Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

By A. Zimprich, S. Biskup, Petra Leitner, P. Lichtner, M. Farrer, S. Lincoln, J. Kachergus, M. Hulihan, R. Uitti, D. Calne and 12 more. Neuron, 2004

3,061 citations recorded by the source corpus.

Subfields: Molecular Biology, Neurology

View Paper: https://www.semanticscholar.org/paper/9b66fbd80cbdd5eb60123bdc26bc64f0b660cc22

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In Molecular Biology

1. Rudolph E. Tanzi
2. Valina L. Dawson
3. T. Dawson
4. E. K. Kim
5. E. Choi
6. H. Ko
7. Lars Bertram
8. W. Ying

In Neurology

1. H. Ko
2. Valina L. Dawson
3. T. Dawson
4. M. Farrer
5. A. Schapira
6. Rudolph E. Tanzi
7. Jose A. Obeso
8. E. K. Kim

Citations in the corpus

• Genetic Animal Models of Parkinson’s Disease (2010, positive): “Mutations in LRRK2 are the most frequent genetic cause of autosomal-dominant PD (Paisá n-Ruíz et al., 2004; Zimprich et al., 2004).”
• Parkinson's disease: from monogenic forms to genetic susceptibility factors. (2009, background): “LRRK2 mutations at the PARK8 locus are found in autosomal dominant parkinsonism (28,29), but also in much more frequent sporadic cases.”
• Human Disease Models in Drosophila melanogaster and the Role of the Fly in Therapeutic Drug Discovery (2011, background): “It has been hypothesized that loss of E3 ligase activity is involved in the pathogenesis of parkin-linked PD. Mutations in the LRRK2 gene have been identified as other common genetic causes of PD (Paisá n-Ruíz et al., 2004; Zimprich et al., 2004).”
• Pathological roles of MAPK signaling pathways in human diseases. (2010, background): “several mutations in the Ras-related GTPase and MAP3K domains of LRRK2 have been associated with familial or sporadic PD [95–97], the”
• Parkinson's disease: genetics and pathogenesis. (2011, background): “Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) on chromosome 12, originally designated as the PARK8 locus, were first identified after linkage analysis and positional cloning methods were applied to isolated families with autosomal dominant parkinsonism (60, 61), but variants in this gen”
• Epidemiology and etiology of Parkinson’s disease: a review of the evidence (2011, background): “Two research groups independently found mutations in the LRRK2 gene in several families with autosomal dominant PD of different origin [175, 184].”
• Missing pieces in the Parkinson's disease puzzle (2010, background): “Mutations in LRRK2 represent the highest risk of familial and, seemingly, sporadic Parkinson's diseas”
• Evaluating drug targets through human loss-of-function genetic variation (2019, neutral): “…of LRRK2 mutations, as LRRK2 variants appear to occupy a spectrum of penetrance 75 . some variants exhibit Mendelian segregation with disease 76,77 , implying high risk; the G2019S variant is estimated to have ~32% penetrance 78 ; and other common variants are risk factors with odds ratios of…”
• Mitochondrial Dysfunction in Parkinson's Disease (2011, background): “in 2004 [115] and represents the most significant cause of autosomal dominant PD.”