A Theranostic Approach to Intervene the Link Between Parkinson’s Disease (PD) and LRRK – 2 Mutation
Objective: The current research work encircles the main perspective of screening patients for PD with LRRK-2 mutations in patients pertaining to regions in and around…Genetic and pharmacological rescue of DJ-1 loss-of-function caused by a c.192G>C mutation in PARK7
Objective: In this study we investigate the cellular mechanism underlying the Parkinson’s disease (PD)-associated mutation c.192G>C in PARK7 and present a compound treatment that rescues…Early-Onset Parkinsonism and Short Stature in a Puerto Rican Kindred. Possible DJ1 deletion?
Objective: We aim to identify and describe the clinical phenotype associated with a Puerto Rican family with early-onset PD and short stature. Background: As few…A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
Objective: To present the clinical features and genetic findings of a Turkish family a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and…Systematic review of autosomal recessive parkinsonism using the MDGene database protocol
Objective: A systematic review of autosomal recessive parkinsonism using DJ-1 as an example. Background: MDGene is a genotype-phenotype database for rare mutations in movement disorders…Brain metabolic profile changes reflect subtle pathological alterations in different murine models of Parkinson’s disease
Objective: Understanding early, and therefore often subtle, disease processes in Parkinson's disease (PD) is essential for the development of disease modifying cures. But in patients,…DJ-1 regulates intracellular signaling in a highly cell type specific manner
Objective: To evaluate a cell type specific action of DJ-1, a PD and cancer associated gene, in intracellular signaling pathways. Background: Understanding the pathophysiology of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.