Abstract:
:Genetic analysis aims to identify the variations in DNA sequence whose functional consequences produce heritable variations in phenotype. In one of the first successes of unbiased molecular genetic analysis in human disease, the Huntington's disease (HD) gene was mapped and cloned without any prior knowledge of the nature of its protein product or of the molecular defect that underlies the characteristic phenotype of the disorder. However, while the cloning of HD and recognition of its trinucleotide repeat expansion spawned a plethora of approaches to investigating HD through its distinctive neuropathology, the role for genetic strategies in HD research did not end there. The use of genetic analysis has remained a critical tool for defining the characteristics of the mechanism that triggers the pathogenic process, permitting the investigation of early events that occur long before traditionally recognized pathology. Delineation of these events can reveal molecular targets for development of therapies that prevent onset of HD. Most recently, an extension of genetic analysis to the identification of non-linked genetic variations that alter the course of HD pathogenesis has offered the promise of identifying modifier genes to reveal biological pathways active throughout the disease process and to provide valid targets for pharmacological intervention. Thus, unbiased genetic strategies have not only provided a crucial entrée into molecular investigation of HD via a root cause that was previously unsuspected, they also represent a continuing route to accelerate the ultimate goal of developing an effective treatment for HD.
journal_name
Brain Res Bulljournal_title
Brain research bulletinauthors
Gusella JF,Macdonald Mdoi
10.1016/j.brainresbull.2006.10.014subject
Has Abstractpub_date
2007-04-30 00:00:00pages
78-82issue
2-3eissn
0361-9230issn
1873-2747pii
S0361-9230(06)00316-9journal_volume
72pub_type
杂志文章abstract::The effect of bilateral colchicine lesions of the nucleus basalis magnocellularis (NBM) on agonist-stimulated phosphoinositide (PI) hydrolysis was examined in cortical slices 1, 3, or 14 months after surgery. Colchicine lesions resulted in a loss of acetylcholinesterase staining in the cortex which recovered to contro...
journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(91)90112-w
更新日期:1991-04-01 00:00:00
abstract::In the frog Rana esculenta the left dorsal habenula includes a lateral and a medial component, whereas the right dorsal habenula is only represented by one nucleus. The efferents of the habenular nuclei to the interpeduncular nucleus were herein investigated with the retrograde horseradish peroxidase tracing. Injectio...
journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/s0361-9230(97)00315-8
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journal_title:Brain research bulletin
pub_type: 杂志文章,评审
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(96)00174-8
更新日期:1996-01-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(80)90207-5
更新日期:1980-11-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章,评审
doi:10.1016/j.brainresbull.2019.07.013
更新日期:2019-10-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章,评审
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更新日期:2011-03-10 00:00:00
abstract::The effects of intracerebroventricular (ICV) colchicine (70 micrograms per rat) on systolic pressures and levels of hexokinase activity in the hypothalamic paraventricular (PVH) and supraoptic (SON) nuclei were investigated in adult normotensive and spontaneously hypertensive rats (SHR). One day after colchicine injec...
journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(89)90162-7
更新日期:1989-07-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/s0361-9230(97)00451-6
更新日期:1998-04-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
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更新日期:1976-01-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(88)90119-0
更新日期:1988-07-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2008.11.006
更新日期:2009-04-29 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(81)90086-1
更新日期:1981-08-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2019.05.016
更新日期:2019-08-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(93)90305-u
更新日期:1993-01-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2015.06.005
更新日期:2015-07-01 00:00:00
abstract::To better describe the hypothalamic efferents that mediate estrogenic effects on lordosis, each of 18 ovariectomized hamsters received a 30 gauge implant of estradiol aimed at the right or left ventromedial hypothalamus (VMN). Six days later, subjects were treated with progesterone and observed for their durations of ...
journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(89)90094-4
更新日期:1989-04-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2005.03.013
更新日期:2005-09-15 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章,评审
doi:10.1016/j.brainresbull.2005.02.006
更新日期:2005-09-15 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章,评审
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2020.06.008
更新日期:2020-09-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(82)90095-8
更新日期:1982-06-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2008.05.005
更新日期:2008-09-05 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2017.08.001
更新日期:2018-04-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/0361-9230(96)00034-2
更新日期:1996-01-01 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2008.09.020
更新日期:2009-03-30 00:00:00
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journal_title:Brain research bulletin
pub_type: 杂志文章,评审
doi:10.1016/j.brainresbull.2017.11.009
更新日期:2018-03-01 00:00:00
abstract::Entrainment of the dominant circadian pacemaker localised to the hypothalamic suprachiasmatic nuclei (SCN) is mediated partially via the indirect retino-geniculo-hypothalamic projection to the SCN, which is presumed to utilise enkephalin and other neurotransmitters, to modulate circadian rhythmicity. In the present st...
journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/s0361-9230(99)00069-6
更新日期:1999-09-15 00:00:00
abstract::The primary objective of this study was to determine whether pretreatment with kappa- and delta-opioid agonists potentiates naltrexone-induced suppression of water consumption following 24h of deprivation. This study also examined the temporal effects of agonist-induced antinociception using the tail-flick and hot-pla...
journal_title:Brain research bulletin
pub_type: 杂志文章
doi:10.1016/j.brainresbull.2008.04.002
更新日期:2008-08-15 00:00:00