The Experts below are selected from a list of 773607 Experts worldwide ranked by ideXlab platform
Patrizia Rizzu - One of the best experts on this subject based on the ideXlab platform.
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dj 1 PARK7 a novel gene for autosomal recessive early onset parkinsonism
Neurological Sciences, 2003Co-Authors: Vincenzo Bonifati, Nicola Vanacore, Ferdinando Squitieri, Patrizia Rizzu, Elmar Krieger, J C Van Swieten, Alexis Brice, C M Van Duijn, Ben A OostraAbstract:Four chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Italian family. By positional cloning within the refined PARK7 critical region we recently identified mutations in the DJ-1 gene in the two PARK7-linked families. The function of DJ-1 remains largely unknown, but evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role for DJ-1 as an antioxidant and/or a molecular chaperone. Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease.
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Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
Annals of Neurology, 2002Co-Authors: Vincenzo Bonifati, Pierluigi Brustenghi, Biswadjiet S. Harhangi, Milena Cannella, Nicola Vanacore, Pasquale Montagna, Ferdinando Squitieri, Guido J Breedveld, Giovanni Fabbrini, Patrizia RizzuAbstract:Two new loci, PARK6 and PARK7, for autosomal recessive early-onset parkinsonism have recently been identified on chromosome 1p, in single large pedigrees. Among 4 autosomal recessive early-onset families analyzed here, 2 supported linkage to PARK7, 1 with conclusive evidence. These data confirm localization of autosomal recessive early-onset parkinsonism to PARK7, suggesting it to be a frequent locus. Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p.
Vincenzo Bonifati - One of the best experts on this subject based on the ideXlab platform.
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dj 1 PARK7 a novel gene for autosomal recessive early onset parkinsonism
Neurological Sciences, 2003Co-Authors: Vincenzo Bonifati, Nicola Vanacore, Ferdinando Squitieri, Patrizia Rizzu, Elmar Krieger, J C Van Swieten, Alexis Brice, C M Van Duijn, Ben A OostraAbstract:Four chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Italian family. By positional cloning within the refined PARK7 critical region we recently identified mutations in the DJ-1 gene in the two PARK7-linked families. The function of DJ-1 remains largely unknown, but evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role for DJ-1 as an antioxidant and/or a molecular chaperone. Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease.
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autosomal recessive early onset parkinsonism is linked to three loci park2 park6 and PARK7
Neurological Sciences, 2002Co-Authors: Vincenzo Bonifati, Pierluigi Brustenghi, Nicola Vanacore, Ferdinando Squitieri, Giovanni Fabbrini, Marieke C J Dekker, Roberto Marconi, Angelo Antonini, Dalla A Libera, M De MariAbstract:Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. The parkin protein displays ubiquitin-ligase activity for different targets, which accumulate in the brain of patients with parkin defect and might cause neurodegeneration. Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent. The three AREP forms display similar clinical phenotypes. Recruiting new families will help cloning the defective genes at PARK6 and PARK7 loci. This will contribute to unraveling the pathogenesis of AREP, and it is also expected to foster our understanding of molecular events underlying classic Parkinson's disease.
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Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
Annals of Neurology, 2002Co-Authors: Vincenzo Bonifati, Pierluigi Brustenghi, Biswadjiet S. Harhangi, Milena Cannella, Nicola Vanacore, Pasquale Montagna, Ferdinando Squitieri, Guido J Breedveld, Giovanni Fabbrini, Patrizia RizzuAbstract:Two new loci, PARK6 and PARK7, for autosomal recessive early-onset parkinsonism have recently been identified on chromosome 1p, in single large pedigrees. Among 4 autosomal recessive early-onset families analyzed here, 2 supported linkage to PARK7, 1 with conclusive evidence. These data confirm localization of autosomal recessive early-onset parkinsonism to PARK7, suggesting it to be a frequent locus. Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p.
Nicola Vanacore - One of the best experts on this subject based on the ideXlab platform.
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dj 1 PARK7 a novel gene for autosomal recessive early onset parkinsonism
Neurological Sciences, 2003Co-Authors: Vincenzo Bonifati, Nicola Vanacore, Ferdinando Squitieri, Patrizia Rizzu, Elmar Krieger, J C Van Swieten, Alexis Brice, C M Van Duijn, Ben A OostraAbstract:Four chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Italian family. By positional cloning within the refined PARK7 critical region we recently identified mutations in the DJ-1 gene in the two PARK7-linked families. The function of DJ-1 remains largely unknown, but evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role for DJ-1 as an antioxidant and/or a molecular chaperone. Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease.
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autosomal recessive early onset parkinsonism is linked to three loci park2 park6 and PARK7
Neurological Sciences, 2002Co-Authors: Vincenzo Bonifati, Pierluigi Brustenghi, Nicola Vanacore, Ferdinando Squitieri, Giovanni Fabbrini, Marieke C J Dekker, Roberto Marconi, Angelo Antonini, Dalla A Libera, M De MariAbstract:Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. The parkin protein displays ubiquitin-ligase activity for different targets, which accumulate in the brain of patients with parkin defect and might cause neurodegeneration. Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent. The three AREP forms display similar clinical phenotypes. Recruiting new families will help cloning the defective genes at PARK6 and PARK7 loci. This will contribute to unraveling the pathogenesis of AREP, and it is also expected to foster our understanding of molecular events underlying classic Parkinson's disease.
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Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
Annals of Neurology, 2002Co-Authors: Vincenzo Bonifati, Pierluigi Brustenghi, Biswadjiet S. Harhangi, Milena Cannella, Nicola Vanacore, Pasquale Montagna, Ferdinando Squitieri, Guido J Breedveld, Giovanni Fabbrini, Patrizia RizzuAbstract:Two new loci, PARK6 and PARK7, for autosomal recessive early-onset parkinsonism have recently been identified on chromosome 1p, in single large pedigrees. Among 4 autosomal recessive early-onset families analyzed here, 2 supported linkage to PARK7, 1 with conclusive evidence. These data confirm localization of autosomal recessive early-onset parkinsonism to PARK7, suggesting it to be a frequent locus. Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p.
Ferdinando Squitieri - One of the best experts on this subject based on the ideXlab platform.
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dj 1 PARK7 a novel gene for autosomal recessive early onset parkinsonism
Neurological Sciences, 2003Co-Authors: Vincenzo Bonifati, Nicola Vanacore, Ferdinando Squitieri, Patrizia Rizzu, Elmar Krieger, J C Van Swieten, Alexis Brice, C M Van Duijn, Ben A OostraAbstract:Four chromosomal loci ( PARK2, PARK6, PARK7, and PARK9) associated with autosomal recessive, early onset parkinsonism are known. We mapped the PARK7 locus to chromosome 1p36 in a large family from a genetically isolated population in the Netherlands, and confirmed this linkage in an Italian family. By positional cloning within the refined PARK7 critical region we recently identified mutations in the DJ-1 gene in the two PARK7-linked families. The function of DJ-1 remains largely unknown, but evidence from genetic studies on the yeast DJ-1 homologue, and biochemical studies in murine and human cell lines, suggests a role for DJ-1 as an antioxidant and/or a molecular chaperone. Elucidating the role of DJ-1 will lead to a better understanding of the pathogenesis of DJ-1-related and common forms of Parkinson's disease.
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autosomal recessive early onset parkinsonism is linked to three loci park2 park6 and PARK7
Neurological Sciences, 2002Co-Authors: Vincenzo Bonifati, Pierluigi Brustenghi, Nicola Vanacore, Ferdinando Squitieri, Giovanni Fabbrini, Marieke C J Dekker, Roberto Marconi, Angelo Antonini, Dalla A Libera, M De MariAbstract:Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. The parkin protein displays ubiquitin-ligase activity for different targets, which accumulate in the brain of patients with parkin defect and might cause neurodegeneration. Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent. The three AREP forms display similar clinical phenotypes. Recruiting new families will help cloning the defective genes at PARK6 and PARK7 loci. This will contribute to unraveling the pathogenesis of AREP, and it is also expected to foster our understanding of molecular events underlying classic Parkinson's disease.
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Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset
Annals of Neurology, 2002Co-Authors: Vincenzo Bonifati, Pierluigi Brustenghi, Biswadjiet S. Harhangi, Milena Cannella, Nicola Vanacore, Pasquale Montagna, Ferdinando Squitieri, Guido J Breedveld, Giovanni Fabbrini, Patrizia RizzuAbstract:Two new loci, PARK6 and PARK7, for autosomal recessive early-onset parkinsonism have recently been identified on chromosome 1p, in single large pedigrees. Among 4 autosomal recessive early-onset families analyzed here, 2 supported linkage to PARK7, 1 with conclusive evidence. These data confirm localization of autosomal recessive early-onset parkinsonism to PARK7, suggesting it to be a frequent locus. Assignment of families to either PARK6 or PARK7 might be difficult because of the proximity of the two loci on chromosome 1p.
Deborah A Cohen - One of the best experts on this subject based on the ideXlab platform.
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united states neighborhood park use and physical activity over two years the national study of neighborhood parks
Preventive Medicine, 2019Co-Authors: Kelly R. Evenson, Bing Han, Thomas L Mckenzie, Stephanie Williamson, Deborah A CohenAbstract:Abstract The United States lacks surveillance to monitor park use and conditions. The purpose of this study was to use the System for Observing Play and Recreation in Communities (SOPARC) as a surveillance tool to describe the conditions, user characteristics, and physical activity of a national sample of neighborhood parks at two time points. Using a stratified multistage sampling strategy, a representative sample of 174 neighborhood parks in 25 major United States' cities were selected. During 2014 and 2016, park-related use, conditions, and physical activity were assessed using SOPARC in 169 parks. Overall, 74,106 park users were observed at baseline and 69,150 park users were observed two years later (p = 0.37). There were persistent disparities in park use by gender and age, with disproportionately more male than female users in each age group (child, teenager, adult, older adult). Older adults used the park less than other age groups. Almost two-thirds of park users were observed being sedentary (61.9% in 2014, 60.7% in 2016), followed by moderate (30.8%, 32.0%) and vigorous (7.3%, 7.3%) activity. Empty target areas increased over two years (75.3%, 77.6%; p = 0.01) and those that were equipped (2.6%, 1.2%; p = 0.0003), accessible (95.4%, 94.3%; p = 0.01), and organized (2.6%, 1.7%; p = 0.01) decreased. Areas that were usable (97.5%, 97.4%) or provided supervised activities (2.0%, 2.4%) did not change significantly. The findings demonstrate the value of SOPARC as a surveillance tool, identify user groups under represented at parks, and suggest an opportunity to encourage more park-based physical activity among park visitors.
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the first national study of neighborhood parks implications for physical activity
American Journal of Preventive Medicine, 2016Co-Authors: Deborah A Cohen, Kelly R. Evenson, Bing Han, Catherine J Nagel, Peter Harnik, Thomas L Mckenzie, Terry Marsh, Stephanie Williamson, Christine Anne Vaughan, Sweatha KattaAbstract:Introduction An extensive infrastructure of neighborhood parks supports leisure time physical activity in most U.S. cities; yet, most Americans do not meet national guidelines for physical activity. Neighborhood parks have never been assessed nationally to identify their role in physical activity. Methods Using a stratified multistage sampling strategy, a representative sample of 174 neighborhood parks in 25 major cities (population >100,000) across the U.S. was selected. Park use, park-based physical activity, and park conditions were observed during a typical week using systematic direct observation during spring/summer of 2014. Park administrators were interviewed to assess policies and practices. Data were analyzed in 2014–2015 using repeated-measure negative binomial regressions to estimate weekly park use and park-based physical activity. Results Nationwide, the average neighborhood park of 8.8 acres averaged 20 users/hour or an estimated 1,533 person hours of weekly use. Walking loops and gymnasia each generated 221 hours/week of moderate to vigorous physical activity. Seniors represented 4% of park users, but 20% of the general population. Parks were used less in low-income than in high-income neighborhoods, largely explained by fewer supervised activities and marketing/outreach efforts. Programming and marketing were associated with 37% and 63% more hours of moderate to vigorous physical activity/week in parks, respectively. Conclusions The findings establish national benchmarks for park use, which can guide future park investments and management practices to improve population health. Offering more programming, using marketing tools like banners and posters, and installing facilities like walking loops, may help currently underutilized parks increase population physical activity.
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assessing the contribution of parks to physical activity using global positioning system and accelerometry
Medicine and Science in Sports and Exercise, 2013Co-Authors: Kelly R. Evenson, Amy Hillier, Deborah A CohenAbstract:AB Purpose: Parks offer a free option for physical activity in many communities. How much time people spend using parks and the contribution that parks makes to their physical activity is not known. This study describes patterns of park use and physical activity among a diverse adult sample. Methods: From five US states, 248 adults enrolled in or near 31 study parks. Participants wore a global positioning system (GPS) monitor (Qstarz BT-Q1000X) and an ActiGraph accelerometer (GT1M) concurrently for 3 wk. Parks were mapped from local and national park shape files. Park visits and travel to and from the parks were derived from the objective data. Results: Participants visited parks a median of 2.3 times per week, and park visits lasted a median of 42.0 min. Overall, participants engaged in a median of 21.7 min[middle dot]d-1 of moderate activity and 0.1 min[middle dot]d-1 of vigorous activity, with an average of 8.2% of all moderate and 9.4% of all vigorous activity occurring within the parks. Among those with at least one park visit (n = 218), counts per minute, moderate, moderate-to-vigorous physical activity (MVPA), number and time in MVPA bouts per day, and sedentary behavior were all higher on days when a park was visited compared with days when a park was not visited. Considering several definitions of active travel, walking or bicycling to and from the park added an additional 3.7-6.6 mean minutes of MVPA per park visit. Conclusions: Parks contributed as a place and destination for physical activity but were underused. One of the next steps in this line of inquiry is to understand characteristics of parks used more often as a place and destination for physical activity.