Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Kirby D. Smith"'
Publikováno v:
Frontiers in Aging Neuroscience, Vol 11 (2019)
Down syndrome (DS), a genetic disorder caused by partial or complete triplication of chromosome 21, is the most common genetic cause of intellectual disability. DS mouse models and cell lines display defects in cellular adaptive stress responses incl
Externí odkaz:
https://doaj.org/article/4afa015220ff4a13aa5f59cad516a368
Publikováno v:
BioTechniques, Vol 29, Iss 2, Pp 234-236 (2000)
Externí odkaz:
https://doaj.org/article/15733e490e784bada940018d68802e7a
Autor:
Mark P. Mattson, Rebecca Deering Brose, Yongqing Zhang, Elin Lehrmann, Roger H. Reeves, Kirby D. Smith
Publikováno v:
Neurobiology of aging. 72
Alzheimer's disease (AD) is an age-related neurodegenerative disorder characterized by accumulation of amyloid β-peptide (Aβ) plaques in the brain and decreased cognitive function leading to dementia. We tested if hydroxyurea (HU), a ribonucleotide
Autor:
Andrew W. Zimmerman, Kirby D. Smith, Eric A. Macklin, Susan L. Connors, Paul Talalay, Jed W. Fahey, Kanwaljit Singh
Publikováno v:
Proceedings of the National Academy of Sciences. 111:15550-15555
Autism spectrum disorder (ASD), characterized by both impaired communication and social interaction, and by stereotypic behavior, affects about 1 in 68, predominantly males. The medico-economic burdens of ASD are enormous, and no recognized treatment
Autor:
Gloria Shin, Kirby D. Smith, Shirley H. Purvis, Tonya Schneidereith, Gao X. Dong, Forrest Spencer, Rebecca Deering Brose, Jeffrey R. Keefer, Martina C. McGuinness
Publikováno v:
Human Molecular Genetics. 21:4237-4252
Various small molecule pharmacologic agents with different known functions produce similar outcomes in diverse Mendelian and complex disorders, suggesting that they may induce common cellular effects. These molecules include histone deacetylase inhib
Publikováno v:
Journal of Neurology. 259:1440-1447
X-linked adrenoleukodystrophy (XALD), a neurological disorder caused by mutations in the peroxisomal membrane protein gene ABCD1, presents as a rapidly progressing, inflammatory cerebral demyelination (cerebral cases) or a slowly progressing, distal
Autor:
Ann B. Moser, Ann K. Heinzer, Hugo W. Moser, Paul A. Watkins, Kirby D. Smith, Rebecca Deering, James M. Powers, Zhengtong Pei
Publikováno v:
Journal of Neuropathology and Experimental Neurology. 64:1067-1079
X-linked adreno-leukodystrophy is a progressive, systemic peroxisomal disorder that affects primarily nervous system myelin and axons as well as the adrenal cortex. Several divergent clinical phenotypes can occur in the same family; thus, there is no
Autor:
Yuanyuan Li, Maartje M. Zuidervaart, Zhenzhen Jia, Zhengtong Pei, Paul A. Watkins, Kirby D. Smith, Steven J. Steinberg, Nadia A. Oey
Publikováno v:
Journal of Biological Chemistry. 278:47070-47078
Acyl-CoA synthetases play a pivotal role in fatty acid metabolism, providing activated substrates for fatty acid catabolic and anabolic pathways. Acyl-CoA synthetases comprise numerous proteins with diverse substrate specificities, tissue expression
Autor:
Stephanie J. Mihalik, Kirby D. Smith, Stephan Kemp, Yuan Yuan Li, Ann K. Heinzer, Ann B. Moser, Jyh Feng Lu, Paul A. Watkins, James M. Powers
Publikováno v:
Human molecular genetics, 12(10), 1145-1154. Oxford University Press
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative and endocrine disorder resulting from mutations in ABCD1 which encodes a peroxisomal membrane protein in the ATP binding cassette superfamily. The biochemical signature of X-ALD is increase
Publikováno v:
Journal of biological chemistry, 277(32), 28765-28773. American Society for Biochemistry and Molecular Biology Inc.
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by accumulation of very long-chain fatty acids (VLCFA). This accumulation has been attributed to decreased VLCFA beta-oxidation and peroxisomal very long-chain acyl-C