Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

By V. Bonifati, P. Rizzu, M. V. van Baren, O. Schaap, G. Breedveld, Elmar Krieger, M. Dekker, F. Squitieri, P. Ibáñez, M. Joosse and 8 more. Science, 2002

2,869 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Neurology

View Paper: https://www.semanticscholar.org/paper/1eb075351704d364561ac69561cd1f6279b1466f

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cellular and Molecular Neuroscience

1. Valina L. Dawson
2. T. Dawson
3. M. Mouradian
4. V. Dias
5. E. Junn
6. M. Beal
7. Christian Haass
8. J. Blenis

In Neurology

1. Valina L. Dawson
2. T. Dawson
3. M. Beal
4. M. Mouradian
5. V. Dias
6. E. Junn
7. Rudolph E. Tanzi
8. A. Lutz

Citations in the corpus

• Mitochondrial defects and oxidative stress in Alzheimer disease and Parkinson disease (2012, background): “Pathogenic mutations in DJ-1 lead to autosomal recessive early onset parkinsonism [172].”
• A proteomic atlas of senescence-associated secretomes for aging biomarker development (2019, background): “Among the neurodegeneration proteins were amyloid precursor protein (APP) and cystatin 3 (CST3), related to Alzheimer’s pathogenesis and risk [35, 36], as well as Parkinsonism-associated deglycase (PARK7 or DJ1) [37] (Fig 2D).”
• A census of human RNA-binding proteins (2014, background): “PARK7 Parkinson disease missense mutation (Bonifati et al., 2003) PQBP1 Renpenning syndrome 1 frameshift (Kalscheuer et al.”
• Diagnosis and treatment of Parkinson disease: molecules to medicine. (2006, background): “DJ-1 and the role of oxidative stress Mutations in the gene encoding DJ-1 similar to those in parkin lead to early-onset, autosomal-recessive PD (110).”
• Parkinson Disease Epidemiology, Pathology, Genetics and Pathophysiology (2019, background): “Mutations in the DJ-1 gene also cause autosomal recessive early-onset PD(39).”
• Genetic Animal Models of Parkinson’s Disease (2010, neutral): “Several excellent reviews on these animal and cellular models exist (see Bové et al., 2005; Chesselet et al., 2008; Gupta et al., 2008; Lim and Ng, 2009; Moore et al., 2005; Pallanck and Whitworth, 2007; Wong, 2007).”
• Cellular Stress Responses, The Hormesis Paradigm, and Vitagenes: Novel Targets for Therapeutic Intervention in Neurodegenerative Disorders (2010, neutral): “Thus, loss-of-function mutations in PARK7 , the gene encoding DJ-1, are associated with autosomal recessive early onset Parkinsonism (39).”