Search Results - "Hauser, David N"
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Mitochondrial dysfunction and oxidative stress in Parkinson's disease and monogenic parkinsonism
Published in Neurobiology of disease (01-03-2013)“…Abstract The pathogenic mechanisms that underlie Parkinson's disease remain unknown. Here, we review evidence from both sporadic and genetic forms of…”
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p62/SQSTM1 is required for Parkin-induced mitochondrial clustering but not mitophagy; VDAC1 is dispensable for both
Published in Autophagy (16-11-2010)“…Mitochondria sustain damage with aging, and the resulting mitochondrial dysfunction has been implicated in a number of diseases including Parkinson disease. We…”
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The G2385R variant of leucine-rich repeat kinase 2 associated with Parkinson's disease is a partial loss-of-function mutation
Published in Biochemical journal (15-08-2012)“…Autosomal-dominant missense mutations in LRRK2 (leucine-rich repeat kinase 2) are a common genetic cause of PD (Parkinson's disease). LRRK2 is a multidomain…”
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Dopamine quinone modifies and decreases the abundance of the mitochondrial selenoprotein glutathione peroxidase 4
Published in Free radical biology & medicine (01-12-2013)“…Oxidative stress and mitochondrial dysfunction are known to contribute to the pathogenesis of Parkinson's disease. Dopaminergic neurons may be more sensitive…”
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Proteomic analysis reveals co-ordinated alterations in protein synthesis and degradation pathways in LRRK2 knockout mice
Published in Human molecular genetics (15-09-2018)“…Abstract Mutations in leucine-rich repeat kinase 2 (LRRK2) segregate with familial Parkinson's disease (PD) and genetic variation around LRRK2 contributes to…”
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The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity
Published in Current protein & peptide science (01-01-2017)“…Early onset Parkinson's disease can be caused by variants in the PINK1, Parkin, and DJ-1 genes. Since their initial discoveries, hundreds of variants have been…”
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Hexokinases link DJ-1 to the PINK1/parkin pathway
Published in Molecular neurodegeneration (29-09-2017)“…Early onset Parkinson's disease is caused by variants in PINK1, parkin, and DJ-1. PINK1 and parkin operate in pathways that preserve mitochondrial integrity,…”
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Arsenite Stress Down-regulates Phosphorylation and 14-3-3 Binding of Leucine-rich Repeat Kinase 2 (LRRK2), Promoting Self-association and Cellular Redistribution
Published in The Journal of biological chemistry (01-08-2014)“…Mutations in the gene encoding leucine-rich repeat kinase 2 (LRRK2) are a common genetic cause of Parkinson disease, but the mechanisms whereby LRRK2 is…”
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Longitudinal Characterization of Transcriptomic, Functional, and Morphological Features in Human iPSC-Derived Neurons and Their Application to Investigate Translational Progranulin Disease Biology
Published in Frontiers in aging neuroscience (12-11-2020)“…The disease biology of frontotemporal lobe dementia (FTD) is complex and not fully understood, with limited translational value appreciated from animal models…”
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Dopamine: Functions, Signaling, and Association with Neurological Diseases
Published in Cellular and molecular neurobiology (01-01-2019)“…The dopaminergic system plays important roles in neuromodulation, such as motor control, motivation, reward, cognitive function, maternal, and reproductive…”
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Post-translational decrease in respiratory chain proteins in the Polg mutator mouse brain
Published in PloS one (01-04-2014)“…Mitochondrial DNA damage is thought to be a causal contributor to aging as mice with inactivating mutations in polymerase gamma (Polg) develop a progeroid…”
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Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease
Published in Proceedings of the National Academy of Sciences - PNAS (18-02-2014)“…Mutations in leucine-rich repeat kinase 2 (LRRK2) cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for sporadic PD…”
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mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex
Published in Nature neuroscience (01-04-2013)“…Using whole-transcriptome RNA sequencing at single-nucleotide resolution, this Resource article describes the mRNAs, RNA editing, splice variants and…”
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Differences in Stability, Activity and Mutation Effects Between Human and Mouse Leucine-Rich Repeat Kinase 2
Published in Neurochemical research (01-06-2019)“…Mutations in the Leucine-rich repeat kinase 2 ( LRRK2 ) gene have been implicated in the pathogenesis of Parkinson’s disease (PD). Identification of…”
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Use of cysteine‐reactive cross‐linkers to probe conformational flexibility of human DJ‐1 demonstrates that Glu18 mutations are dimers
Published in Journal of neurochemistry (01-09-2014)“…The oxidation of a key cysteine residue (Cys106) in the parkinsonism‐associated protein DJ‐1 regulates its ability to protect against oxidative stress and…”
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Astrocytes in Parkinson’s disease and DJ‐1
Published in Journal of neurochemistry (01-05-2011)Get full text
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The Polg Mutator Phenotype Does Not Cause Dopaminergic Neurodegeneration in DJ-1-Deficient Mice
Published in eNeuro (01-01-2015)“…Mutations in the DJ-1 gene cause autosomal recessive parkinsonism in humans. Several mouse models of DJ-1 deficiency have been developed, but they do not have…”
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Astrocytes in Parkinson’s disease and DJ-1: Review
Published in Journal of neurochemistry (01-05-2011)Get full text
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Astrocytes in Parkinsonas disease and DJa1
Published in Journal of neurochemistry (01-05-2011)Get full text
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Use of cysteine-reactive crosslinkers to probe conformational flexibility of human DJ-1 demonstrates that Glu18 mutations are dimers
Published in Journal of neurochemistry (19-06-2014)“…The oxidation of a key cysteine residue (Cys106) in the parkinsonism-associated protein DJ-1 regulates its ability to protect against oxidative stress and…”
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