Search results for: ABCD1 Antibody
#32394691 2020/05/12 To Up
Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal AntibodiesAdrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA), primarily in the adrenal cortex and central nervous system. Approximately 35-40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Approximately 70-80% of boys with ALD have impaired adrenal function prior to the onset of neurologic symptoms. We present a boy who had recurrent episodes of hypoglycaemia from age two years and was diagnosed with adrenal insufficiency without adrenal antibodies at age 5.5 years. Following initial normal VLCFA levels, subsequent VLCFA analysis demonstrated elevated C26 fatty acids consistent with peroxisomal dysfunction and suggestive of ALD, which was confirmed via molecular genetic analysis of the gene. Brain imaging at age 7 suggested cerebral involvement and the child underwent successful allogeneic hematopoietic stem cell transplantation. At last assessment (11.5 years old), he was performing as expected for age. This case highlights the importance of pursuing a diagnosis when clinical suspicion remains, and the significance of VLCFA analysis for patients with adrenal insufficiency without adrenal antibodies in securing an ALD diagnosis. Subsequent brain imaging surveillance can detect early, pre-symptomatic cerebral disease, allowing for timely treatment and successful arrest of cerebral disease progression.
Michael R. Ryalls, Hoong-Wei Gan, James E. Davison
2567 related Products with: Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies100 UG100 μg100 μg100 μg2 Pieces/Box100.00 ug100 μg100 μg100 μg100 μg100 μg
#30031877 2018/07/19 To Up
Induction of peroxisomal changes in oligodendrocytes treated with 7-ketocholesterol: Attenuation by Î±-tocopherol.The involvement of organelles in cell death is well established especially for endoplasmic reticulum, lysosomes and mitochondria. However, the role of the peroxisome is not well known, though peroxisomal dysfunction favors a rupture of redox equilibrium. To study the role of peroxisomes in cell death, 158Â N murine oligodendrocytes were treated with 7-ketocholesterol (7Â KC: 25-50Â Î¼M, 24Â h). The highest concentration is known to induce oxiapoptophagy (OXIdative stressÂ +Â APOPTOsisÂ +Â autoPHAGY), whereas the lowest concentration does not induce cell death. In those conditions (with 7Â KC: 50Â Î¼M) morphological, topographical and functional peroxisome alterations associated with modifications of the cytoplasmic distribution of mitochondria, with mitochondrial dysfunction (loss of transmembrane mitochondrial potential, decreased level of cardiolipins) and oxidative stress were observed: presence of peroxisomes with abnormal sizes and shapes similar to those observed in Zellweger fibroblasts, lower cellular level of ABCD3, used as a marker of peroxisomal mass, measured by flow cytometry, lower mRNA and protein levels (measured by RT-qPCR and western blotting) of ABCD1 and ABCD3 (two ATP-dependent peroxisomal transporters), and of ACOX1 and MFP2 enzymes, and lower mRNA level of DHAPAT, involved in peroxisomal Î²-oxidation and plasmalogen synthesis, respectively, and increased levels of very long chain fatty acids (VLCFA: C24:0, C24:1, C26:0 and C26:1, quantified by gas chromatography coupled with mass spectrometry) metabolized by peroxisomal Î²-oxidation. In the presence of 7Â KC (25Â Î¼M), slight mitochondrial dysfunction and oxidative stress were found, and no induction of apoptosis was detected; however, modifications of the cytoplasmic distribution of mitochondria and clusters of mitochondria were detected. The peroxisomal alterations observed with 7Â KC (25Â Î¼M) were similar to those with 7Â KC (50Â Î¼M). In addition, data obtained by transmission electron microcopy and immunofluorescence microscopy by dual staining with antibodies raised against p62, involved in autophagy, and ABCD3, support that 7Â KC (25-50Â Î¼M) induces pexophagy. 7Â KC (25-50Â Î¼M)-induced side effects were attenuated by Î±-tocopherol but not by Î±-tocotrienol, whereas the anti-oxidant properties of these molecules determined with the FRAP assay were in the same range. These data provide evidences that 7Â KC, at concentrations inducing or not cell death, triggers morphological, topographical and functional peroxisomal alterations associated with minor or major mitochondrial changes.
Thomas Nury, Randa Sghaier, Amira Zarrouk, Franck MÃ©nÃ©trier, Tugba Uzun, Valerio Leoni, Claudio Caccia, Wiem Meddeb, Amira Namsi, Khouloud Sassi, Wafa Mihoubi, Jean-Marc Riedinger, Mustapha Cherkaoui-Malki, Thibault Moreau, Anne Vejux, GÃ©rard Lizard
2590 related Products with: Induction of peroxisomal changes in oligodendrocytes treated with 7-ketocholesterol: Attenuation by Î±-tocopherol.100.00 ug5mg400 ug100 μg100ml100100 μg100ug25
#29059709 2017/11/11 To Up
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.Mutations in ABCD1 cause the neurodegenerative disease, adrenoleukodystrophy, which manifests as the spinal cord axonopathy adrenomyeloneuropathy (AMN) in nearly all males surviving into adulthood. Microglial dysfunction has long been implicated in pathogenesis of brain disease, but its role in the spinal cord is unclear.
Yi Gong, Nikhil Sasidharan, Fiza Laheji, Matthew Frosch, Patricia Musolino, Rudy Tanzi, Doo Yeon Kim, Alessandra Biffi, Joseph El Khoury, Florian Eichler
2498 related Products with: Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.900 tests96 assays 100 μg24 tests1 kit20 100 assays100 tests100 assays48 assays 100 assays
#25301552 2014/10/06 To Up
Role of NH2-terminal hydrophobic motif in the subcellular localization of ATP-binding cassette protein subfamily D: common features in eukaryotic organisms.In mammals, four ATP-binding cassette (ABC) proteins belonging to subfamily D have been identified. ABCD1-3 possesses the NH2-terminal hydrophobic region and are targeted to peroxisomes, while ABCD4 lacking the region is targeted to the endoplasmic reticulum (ER). Based on hydropathy plot analysis, we found that several eukaryotes have ABCD protein homologs lacking the NH2-terminal hydrophobic segment (H0 motif). To investigate whether the role of the NH2-terminal H0 motif in subcellular localization is conserved across species, we expressed ABCD proteins from several species (metazoan, plant and fungi) in fusion with GFP in CHO cells and examined their subcellular localization. ABCD proteins possessing the NH2-terminal H0 motif were localized to peroxisomes, while ABCD proteins lacking this region lost this capacity. In addition, the deletion of the NH2-terminal H0 motif of ABCD protein resulted in their localization to the ER. These results suggest that the role of the NH2-terminal H0 motif in organelle targeting is widely conserved in living organisms.
Asaka Lee, Kota Asahina, Takumi Okamoto, Kosuke Kawaguchi, Dzmitry G Kostsin, Yoshinori Kashiwayama, Kojiro Takanashi, Kazufumi Yazaki, Tsuneo Imanaka, Masashi Morita
1662 related Products with: Role of NH2-terminal hydrophobic motif in the subcellular localization of ATP-binding cassette protein subfamily D: common features in eukaryotic organisms.100.00 ug100 μg100.00 ug96tests100.00 ug100.00 ug100.00 ug1 Set1 Set1 Set1 Set10
#23671276 2013/05/13 To Up
Impaired very long-chain acyl-CoA Î²-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.X-linked adrenoleukodystrophy (X-ALD), an inherited peroxisomal disorder, is caused by mutations in the ABCD1 gene encoding the peroxisomal ATP-binding cassette (ABC) transporter ABCD1 (adrenoleukodystrophy protein, ALDP). Biochemically, X-ALD is characterized by an accumulation of very long-chain fatty acids and partially impaired peroxisomal Î²-oxidation. In this study, we used primary human fibroblasts from X-ALD and Zellweger syndrome patients to investigate the peroxisomal Î²-oxidation defect. Our results show that the degradation of C26:0-CoA esters is as severely impaired as degradation of unesterified very long-chain fatty acids in X-ALD and is abolished in Zellweger syndrome. Interestingly, the Î²-oxidation rates for both C26:0-CoA and C22:0-CoA were similarly affected, although C22:0 does not accumulate in patient fibroblasts. Furthermore, we show that the Î²-oxidation defect in X-ALD is directly caused by ABCD1 dysfunction as blocking ABCD1 function with a specific antibody reduced Î²-oxidation to levels observed in X-ALD fibroblasts. By quantification of mRNA and protein levels of the peroxisomal ABC transporters and by blocking with specific antibodies, we found that residual Î²-oxidation activity toward C26:0-CoA in X-ALD fibroblasts is mediated by ABCD3, although the efficacy of ABCD3 appeared to be much lower than that of ABCD1. Finally, using isolated peroxisomes, we show that Î²-oxidation of C26:0-CoA is independent of additional CoA but requires a cytosolic factor of >10-kDa molecular mass that is resistant to N-ethylmaleimide and heat inactivation. In conclusion, our findings in human cells suggest that, in contrast to yeast cells, very long-chain acyl-CoA esters are transported into peroxisomes by ABCD1 independently of additional synthetase activity.
Christoph Wiesinger, Markus Kunze, GÃ¼nther Regelsberger, Sonja Forss-Petter, Johannes Berger
2302 related Products with: Impaired very long-chain acyl-CoA Î²-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.100 μg100ug Lyophilized100 μg100 μg50 ul100ug Lyophilized1mg100 μg100ug Lyophilized100ug Lyophilized100ug Lyophilized10
#23437103 2013/02/21 To Up
ABCD2 is a direct target of Î²-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy.X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene that encodes the peroxisomal ATP-binding cassette (ABC) transporter subfamily D member 1 protein (ABCD1), which is referred to as the adrenoleukodystrophy protein (ALDP). Induction of the ABCD2 gene, the closest homolog of ABCD1, has been mentioned as a possible therapeutic option for the defective ABCD1 protein in X-ALD. However, little is known about the transcriptional regulation of ABCD2 gene expression. Here, through in silico analysis, we found two putative TCF-4 binding elements between nucleotide positions -360 and -260 of the promoter region of the ABCD2 gene. The transcriptional activity of the ABCD2 promoter was strongly increased by ectopic expression of Î²-catenin and TCF-4. In addition, mutation of either or both TCF-4 binding elements by site-directed mutagenesis decreased promoter activity. This was further validated by the finding that Î²-catenin and the promoter of the ABCD2 gene were pulled down with a Î²-catenin antibody in a chromatin immunoprecipitation assay. Moreover, real-time PCR analysis revealed that Î²-catenin and TCF-4 increased mRNA levels of ABCD2 in both a hepatocellular carcinoma cell line and primary fibroblasts from an X-ALD patient. Interestingly, we found that the levels of very long chain fatty acids were decreased by ectopic expression of ABCD2-GFP as well as Î²-catenin and TCF-4. Taken together, our results demonstrate for the first time the direct regulation of ABCD2 by Î²-catenin and TCF-4.
Chul-Yong Park, Han-Soo Kim, Jiho Jang, Hyunji Lee, Jae Souk Lee, Jeong-Eun Yoo, Dongjin R Lee, Dong-Wook Kim
1505 related Products with: ABCD2 is a direct target of Î²-catenin and TCF-4: implications for X-linked adrenoleukodystrophy therapy.0.2 mg1 LITRE25 µg0.1 ml100 ml1 ml0.25 mg0.1 mg0.1ml (1mg/ml)25 µg100 TESTS0.1 mg
#23009600 2012/09/26 To Up
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.Adrenomyeloneuropathy (AMN) is one of several phenotypes of the adrenoleukodystrophy spectrum caused by mutations in the ABCD1 gene on the X chromosome. An inflammatory component is part of the disease complex ranging from severe childhood CNS demyelination to spinal cord and peripheral nerve degeneration.
Aia Elise JÃ¸nch, Else RubÃ¦k Danielsen, Carsten Thomsen, Per Meden, Kirsten Svenstrup, JÃ¸rgen Erik Nielsen
1902 related Products with: Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.1 Set1 Set100 μg5ug100 μg100 100 μg1 kit100 μg100 μg
#22914231 2012/08/21 To Up
Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease.The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28 leading to accumulation of very long chain fatty acids (VLCFA), progressive demyelination and adrenal insufficiency. An 8-year-old boy was referred to our paediatric endocrinology clinic due to fatigue and hyperpigmentation with onset at 2-years old. Blood tests revealed mineralocorticoid insufficiency. Serum adrenocorticotropic hormone and cortisol concentrations were compatible with adrenal insufficiency. Adrenal antibodies were negative. The elevated plasmatic concentration of VLCFA and the genotype analysis with sequencing of ABCD1 gene established the diagnosis of X-ALD. Brain MRI showed demyelination of white matter in the peritrigonal regions. Steroid replacement was started with good response. He initiated restriction of VLCFA by reducing the intake of fatty foods. The authors highlight the importance of suspecting of X-ALD in the aetiology of primary adrenal insufficiency as the first sign of the disease.
Marta Nascimento, NÃ¡dia Rodrigues, Filipa Espada, Marcelo Fonseca
2071 related Products with: Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease.50 UG96 tests1-99 mg/ml/ea price x 2
#22176151 // To Up
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
Marc Engelen, Anneke J van der Kooi, Stephan Kemp, Ronald J A Wanders, Erik A Sistermans, Hans R Waterham, Johannes T M Koelman, BjÃ¶rn M van Geel, Marianne de Visser
2587 related Products with: X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.1 kit1 kit1 kit(96 Wells)100 assays1 kit(96 Wells)96100 assays
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