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https://www.readbyqxmd.com/read/28737695/predictive-structure-and-topology-of-peroxisomal-atp-binding-cassette-abc-transporters
#1
Pierre Andreoletti, Quentin Raas, Catherine Gondcaille, Mustapha Cherkaoui-Malki, Doriane Trompier, Stéphane Savary
The peroxisomal ATP-binding Cassette (ABC) transporters, which are called ABCD1, ABCD2 and ABCD3, are transmembrane proteins involved in the transport of various lipids that allow their degradation inside the organelle. Defective ABCD1 leads to the accumulation of very long-chain fatty acids and is associated with a complex and severe neurodegenerative disorder called X-linked adrenoleukodystrophy (X-ALD). Although the nucleotide-binding domain is highly conserved and characterized within the ABC transporters family, solid data are missing for the transmembrane domain (TMD) of ABCD proteins...
July 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28666219/lipid-induced-endoplasmic-reticulum-stress-in-x-linked-adrenoleukodystrophy
#2
Malu-Clair van de Beek, Rob Ofman, Inge Dijkstra, Frits Wijburg, Marc Engelen, Ronald Wanders, Stephan Kemp
X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease that is caused by mutations in the ABCD1 gene and characterized by elevated levels of very long-chain fatty acids (VLCFA) in plasma and tissues, with the most pronounced increase in the central nervous system. Virtually all male patients develop adrenal insufficiency and myelopathy (adrenomyeloneuropathy), but a subset develops a fatal cerebral demyelinating disease (known as cerebral ALD). Female patients may also develop myelopathy, but adrenal insufficiency or leukodystrophy are very rare...
June 27, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28601575/a-novel-mutation-in-abcd1-unveils-different-clinical-phenotypes-in-a-family-with-adrenoleukodystrophy
#3
M Margoni, F Soli, A Sangalli, M Bellizzi, E Cecchini, M Buganza
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene, highlighting the wide range of phenotypic manifestations of ALD and the importance of genetic screening before any pregnancy in asymptomatic women whose carrier status is unknown...
June 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28560570/effect-of-lorenzo-s-oil-on-hepatic-gene-expression-and-the-serum-fatty-acid-level-in-abcd1-deficient-mice
#4
Masashi Morita, Ayako Honda, Akira Kobayashi, Yuichi Watanabe, Shiro Watanabe, Kosuke Kawaguchi, Shigeo Takashima, Nobuyuki Shimozawa, Tsuneo Imanaka
Lorenzo's oil is known to decrease the saturated very long chain fatty acid (VLCFA) level in the plasma and skin fibroblasts of X-linked adrenoleukodystrophy (ALD) patients. However, the involvement of Lorenzo's oil in in vivo fatty acid metabolism has not been well elucidated. To investigate the effect of Lorenzo's oil on fatty acid metabolism, we analyzed the hepatic gene expression together with the serum fatty acid level in Lorenzo's oil-treated wild-type and abcd1-deficient mice. The change in the serum fatty acid level in Lorenzo's oil-treated abcd1-defcient mice was quite similar to that in the plasma fatty acid level in ALD patients supplemented with Lorenzo's oil...
May 31, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28493141/therapeutic-strategies-in-adrenoleukodystrophy
#5
Bela R Turk, Ann B Moser, Ali Fatemi
Adrenoleukodystrophy (ALD) is an X‑linked hereditary disorder due to mutations of the ABCD1 gene, which encodes a peroxisomal transport protein necessary for very long-chain fatty acid degradation (VLCFA). Toxic accumulation thereof is associated with a proinflammatory state and eventual cell death in multiple tissues. ALD may manifest either as a fatal, rapidly progressive demyelinating disease in boys and adult men, or as a slowly progressive adult-onset long-tract myelopathy along with peripheral neuropathy...
May 10, 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28481932/unmasking-adrenoleukodystrophy-in-a-cohort-of-cerebellar-ataxia
#6
Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong
Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene (ABCD1) were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia (n = 118), sporadic ataxia with autonomic dysfunctions (n = 296), and sporadic ataxia without autonomic dysfunctions (n = 102)...
2017: PloS One
https://www.readbyqxmd.com/read/28456143/a-first-case-of-adrenomyeloneuropathy-with-mutation-y174s-of-the-adrenoleukodystrophy-gene
#7
Yukio Horikawa, Mayumi Enya, Nobuaki Yoshikura, Junichi Kitagawa, Shigeo Takashima, Nobuyuki Shimozawa, Jun Takeda
The patient first noticed spasticity and weakness in his legs. He was diagnosed with chronic myelogenous leukemia (CML); the symptoms were attributed to neuropathy associated with CML. By treatment with dasatinib, he achieved complete hematological remission, but his difficulty in walking was not improved. His neurological symptom worsened together with an increase in body temperature and then disappeared together with a normalized body temperature, which may be attributed to the Uhthoff's phenomenon often observed in multiple sclerosis...
February 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28409470/flow-cytometric-analysis-of-the-expression-pattern-of-peroxisomal-proteins-abcd1-abcd2-and-abcd3-in-bv-2-murine-microglial-cells
#8
Meryam Debbabi, Thomas Nury, Imen Helali, El Mostafa Karym, Flore Geillon, Catherine Gondcaille, Doriane Trompier, Amina Najid, Sébastien Terreau, Maryem Bezine, Amira Zarrouk, Anne Vejux, Pierre Andreoletti, Mustapha Cherkaoui-Malki, Stéphane Savary, Gérard Lizard
Microglial cells play important roles in neurodegenerative diseases including peroxisomal leukodystrophies. The BV-2 murine immortalized cells are widely used in the context of neurodegenerative researches. It is therefore important to establish the expression pattern of peroxisomal proteins by flow cytometry in these cells. So, the expression pattern of various peroxisomal transporters (Abcd1, Abcd2, Abcd3) contributing to peroxisomal β-oxidation was evaluated on BV-2 cells by flow cytometry and complementary methods (fluorescence microscopy, and RT-qPCR)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28370438/differential-activities-of-peroxisomes-along-the-mouse-intestinal-epithelium
#9
Petruta L Morvay, Myriam Baes, Paul P Van Veldhoven
The presence of peroxisomes in mammalian intestine has been revealed formerly by catalase staining combined with electron microscopy. Despite the central role of intestine in lipid uptake and the established importance of peroxisomes in different lipid-related pathways, few data are available on the physiological role of peroxisomes in intestinal metabolism, more specifically, α-, β-oxidation, and etherlipid synthesis. Hence, the peroxisomal compartment was analyzed in more detail in mouse intestine. On the basis of immunohistochemistry, the organelles are mainly confined to the epithelial cells...
April 2017: Cell Biochemistry and Function
https://www.readbyqxmd.com/read/28274546/long-term-outcome-of-patients-with-x-linked-adrenoleukodystrophy-a-retrospective-cohort-study
#10
Christel Tran, Jaina Patel, Hewson Stacy, Eva G Mamak, Hanna Faghfoury, Julian Raiman, Joe T R Clarke, Susan Blaser, Saadet Mercimek-Mahmutoglu
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical insufficiency. We performed a retrospective cohort study to evaluate long-term outcome of patients with X-ALD. METHOD: All patients with X-ALD diagnosed between 1989 and 2012 were included. Electronic patient charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, neuroimaging, long-term outcome and treatment...
February 21, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28258215/peroxisomal-atp-binding-cassette-transporters-form-mainly-tetramers
#11
Flore Geillon, Catherine Gondcaille, Quentin Raas, Alexandre M M Dias, Delphine Pecqueur, Caroline Truntzer, Géraldine Lucchi, Patrick Ducoroy, Pierre Falson, Stéphane Savary, Doriane Trompier
ABCD1 and its homolog ABCD2 are peroxisomal ATP-binding cassette (ABC) half-transporters of fatty acyl-CoAs with both distinct and overlapping substrate specificities. Although it is established that ABC half-transporters have at least to dimerize to generate a functional unit, functional equivalents of tetramers (i.e. dimers of full-length transporters) have also been reported. However, oligomerization of peroxisomal ABCD transporters is incompletely understood but is of potential significance because more complex oligomerization might lead to differences in substrate specificity...
April 28, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28004277/tauroursodeoxycholic-bile-acid-arrests-axonal-degeneration-by-inhibiting-the-unfolded-protein-response-in-x-linked-adrenoleukodystrophy
#12
Nathalie Launay, Montserrat Ruiz, Laia Grau, Francisco J Ortega, Ekaterina V Ilieva, Juan José Martínez, Elena Galea, Isidre Ferrer, Erwin Knecht, Aurora Pujol, Stéphane Fourcade
The activation of the highly conserved unfolded protein response (UPR) is prominent in the pathogenesis of the most prevalent neurodegenerative disorders, such as Alzheimer's disease (AD), Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS), which are classically characterized by an accumulation of aggregated or misfolded proteins. This activation is orchestrated by three endoplasmic reticulum (ER) stress sensors: PERK, ATF6 and IRE1. These sensors transduce signals that induce the expression of the UPR gene programme...
February 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/27934597/generation-of-human-embryonic-stem-cells-from-abnormal-blastocyst-diagnosed-with-adrenoleukodystrophy
#13
Qi Ouyang, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Yi Sun
Human embryonic stem cell (hESC) line chHES-480 was derived from abnormal blastocyst diagnosed with adrenoleukodystrophy (ALD) after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-480 cell line carried a hemizygous missense mutation c.1825G>A(p.Glu609Lys) of ABCD1 gene. Characteristic tests proved that the chHES-480 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
November 9, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27897980/protective-effects-of-%C3%AE-tocopherol-%C3%AE-tocopherol-and-oleic-acid-three-compounds-of-olive-oils-and-no-effect-of-trolox-on-7-ketocholesterol-induced-mitochondrial-and-peroxisomal-dysfunction-in-microglial-bv-2-cells
#14
Meryam Debbabi, Thomas Nury, Amira Zarrouk, Nadia Mekahli, Maryem Bezine, Randa Sghaier, Stéphane Grégoire, Lucy Martine, Philippe Durand, Emmanuelle Camus, Anne Vejux, Aymen Jabrane, Lionel Bretillon, Michel Prost, Thibault Moreau, Sofien Ben Ammou, Mohamed Hammami, Gérard Lizard
Lipid peroxidation products, such as 7-ketocholesterol (7KC), may be increased in the body fluids and tissues of patients with neurodegenerative diseases and trigger microglial dysfunction involved in neurodegeneration. It is therefore important to identify synthetic and natural molecules able to impair the toxic effects of 7KC. We determined the impact of 7KC on murine microglial BV-2 cells, especially its ability to trigger mitochondrial and peroxisomal dysfunction, and evaluated the protective effects of α- and γ-tocopherol, Trolox, and oleic acid (OA)...
November 25, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27824156/genomic-and-transcriptomic-profiling-of-resistant-cem-adr-5000-and-sensitive-ccrf-cem-leukaemia-cells-for-unravelling-the-full-complexity-of-multi-factorial-multidrug-resistance
#15
Onat Kadioglu, Jingming Cao, Nadezda Kosyakova, Kristin Mrasek, Thomas Liehr, Thomas Efferth
We systematically characterised multifactorial multidrug resistance (MDR) in CEM/ADR5000 cells, a doxorubicin-resistant sub-line derived from drug-sensitive, parental CCRF-CEM cells developed in vitro. RNA sequencing and network analyses (Ingenuity Pathway Analysis) were performed. Chromosomal aberrations were identified by array-comparative genomic hybridisation (aCGH) and multicolour fluorescence in situ hybridisation (mFISH). Fifteen ATP-binding cassette transporters and numerous new genes were overexpressed in CEM/ADR5000 cells...
November 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27779191/25-hydroxycholesterol-contributes-to-cerebral-inflammation-of-x-linked-adrenoleukodystrophy-through-activation-of-the-nlrp3-inflammasome
#16
Jiho Jang, Sangjun Park, Hye Jin Hur, Hyun-Ju Cho, Inhwa Hwang, Yun Pyo Kang, Isak Im, Hyunji Lee, Eunju Lee, Wonsuk Yang, Hoon-Chul Kang, Sung Won Kwon, Je-Wook Yu, Dong-Wook Kim
X-linked adrenoleukodystrophy (X-ALD), caused by an ABCD1 mutation, is a progressive neurodegenerative disorder associated with the accumulation of very long-chain fatty acids (VLCFA). Cerebral inflammatory demyelination is the major feature of childhood cerebral ALD (CCALD), the most severe form of ALD, but its underlying mechanism remains poorly understood. Here, we identify the aberrant production of cholesterol 25-hydroxylase (CH25H) and 25-hydroxycholesterol (25-HC) in the cellular context of CCALD based on the analysis of ALD patient-derived induced pluripotent stem cells and ex vivo fibroblasts...
October 25, 2016: Nature Communications
https://www.readbyqxmd.com/read/27766264/abc-transporter-subfamily-d-distinct-differences-in-behavior-between-abcd1-3-and-abcd4-in-subcellular-localization-function-and-human-disease
#17
REVIEW
Kosuke Kawaguchi, Masashi Morita
ATP-binding cassette (ABC) transporters are one of the largest families of membrane-bound proteins and transport a wide variety of substrates across both extra- and intracellular membranes. They play a critical role in maintaining cellular homeostasis. To date, four ABC transporters belonging to subfamily D have been identified. ABCD1-3 and ABCD4 are localized to peroxisomes and lysosomes, respectively. ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27489563/an-abcd1-mutation-c-253dupc-caused-diverse-phenotypes-of-adrenoleukodystrophy-in-an-iranian-consanguineous-pedigree
#18
Masoud Mehrpour, Faeze Gohari, Majid Zaki Dizaji, Ali Ahani, May Christine V Malicdan, Babak Behnam
OBJECTIVES: Current study was the first to report a consanguineous Iranian pedigree with ABCD1 mutation. METHODS: Targeted molecular analysis was initially performed in three affected individuals in one family suspected to have X-ALD due to chronic progressive spasticity. Upon confirmation of genetic diagnosis, further neurologic and genetic evaluation of all family members was done. RESULTS: A mutation in ABCD1 was identified in 35 affected individuals (out 96 pedigree members)...
June 2016: Journal of Molecular and Genetic Medicine: An International Journal of Biomedical Research
https://www.readbyqxmd.com/read/27425035/cyp4f2-affects-phenotypic-outcome-in-adrenoleukodystrophy-by-modulating-the-clearance-of-very-long-chain-fatty-acids
#19
Catherine E van Engen, Rob Ofman, Inge M E Dijkstra, Tessa Jacobs van Goethem, Eveline Verheij, Jennifer Varin, Michel Vidaud, Ronald J A Wanders, Patrick Aubourg, Stephan Kemp, Mathieu Barbier
X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations in the ABCD1 gene. The phenotypic spectrum ranges from a fatal cerebral demyelinating disease in childhood (cerebral ALD) to a progressive myelopathy without cerebral involvement in adulthood (adrenomyeloneuropathy). Because ABCD1 mutations have no predictive value with respect to clinical outcome a role for modifier genes was postulated. We report that the CYP4F2 polymorphism rs2108622 increases the risk of developing cerebral ALD in Caucasian patients...
October 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27312864/adrenoleukodystrophy-neuroendocrine-pathogenesis-and-redefinition-of-natural-history
#20
REVIEW
Stephan Kemp, Irene C Huffnagel, Gabor E Linthorst, Ronald J Wanders, Marc Engelen
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in plasma and tissues. Virtually all men with ALD develop adrenal insufficiency and myelopathy. Approximately 60% of men develop progressive cerebral white matter lesions (known as cerebral ALD). However, one cannot identify these individuals until the early changes are seen using brain imaging...
October 2016: Nature Reviews. Endocrinology
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