Abstract:
:X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder characterized by abnormal accumulation of saturated very long chain fatty acids in tissues and body fluids with predominance in brain white matter and adrenal cortex. The clinical phenotype is highly variable ranging from the severe childhood cerebral form to asymptomatic persons. The responsible ALD gene encodes the adrenoleukodystrophy protein (ALDP), a peroxisomal integral membrane protein that is a member of the ATP-binding cassette (ABC) transporter protein family. The patient gene mutations are heterogeneously distributed over the functional domains of ALDP. The extreme variability in clinical phenotype, even within one affected family, indicates that besides the ALD gene mutations other factors strongly influence the clinical phenotype. To understand the cell biology and function of mammalian peroxisomal ABC transporters and to determine their role in the pathogenesis of X-ALD we developed a system for expressing functional ABC protein domains in fusion with the maltose binding protein. Wild type and mutant fusion proteins of the nucleotide-binding fold were overexpressed, purified, and characterized by photoaffinity labeling with 8-azido ATP or 8-azido GTP and a coupled ATP regenerating enzyme assay for ATPase activity. Our studies provide evidence that peroxisomal ABC transporters utilize ATP to become a functional transporter and that ALD gene mutations alter peroxisomal transport function. The established disease model will be used further to study the influence of possible disease modifier proteins on ALDP function.
journal_name
Endocr Resjournal_title
Endocrine researchauthors
Gärtner J,Dehmel T,Klusmann A,Roerig Pdoi
10.1081/erc-120016999subject
Has Abstractpub_date
2002-11-01 00:00:00pages
741-8issue
4eissn
0743-5800issn
1532-4206journal_volume
28pub_type
杂志文章abstract::We studied whether the activation of rat brown adipose tissue (BAT) by cold exposure or by the administration of beta-3-noradrenergic agonist CGP-12177 could be prevented by the inhibition of thyroxine (T4) to triiodothyronine (T3) conversion. Hypothyroid rats were treated with replacement doses of T4, T4 plus iopanoi...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800009066164
更新日期:2000-05-01 00:00:00
abstract::We quantitated serial serum beta-hydroxybutyrate (beta-OHB) levels using the Ketosite method in 9 children with IDDM who were treated for diabetic ketoacidosis (DKA) and compared them to urinary ketone measurements by dipstick. Persistent elevations of serum beta-OHB were seen in six patients when the urine became cle...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-100107168
更新日期:2001-02-01 00:00:00
abstract::The CYP11B2 gene encodes aldosterone synthase, a cytochrome P450 (P450aldo) expressed in high levels in the adrenal zona glomerulosa. While the primary physiologic regulators of aldosterone production are circulating angiotensin II (Ang II) and potassium (K+) the action of these agents on CYP11B2 gene transcription ha...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809609043735
更新日期:1996-11-01 00:00:00
abstract::11 beta-hydroxysteroid dehydrogenase (11 beta-HSD) catalyzes the interconversion of cortisol (F) to inactive cortisone (E) in man (corticosterone (B) to 11-dehydrocorticosterone (A) in rodents) and plays a crucial role in regulating corticosteroid hormone action. Two isoforms of this enzyme have been characterized; a ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435809609043775
更新日期:1996-11-01 00:00:00
abstract:PURPOSE:Primary hyperparathyroidism (PHPT) has been associated with increased incidence of morbidity and mortality of the cardiovascular system. The pathogenetic mechanisms underlying this association are still not completely clear. A disintegrin and metalloproteinase with thrombospondin-like motifs (ADAMTS) play a cri...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800.2017.1368543
更新日期:2018-02-01 00:00:00
abstract::The determination of DNA ploidy and the study of the cell cycle in adrenocortical tumoral cells could help in the distinction between benign and malignant lesions and also in the prediction of the biological behaviour of these tumors. We analysed 32 cases of adrenal tissue (8 normal adrenals--N, 12 benign adenomas--A ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809809032700
更新日期:1998-08-01 00:00:00
abstract:UNLABELLED:It remains difficult to pre-operatively differentiate follicular carcinoma and adenoma even under intraoperative investigations including histopathologic diagnosis of frozen sections. METHODS:We retrospectively compared dual phase thallium (Tl-201) thyroid scan and fine-needle aspiration (FNA) cytology to d...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-120025036
更新日期:2003-08-01 00:00:00
abstract::Adrenocortical steroidogenesis is regulated in addition to a central regulation via the hypothalamus-pituitary-adrenal axis by intra-adrenal mechanisms involving the adrenal medulla. We could previously show that adrenocortical steroidogenesis is stimulated by co-culturing bovine adrenocortical cells with medullary ch...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800009048606
更新日期:2000-11-01 00:00:00
abstract::The effects of forskolin on the regulation of steroidogenesis and growth were examined in the Y1 adrenocortical tumor cell line, and the roles of cAMP and cAMP-dependent protein kinase in these actions of forskolin were evaluated. Forskolin, like corticotropin, stimulated steroidogenesis 3-fold and inhibited growth by...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435808509032978
更新日期:1985-01-01 00:00:00
abstract::The effect of crowding on the pituitary-gonadal axis was studied in adult male rats. Crowding reduced body weight gain, did not alter relative adrenal weight and increased relative testis weight. Neither basal levels of corticosterone nor its response to acute stress were altered by crowding. Likewise, LH secretion wa...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435808609035431
更新日期:1986-01-01 00:00:00
abstract::The adrenal cortex is a dynamic organ in which the cells of the outer cortex continually divide. It is well known that this cellular proliferation is dependent on constant stimulation from peptides derived from the ACTH precursor proopiomelanocortin (POMC) since disruption of pituitary corticotroph function results in...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-120016801
更新日期:2002-11-01 00:00:00
abstract::Y1 adrenocortical tumor cells possess amplified and overexpressed c-Ki-ras proto-oncogene, displaying chronic high levels of the c-Ki-Ras-GTP protein. Despite this oncogenic lesion, we previously reported that Y1 cells retain tight regulatory mechanisms of cell cycle control typified by the mitogenic response triggere...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-200043600
更新日期:2004-11-01 00:00:00
abstract::The effect of clomiphene on nuclear estrogen receptors of the Fallopian tube during ovum transport in the rabbit has been studied. Nuclear binding capacity was observed in ampulla (A), ampullary-isthmic junction (AIJ), isthmus (I), uterine-isthmic junction (UIJ) and uterus (U). Receptor concentration decreased in all ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435808909042745
更新日期:1989-01-01 00:00:00
abstract:AIMS/HYPOTHESIS:Glucose tolerance progressively declines with age, and there is a high prevalence of type 2 diabetes in the elderly people. Previous studies have reported the sex differences in risk for type 2 diabetes, especially in the elderly people, whereas reasons for these sex differences remain poorly understood...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2015.1124437
更新日期:2016-08-01 00:00:00
abstract:OBJECTIVE:Some similar factors, such as genetic susceptibility and subinflammation/autoimmunity, contribute to development of both polycystic ovary syndrome (PCOS) and Hashimoto's thyroiditis (HT), suggesting a potential pathogenic link between the two common disorders. In this study, we investigated the relationship b...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2015.1015730
更新日期:2015-01-01 00:00:00
abstract::Neuropeptide Y (NPY) and calcitonin gene-related peptide (CGRP) are both intrapancreatic neuropeptides that are known to inhibit stimulated insulin secretion. In the present study, we examined their influences on basal and stimulated glucagon and insulin secretion in the mouse. Either NPY or CGRP was injected intraven...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435808709035466
更新日期:1987-01-01 00:00:00
abstract::Two P450c11 genes, sharing 99% homology, were cloned from Cape baboon adrenal tissue using RT-PCR. The cDNAs showed 96% and 94.6% sequence identity to human P450c11 and aldosterone synthase, respectively. One of the gene sequences contained a termination codon in exon one. The cloned cDNAs were expressed in COS 1 cell...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800009048632
更新日期:2000-11-01 00:00:00
abstract::Thyroid dysfunction influences the levels of Von Willebrand factor (VWF:Ag). Plasma VWF:Ag levels in 35 hyperthyroid patients were significantly elevated, which had a positive correlation with both T3 (Triiodothyronine) and T4 (Thyroxine) levels. A follow-up study of seven hyperthyroid patients undergoing anti-thyroid...
journal_title:Endocrine research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3109/07435809309033019
更新日期:1993-01-01 00:00:00
abstract:PURPOSE:Adiponectin and chemerin have been reported their associations with insulin resistance and chronic inflammation. However, the relationship between adiponectin and chemerin themselves has not been fully elucidated. Therefore, we investigated the effects of changes in adiponectin and chemerin levels after a weigh...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800.2017.1300808
更新日期:2017-11-01 00:00:00
abstract::The cdc2 kinase family is known to be one of the important factors for cell proliferation in both yeast and mammalian cells. By using polyclonal antibodies against PSTAIRE region of cdc2HS, we studied the amount of cdc2-related kinases in the rat thyroid cell line, FRTL-5, during the cell cycle. The immunoreactive pro...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809409030404
更新日期:1994-05-01 00:00:00
abstract:AIM:To evaluate, retrospectively, the frequency of antithyroid antibodies (ATA) in patients with type 1 diabetes (T1D). MATERIALS AND METHODS:Antithyroperoxidase antibodies (TPO-Ab), antithyroglobulin antibodies (TG-Ab), and antithyroid-stimulating hormone receptor antibodies (TSHR-Ab) were determined by enzyme-linked...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2011.639318
更新日期:2012-01-01 00:00:00
abstract::Excessive aldosterone secretion in some hypertensive patients may result from abnormal aldosterone synthase (AS) gene regulation in response to changes in dietary sodium intake. We have utilized NCI-H295 cells, which exhibit stable angiotensin-induced aldosterone secretion, for transient transfections with murine AS/h...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809509030462
更新日期:1995-02-01 00:00:00
abstract::The MA-10 mouse Leydig tumor cell line produces large amounts of steroids only in response to hormonal stimulation while the R2C rat Leydig tumor cell line is constitutively steroidogenic in nature. In an effort to uncover the potential reasons for constitutive steroidogenesis in R2C cells, we have recently shown that...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-120016813
更新日期:2002-11-01 00:00:00
abstract:OBJECTIVES:The diagnosis and management of osteoporosis and osteoporotic fractures are challenging in rural and underdeveloped areas of China because medical resources are inaccessible; thus, a simple and accurate method is essential for the detection of vertebral fractures. We aimed to examine the relationship between...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435800.2020.1827263
更新日期:2021-02-01 00:00:00
abstract:BACKGROUND:Small dense low-density lipoprotein (sd-LDL) has been demonstrated to be associated with cardiovascular diseases (CVD). The proposed atherogenic properties of hypoadiponectinemia might be mediated through increased sd-LDL. In this study, the associations of sd-LDL with cardiovascular and other complications ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2014.913614
更新日期:2015-01-01 00:00:00
abstract::There are striking similarities between Cushing's syndrome and the 'metabolic syndrome X' since both are characterised by hypertension, insulin resistance, glucose intolerance, hyperlipidaemia, and central obesity. The possibility that cortisol contributes to the associations between multiple risk factors for cardiova...
journal_title:Endocrine research
pub_type: 杂志文章,评审
doi:10.1080/07435809609043765
更新日期:1996-11-01 00:00:00
abstract:UNLABELLED:Absract Purpose: Mutations in the TPO gene have been reported to cause congenital hypothyroidism (CH), and our aim in this study was to determine the genetic basis of congenital hypothyroidism in two affected children coming from a consanguineous family. METHODS:Since CH is usually inherited in autosomal re...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435800.2014.967354
更新日期:2015-01-01 00:00:00
abstract::In order to clarify the roles of cholinergic and serotonergic neurotransmission in the mediation of exercise-induced growth hormone (GH) release, normal young volunteers of both sexes were studied. Exercise was for 20 minutes at 800 kpm for the men and 500 kpm for the women. Pretreatment with 0.4 mg atropine 1 hour pr...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1080/07435808609035433
更新日期:1986-01-01 00:00:00
abstract::This study was performed on 18 postmenopausal female volunteers in order to examine changes in sex hormone binding globulin (SHBG), high density lipoprotein cholesterol (HDLC), total cholesterol (TC) and serum triglyceride (TG) levels in a period of four months of moderate physical exercise. While SHBG decreased signi...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.3109/07435809209111036
更新日期:1992-01-01 00:00:00
abstract::Adrenal computed tomography with determination of Hounsfield units has proved to be sensitive and specific in the differential diagnosis of benign vs. malign adrenal lesions. On the other hand, computed tomography may fail in patients with small adrenal masses of less than 1.0 cm. However, especially in patients with ...
journal_title:Endocrine research
pub_type: 杂志文章
doi:10.1081/erc-120017075
更新日期:2002-11-01 00:00:00