by the 26S proteasome. Its dysfunction has been …

Does the expression and epigenetics of genes involved in monogenic forms of Parkinson's disease influence sporadic forms?

A Lanore, S Lesage, LL Mariani, PJ Menon… - Genes, 2022 - mdpi.com
Parkinson's disease (PD) is a disorder characterized by a triad of motor symptoms (akinesia,
rigidity, resting tremor) related to loss of dopaminergic neurons mainly in the Substantia …

Alternative splicing generates different parkin protein isoforms: evidences in human, rat, and mouse brain

S Scuderi, V La Cognata, F Drago… - BioMed research …, 2014 - Wiley Online Library
Parkinson protein 2, E3 ubiquitin protein ligase (PARK2) gene mutations are the most
frequent causes of autosomal recessive early onset Parkinson's disease and juvenile …

The PINK1—Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells

AV Bradshaw, P Campbell, AHV Schapira, HR Morris… - PLoS …, 2021 - journals.plos.org
Mutations in the PINK1 and PRKN genes are the most common cause of early-onset familial
Parkinson disease. These genes code for the PINK1 and Parkin proteins, respectively …

Increasing the coding potential of genomes through alternative splicing: the case of PARK2 gene

V La Cognata, R Iemmolo, V D'Agata… - Current …, 2014 - ingentaconnect.com
The completion of the Human Genome Project aroused renewed interest in alternative
splicing, an efficient and widespread mechanism that generates multiple protein isoforms …

Proteomic studies associated with Parkinson's disease

M Kasap, G Akpinar, A Kanli - Expert review of proteomics, 2017 - Taylor & Francis
Introduction: Parkinson's disease (PD) is an insidious disorder affecting more than 1–2% of
the population over the age of 65. Understanding the etiology of PD may create …

Linking a compound-heterozygous Parkin mutant (Q311R and A371T) to Parkinson's disease by using proteomic and molecular approaches

S Ozgul, M Kasap, G Akpinar, A Kanli, N Güzel… - Neurochemistry …, 2015 - Elsevier
Parkin is an E3-protein ubiquitin ligase, which plays an important role as a scavenger in cell
metabolism. Since the discovery of the link between Parkin and Parkinson's disease, Parkin …

The PARK2 Mutation Associated with Parkinson's Disease Enhances the Vulnerability of Peripheral Blood Lymphocytes to Paraquat

F Ming, J Tan, L Qin, H Zhang, J Tang… - BioMed Research …, 2020 - Wiley Online Library
Parkinson's disease (PD) is the second most common neurodegenerative disease in middle‐
aged and elderly people. However, the etiology and pathogenesis of PD are still unclear …