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…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…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,…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…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…