Abstract：
:Insertion and deletion variants (indels) within poly glycine tracts of fused in sarcoma (FUS) were initially reported as causative of disease in amyotrophic lateral sclerosis (ALS). Subsequent studies identified similar indels in controls and suggested that these indels may confer susceptibility to ALS. We aimed to elucidate the role of previously published and novel exonic indels in FUS in an extensive cohort of 630 ALS patients and 1063 controls. We detected indels in FUS exons 5, 6, 12, and 14 with similar frequencies in patients (0.95%) and controls (0.75%). Exonic indels in poly glycine tracts were also observed with similar frequencies. The largest indel (p.Gly138_Tyr143del) was observed in 1 control. In 1 patient, a 3 base pair deletion in exon 14 (p.Gly475del) was identified, however in vitro studies did not reveal abnormal localization of p.Gly475del mutant FUS. These findings suggest that not all exonic indels in FUS cause disease.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Rutherford NJ,Finch NA,DeJesus-Hernandez M,Crook RJ,Lomen-Hoerth C,Wszolek ZK,Uitti RJ,Graff-Radford NR,Rademakers Rdoi
10.1016/j.neurobiolaging.2010.09.029subject
Has Abstractpub_date
2012-02-01 00:00:00pages
424.e23-4issue
2eissn
0197-4580issn
1558-1497pii
S0197-4580(10)00423-9journal_volume
33pub_type
杂志文章abstract：:Psychotic symptoms occur in approximately 40% of subjects with Alzheimer disease (AD with psychosis; AD + P) and identify a subgroup with more rapid cognitive decline. We evaluated in 867 AD subjects the association of AD + P with genes which may modify the pathological process via effects on the accumulation of amylo...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2010.10.003
更新日期：2011-03-01 00:00:00
abstract：:The effects of age and estradiol on hypothalamic content and distribution of tubulin and calmodulin were examined by radioimmunoassay in ovariectomized C57BL/6J female mice. A small (14%) increase in particulate tubulin, but not soluble tubulin, was found in the hypothalamus of reproductively senescent mice (20 months...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/0197-4580(85)90008-9
更新日期：1985-01-01 00:00:00
abstract：:White matter is frequently involved in ischemic stroke, and progressive ischemic white matter injuries are associated with various neurologic dysfunctions in the elderly population. Demyelination and oligodendrocyte (OL) loss are prominent features of ischemic white matter injury. Endothelin-1 injection into the inter...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2014.01.146
更新日期：2014-07-01 00:00:00
abstract：:Studies in asymptomatic granulin gene (GRN) mutation carriers are essential to improve our understanding of the pattern and timing of early morphologic brain changes in frontotemporal lobar degeneration. The main objectives of this study were to assess the effect of age in cortical thickness changes (CTh) in preclinic...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2012.11.005
更新日期：2013-05-01 00:00:00
abstract：:A group of alterations in the structure of cortical microvessels is described in the brain tissue of neuropathologically confirmed patients with Alzheimer's disease. These changes include irregular thickening of the vessel walls, infiltration with amyloid and the serum P component of amyloid, loss of the perivascular ...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/s0197-4580(88)80014-9
更新日期：1988-01-01 00:00:00
abstract：:Research of the human brain metabolism in vivo has largely focused on total glucose use (via fluorodeoxyglucose positron emission tomography) and, until recently, did not examine the use of glucose outside oxidative phosphorylation, which is known as aerobic glycolysis (AG). AG supports important functions including b...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2018.03.014
更新日期：2018-07-01 00:00:00
abstract：:The ABO blood group locus was recently found to contribute independently and via interactions with angiotensin-converting enzyme (ACE) gene variation to plasma levels of ACE. Variation in ACE has previously been not only implicated as individually conferring susceptibility for Alzheimer's disease (AD) but also propose...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2015.01.013
更新日期：2015-04-01 00:00:00
abstract：:The definitive diagnosis of Alzheimer's disease (AD) is made at autopsy by the presence of abundant neuritic plaques (NP) and neurofibrillary tangles (NFT) in the neocortex, entorhinal cortex, and hippocampus. The two criteria most frequently used by neuropathologists for the diagnosis of AD over the past 12 years are...
journal_title：Neurobiology of aging
pub_type： 杂志文章,评审
doi：10.1016/s0197-4580(97)00064-x
更新日期：1997-07-01 00:00:00
abstract：:In the last decade, functional magnetic resonance imaging (fMRI) has emerged as a tool to study changes in brain function associated with a genetic risk for Alzheimer's disease (AD), with a particular focus on the effects of the APOE-ε4 allele. This review compiles the existing literature concerning the effects of APO...
journal_title：Neurobiology of aging
pub_type： 杂志文章,评审
doi：10.1016/j.neurobiolaging.2010.03.009
更新日期：2012-02-01 00:00:00
abstract：:Changes in regional cerebral blood flow (rCBF) associated with a face-matching task were examined using positron emission tomography (PET) and H2(15)O in 7 patients with mild-moderate dementia of the Alzheimer type (DAT) and in 8 healthy age-matched controls. rCBF was normalized to whole brain flow and pixel-by-pixel ...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/0197-4580(93)90018-7
更新日期：1993-01-01 00:00:00
abstract：:Aged rats show decrements in performance on cognitive tasks that require the use of spatial learning and memory. We used the 8-arm radial water maze (RAWM) to measure spatial learning as a function of age in young (6 months) and old (21 months) male F344 rats. Rats were placed in the RAWM in different start arms with ...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/s0197-4580(03)00041-1
更新日期：2004-02-01 00:00:00
abstract：:It is well established that mitochondrial fragmentation plays a key role in the pathogenesis of Alzheimer's disease (AD). Mitochondrial fission is mediated by dynamin-related protein 1 (Drp1), which is highly expressed in nervous system and regulated by various posttranslational modifications including phosphorylation...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2014.08.005
更新日期：2015-01-01 00:00:00
abstract：:The relationship between hematological variables and the ability to perform behaviorally in two learning tests was evaluated in male F344 rats aged 22-24 months. Rats were screened for ability to meet criterion for learning one-way active avoidance in a straight runway task. Rats failing to meet criterion were given n...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/0197-4580(95)80011-f
更新日期：1995-01-01 00:00:00
abstract：:Although neuroactive steroids exert neuroprotective actions in different experimental models of neurodegenerative diseases, including those of Alzheimer's disease (AD), their relationships with aged related physiologic and pathologic brain changes remain to be clarified. In this study the levels of pregnenolone, dehyd...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2012.10.007
更新日期：2013-04-01 00:00:00
abstract：:CR1 is a novel Alzheimer's disease (AD) gene identified by genome-wide association studies (GWAS). Recently, we showed that AD risk could be explained by an 18-kilobase insertion responsible for the complement component (3b/4b) receptor 1 (CR1)-S isoform. We investigated the relevance of the CR1 isoforms to AD in a Ca...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2012.07.001
更新日期：2012-12-01 00:00:00
abstract：:We recently, characterized a novel peptide of the egg-laying controlling caudodorsal cells (CDC) of Lymnaea stagnalis. Here, we show that the novel peptide has autoinhibitory actions and its expression is significantly up-regulated in reproductively senescent animals. Intracellular recordings show that when bath-appli...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2005.03.020
更新日期：2006-05-01 00:00:00
abstract：:Distortions in the rest-activity rhythm in aging are commonly observed. Neurodegenerative changes of the suprachiasmatic nucleus have been proposed to underlie this disrupted rhythm. However, based on previous studies, it can be proposed that white matter hyperintensities (WMH) may also play a role in the altered rest...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2007.02.014
更新日期：2008-08-01 00:00:00
abstract：:The mitochondrial theory of aging argues that oxidative stress, caused by mitochondrial DNA mutations, is associated with decreased adenosine triphosphate (ATP) production leading to cellular degeneration. The rate of this degradation is linked to metabolic demand, with the outer retina having the greatest in the body...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2012.04.014
更新日期：2013-02-01 00:00:00
abstract：:People with obesity and type 2 diabetes are at increased risk of cognitive impairment. We aimed to investigate the association of leptin with cognitive abilities in an elderly population with type 2 diabetes. We performed a cross-sectional study of 1057 men and women aged 60-75 years with type 2 diabetes living in Lot...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2012.02.026
更新日期：2012-12-01 00:00:00
abstract：:The low density lipoprotein receptor (LDLR) is an attractive candidate gene for genetic association with Alzheimer's disease (AD) because: (i) the LDLR is an apolipoprotein E (apoE) receptor, alleles of which have been associated with AD, (ii) LDLR resides at chromosome 19p13.3 within a region linked to AD, and (iii) ...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2004.09.001
更新日期：2005-01-01 00:00:00
abstract：:The supraoptic nucleus of the F344 rat shows an age-related dendritic regression. In order to determine whether this previously observed dendritic regression may have been related to extrinsic (to the cell) hormonal, neurotoxic, or other circulating factors unique to the hypothalamus of older brains, we conducted a qu...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/0197-4580(85)90051-x
更新日期：1985-10-01 00:00:00
abstract：:Low homocysteine levels and B vitamin treatment are reported to protect against declining cognitive health. Both B vitamins and homocysteine are involved in the production of S-adenosylmethionine, a universal methyl donor essential for the process of DNA methylation. We investigated the effect of a damaging coding var...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2019.02.001
更新日期：2019-06-01 00:00:00
abstract：:Reduced excitability, due to an increase in the slow afterhyperpolarization (and its underlying current sI(AHP)), occurs in CA1 pyramidal cells in aged cognitively-impaired, but not cognitively-unimpaired, rodents. We sought to determine whether similar age-related changes in the sI(AHP) occur in pyramidal cells in th...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2010.07.002
更新日期：2012-06-01 00:00:00
abstract：:The etiology of Alzheimer's disease is still unknown. Because the disease is specific for human brain, a rational search for early diagnosis or prevention is very difficult. This calls for the development of cellular models that mimick the degeneration of neurons in AD. The brains of AD patients contain markers whose ...
journal_title：Neurobiology of aging
pub_type： 杂志文章,评审
doi：10.1016/0197-4580(94)90178-3
更新日期：1994-01-01 00:00:00
abstract：:Energy deficiency and dysfunction of the Na,K-ATPase are common consequences of many pathological insults. Glutamate through cyclic GMP and cyclic GMP-dependent protein kinase (PKG) has been shown to stimulate alpha(2/3)-Na,K-ATPase activity in the central nervous system. Thus, a slight impairment of this pathway may ...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2004.08.013
更新日期：2005-06-01 00:00:00
abstract：:Recent findings seem to converge towards a unified hypothesis trying to relate Down's syndrome (DS), trisomy 21 and Alzheimer's disease (AD). The majority of DS individuals develop neuropathological characteristics of AD by the age of 40. Previous cytogenetic studies performed by us showed an increased frequency of an...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2005.03.025
更新日期：2006-05-01 00:00:00
abstract：:To determine if the membrane disordering effect of ethanol on cerebral microvessels is altered with age, the steady state fluorescence polarization (P) of diphenyl-hexatriene (DPH) and 1-(4-trimethylammoniumphenyl)-6-phenyl-1,3,5-hexatriene (TMA-DPH) which report on the membrane core and surface region, respectively, ...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/0197-4580(93)90005-v
更新日期：1993-05-01 00:00:00
abstract：:Since the introduction of amyloid imaging nearly 10 years ago, this technique has gained widespread use and acceptance. More recently, published reports have begun to appear in which amyloid imaging is used to detect the effects of antiamyloid therapies. This review will consider the issues involved in the use of amyl...
journal_title：Neurobiology of aging
pub_type： 杂志文章,评审
doi：10.1016/j.neurobiolaging.2011.09.006
更新日期：2011-12-01 00:00:00
abstract：:The impact of many inflammatory diseases is influenced by age-related changes in the activation of resident and circulating myeloid cells. In the eye, a major sight-threatening consequence of age-related macular degeneration is the development of severe choroidal neovascularization (CNV). To identify the molecular pat...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/j.neurobiolaging.2015.12.019
更新日期：2016-04-01 00:00:00
abstract：:An age-related increase in stimulation-evoked fractional norepinephrine release has been demonstrated in tail artery of Fischer-344 rats from 6 to 20 months of age. Previous studies have ruled out alterations in function of uptake mechanisms, metabolism, or feedback via prejunctional alpha-2 adrenoceptors, suggesting ...
journal_title：Neurobiology of aging
pub_type： 杂志文章
doi：10.1016/0197-4580(95)00054-i
更新日期：1995-09-01 00:00:00
