Identification of Novel Snps of ABCD1, ABCD2, ABCD3
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ABCG1 (ABC8), the Human Homolog of the Drosophila White Gene, Is a Regulator of Macrophage Cholesterol and Phospholipid Transport
ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport Jochen Klucken*, Christa Bu¨ chler*, Evelyn Orso´ *, Wolfgang E. Kaminski*, Mustafa Porsch-Ozcu¨ ¨ ru¨ mez*, Gerhard Liebisch*, Michael Kapinsky*, Wendy Diederich*, Wolfgang Drobnik*, Michael Dean†, Rando Allikmets‡, and Gerd Schmitz*§ *Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, 93042 Regensburg, Germany; †National Cancer Institute, Laboratory of Genomic Diversity, Frederick, MD 21702-1201; and ‡Departments of Ophthalmology and Pathology, Columbia University, Eye Research Addition, New York, NY 10032 Edited by Jan L. Breslow, The Rockefeller University, New York, NY, and approved November 3, 1999 (received for review June 14, 1999) Excessive uptake of atherogenic lipoproteins such as modified low- lesterol transport. Although several effector molecules have been density lipoprotein complexes by vascular macrophages leads to proposed to participate in macrophage cholesterol efflux (6, 9), foam cell formation, a critical step in atherogenesis. Cholesterol efflux including endogenous apolipoprotein E (10) and the cholesteryl mediated by high-density lipoproteins (HDL) constitutes a protective ester transfer protein (11), the detailed molecular mechanisms mechanism against macrophage lipid overloading. The molecular underlying cholesterol export in these cells have not yet been mechanisms underlying this reverse cholesterol transport process are characterized. currently not fully understood. To identify effector proteins that are Recently, mutations of the ATP-binding cassette (ABC) trans- involved in macrophage lipid uptake and release, we searched for porter ABCA1 gene have been causatively linked to familial HDL genes that are regulated during lipid influx and efflux in human deficiency and Tangier disease (12–14). -
Transient Ischaemic Attack (TIA) Prediction Rules
National Institute for Health and Care Excellence 1 Draft for consultation Stroke (update) Evidence review B: transient ischaemic attack (TIA) prediction rules NICE guideline Prognostic evidence review November 2018 Draft for consultation This evidence review was developed by the National Guideline Centre STROKE (UPDATE): DRAFT FOR CONSULTATION Contents 1 Disclaimer The recommendations in this guideline represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, professionals are expected to take this guideline fully into account, alongside the individual needs, preferences and values of their patients or service users. The recommendations in this guideline are not mandatory and the guideline does not override the responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and, where appropriate, their carer or guardian. Local commissioners and providers have a responsibility to enable the guideline to be applied when individual health professionals and their patients or service users wish to use it. They should do so in the context of local and national priorities for funding and developing services, and in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities. Nothing in this guideline should be interpreted in a way that would be inconsistent with compliance with those duties. NICE guidelines cover health and care in England. Decisions on how they apply in other UK countries are made by ministers in the Welsh Government, Scottish Government, and Northern Ireland Executive. -
Genome-Wide Identification of Whole ATP-Binding Cassette (ABC)
Jeong et al. BMC Genomics 2014, 15:651 http://www.biomedcentral.com/1471-2164/15/651 RESEARCH ARTICLE Open Access Genome-wide identification of whole ATP-binding cassette (ABC) transporters in the intertidal copepod Tigriopus japonicus Chang-Bum Jeong1, Bo-Mi Kim2, Jae-Seong Lee2* and Jae-Sung Rhee3* Abstract Backgrounds: The ATP-binding cassette (ABC) transporter superfamily is one of the largest transporter gene families and is observed in all animal taxa. Although a large set of transcriptomic data was recently assembled for several species of crustaceans, identification and annotation of the large ABC transporter gene family have been very challenging. Results: In the intertidal copepod Tigriopus japonicus, 46 putative ABC transporters were identified using in silico analysis, and their full-length cDNA sequences were characterized. Phylogenetic analysis revealed that the 46 T. japonicus ABC transporters are classified into eight subfamilies (A-H) that include all the members of all ABC subfamilies, consisting of five ABCA, five ABCB, 17 ABCC, three ABCD, one ABCE, three ABCF, seven ABCG, and five ABCH subfamilies. Of them, unique isotypic expansion of two clades of ABCC1 proteins was observed. Real-time RT-PCR-based heatmap analysis revealed that most T. japonicus ABC genes showed temporal transcriptional expression during copepod development. The overall transcriptional profile demonstrated that half of all T. japonicus ABC genes were strongly associated with at least one developmental stage. Of them, transcripts TJ-ABCH_88708 and TJ-ABCE1 were highly expressed during all developmental stages. Conclusions: The whole set of T. japonicus ABC genes and their phylogenetic relationships will provide a better understanding of the comparative evolution of essential gene family resources in arthropods, including the crustacean copepods. -
ABCD3 (F-1): Sc-514728
SANTA CRUZ BIOTECHNOLOGY, INC. ABCD3 (F-1): sc-514728 BACKGROUND APPLICATIONS The peroxisomal membrane contains several ATP-binding cassette (ABC) ABCD3 (F-1) is recommended for detection of ABCD3 of human origin by transporters, ABCD1-4 that are known to be present in the human peroxisome Western Blotting (starting dilution 1:100, dilution range 1:100-1:1000), membrane. All four proteins are ABC half-transporters, which dimerize to form immunoprecipitation [1-2 µg per 100-500 µg of total protein (1 ml of cell an active transporter. A mutation in the ABCD1 gene causes X-linked adreno- lysate)], immunofluorescence (starting dilution 1:50, dilution range 1:50- leukodystrophy (X-ALD), a peroxisomal disorder which affects lipid storage. 1:500) and solid phase ELISA (starting dilution 1:30, dilution range 1:30- ABCD2 in mouse is expressed at high levels in the brain and adrenal organs, 1:3000). which are adversely affected in X-ALD. The peroxisomal membrane comprises Suitable for use as control antibody for ABCD3 siRNA (h): sc-41147, ABCD3 two quantitatively major proteins, PMP22 and ABCD3. ABCD3 is associated shRNA Plasmid (h): sc-41147-SH and ABCD3 shRNA (h) Lentiviral Particles: with irregularly shaped vesicles which may be defective peroxisomes or per- sc-41147-V. oxisome precursors. ABCD1 localizes to peroxisomes. ABCB7 is a half-trans- porter involved in the transport of heme from the mitochondria to the cytosol. Molecular Weight of ABCD3: 75 kDa. Positive Controls: HeLa whole cell lysate: sc-2200, SH-SY5Y cell lysate: REFERENCES sc-3812 or Caco-2 cell lysate: sc-2262. -
PXR Modulates the Prostate Cancer Cell Response to Afatinib by Regulating the Expression of the Monocarboxylate Transporter SLC16A1
cancers Article PXR Modulates the Prostate Cancer Cell Response to Afatinib by Regulating the Expression of the Monocarboxylate Transporter SLC16A1 Alice Matheux 1,2,†, Matthieu Gassiot 1,†,‡ , Gaëlle Fromont 3 , Fanny Leenhardt 1,4 , Abdelhay Boulahtouf 1 , Eric Fabbrizio 1 , Candice Marchive 1, Aurélie Garcin 1 , Hanane Agherbi 1, Eve Combès 1, Alexandre Evrard 1,2,4 , Nadine Houédé 1,5 , Patrick Balaguer 1 ,Céline Gongora 1 , Litaty C. Mbatchi 1,2,4 and Philippe Pourquier 1,* 1 IRCM, Institut de Recherche en Cancérologie de Montpellier, INSERM U1194, Université de Montpellier, ICM, F-34298 Montpellier, France; [email protected] (A.M.); [email protected] (M.G.); [email protected] (F.L.); [email protected] (A.B.); [email protected] (E.F.); [email protected] (C.M.); [email protected] (A.G.); [email protected] (H.A.); [email protected] (E.C.); [email protected] (A.E.); [email protected] (N.H.); [email protected] (P.B.); [email protected] (C.G.); [email protected] (L.C.M.) 2 Laboratoire de Biochimie et Biologie Moléculaire, CHU Carémeau, F-30029 Nîmes, France 3 Département de Pathologie, CHU de Tours, Université François Rabelais, Inserm UMR 1069, F-37044 Tours, France; [email protected] 4 Laboratoire de Pharmacocinétique, Faculté de Pharmacie, Université de Montpellier, Citation: Matheux, A.; Gassiot, M.; F-34090 Montpellier, France 5 Département d’Oncologie Médicale, Institut de Cancérologie du Gard—CHU Carémeau, Fromont, G.; Leenhardt, F.; Boulahtouf, F-30029 Nîmes, France A.; Fabbrizio, E.; Marchive, C.; Garcin, * Correspondence: [email protected]; Tel.: +33-4-66-68-32-31 A.; Agherbi, H.; Combès, E.; et al. -
Transcriptional and Post-Transcriptional Regulation of ATP-Binding Cassette Transporter Expression
Transcriptional and Post-transcriptional Regulation of ATP-binding Cassette Transporter Expression by Aparna Chhibber DISSERTATION Submitted in partial satisfaction of the requirements for the degree of DOCTOR OF PHILOSOPHY in Pharmaceutical Sciences and Pbarmacogenomies in the Copyright 2014 by Aparna Chhibber ii Acknowledgements First and foremost, I would like to thank my advisor, Dr. Deanna Kroetz. More than just a research advisor, Deanna has clearly made it a priority to guide her students to become better scientists, and I am grateful for the countless hours she has spent editing papers, developing presentations, discussing research, and so much more. I would not have made it this far without her support and guidance. My thesis committee has provided valuable advice through the years. Dr. Nadav Ahituv in particular has been a source of support from my first year in the graduate program as my academic advisor, qualifying exam committee chair, and finally thesis committee member. Dr. Kathy Giacomini graciously stepped in as a member of my thesis committee in my 3rd year, and Dr. Steven Brenner provided valuable input as thesis committee member in my 2nd year. My labmates over the past five years have been incredible colleagues and friends. Dr. Svetlana Markova first welcomed me into the lab and taught me numerous laboratory techniques, and has always been willing to act as a sounding board. Michael Martin has been my partner-in-crime in the lab from the beginning, and has made my days in lab fly by. Dr. Yingmei Lui has made the lab run smoothly, and has always been willing to jump in to help me at a moment’s notice. -
ABC Transporter Subfamily D: Distinct Differences in Behavior Between ABCD1–3 and ABCD4 in Subcellular Localization, Function, and Human Disease
Hindawi Publishing Corporation BioMed Research International Volume 2016, Article ID 6786245, 11 pages http://dx.doi.org/10.1155/2016/6786245 Review Article ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1–3 and ABCD4 in Subcellular Localization, Function, and Human Disease Kosuke Kawaguchi and Masashi Morita Department of Biological Chemistry, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama 930-0194, Japan Correspondence should be addressed to Kosuke Kawaguchi; [email protected] Received 24 June 2016; Accepted 29 August 2016 Academic Editor: Hiroshi Nakagawa Copyright © 2016 K. Kawaguchi and M. Morita. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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. On the other hand, ABCD4 is deduced to take part in the transport of vitamin B12 from lysosomes into the cytosol. It is well known that the dysfunction of ABCD1 results in X-linked adrenoleukodystrophy, a severe neurodegenerative disease. -
ABCD2 Is a Direct Target of B-Catenin and TCF-4: Implications for X-Linked Adrenoleukodystrophy Therapy
ABCD2 Is a Direct Target of b-Catenin and TCF-4: Implications for X-Linked Adrenoleukodystrophy Therapy Chul-Yong Park1,2, Han-Soo Kim3, Jiho Jang1,2, Hyunji Lee1,2, Jae Souk Lee1,2,4, Jeong-Eun Yoo1,2,4, Dongjin R. Lee1,2,4, Dong-Wook Kim1,2,4* 1 Department of Physiology, Yonsei University College of Medicine, Seodaemun-gu, Seoul, Korea, 2 Severance Biomedical Research Institute, Yonsei University College of Medicine, Seoul, Korea, 3 Department of Laboratory Medicine and Cell Therapy Center, Yonsei University College of Medicine, Seoul, Korea, 4 Brain Korea 21 Project for Medical Science, Yonsei University College of Medicine, Seoul, Korea Abstract 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 2360 and 2260 of the promoter region of the ABCD2 gene. The transcriptional activity of the ABCD2 promoter was strongly increased by ectopic expression of b-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 b-catenin and the promoter of the ABCD2 gene were pulled down with a b-catenin antibody in a chromatin immunoprecipitation assay. -
Binding Cassette Proteins (ABCB1 and ABCC1)
South Dakota State University Open PRAIRIE: Open Public Research Access Institutional Repository and Information Exchange Electronic Theses and Dissertations 2021 Characterization of Cucurbitacin-Inspired Estrone Analogues as Novel Inhibitors of Human ATP- Binding Cassette Proteins (ABCB1 and ABCC1) Jennifer Kyeremateng South Dakota State University Follow this and additional works at: https://openprairie.sdstate.edu/etd Part of the Biochemistry Commons, Medical Biochemistry Commons, and the Oncology Commons Recommended Citation Kyeremateng, Jennifer, "Characterization of Cucurbitacin-Inspired Estrone Analogues as Novel Inhibitors of Human ATP- Binding Cassette Proteins (ABCB1 and ABCC1)" (2021). Electronic Theses and Dissertations. 5212. https://openprairie.sdstate.edu/etd/5212 This Dissertation - Open Access is brought to you for free and open access by Open PRAIRIE: Open Public Research Access Institutional Repository and Information Exchange. It has been accepted for inclusion in Electronic Theses and Dissertations by an authorized administrator of Open PRAIRIE: Open Public Research Access Institutional Repository and Information Exchange. For more information, please contact [email protected]. CHARACTERIZATION OF CUCURBITACIN -INSPIRED ESTRONE ANALOGUES AS NOVEL INHIBITORS OF HUMAN ATP-BINDING CASSETTE PROTEINS (ABCB1 AND ABCC1) BY JENNIFER KYEREMATENG A dissertation submitted in partial fulfillment of the requirements for the Doctor of Philosophy Major in Biochemistry South Dakota State University 2021 ii DISSERTATION ACCEPTANCE PAGE Jennifer Kyeremateng This dissertation is approved as a creditable and independent investigation by a candidate for the Doctor of Philosophy degree and is acceptable for meeting the dissertation requirements for this degree. Acceptance of this does not imply that the conclusions reached by the candidate are necessarily the conclusions of the major department. -
ABC Transporter Regulation by Protein Phosphorylation in Plant and Mammalian Systems
View metadata, citation and similar papers at core.ac.uk brought to you by CORE Published in "Biochemical Society Transactions 44(2): 663–673, 2016" provided by RERO DOC Digital Library which should be cited to refer to this work. Correction: Learning from each other: ABC transporter regulation by protein phosphorylation in plant and mammalian systems Bibek Aryal*, Christophe Laurent* and Markus Geisler*1 *Department of Biology – Plant Biology, University of Fribourg, Rue Albert Gockel 3, PER04, CH-1700 Fribourg, Switzerland An incorrect version of the article was published in volume Importance of mammalian ABC 43 (issue 5) 966-974 (doi: 10.1042/BST20150128); the correct transporters version of the complete article is presented here. ATP-binding cassette (ABC) transporters are integral membrane proteins ubiquitously present in all phyla [1]. They use the energy of nucleoside triphosphate (mainly ATP) Abstract hydrolysis to pump their substrates across the membrane The ABC (ATP-binding cassette) transporter family in [1]. The list of described substrates is long and diverse and higher plants is highly expanded compared with those includes metabolic products, sugars, metal ions, hormones, of mammalians. Moreover, some members of the plant sterols, lipids and therapeutical drugs [1]. The ABC transport ABCB subfamily display very high substrate specificity nano-machinery encompasses two transmembrane domains compared with their mammalian counterparts that are often (TMDs) and two cytosolic nucleotide-binding domains associated with multidrug resistance (MDR) phenomena. In (NBDs). ATP hydrolysis results in a conformational change this review we highlight prominent functions of plant and of the NBDs, this in-turn brings the substrate across the mammalian ABC transporters and summarize our knowledge membrane in a unidirectional fashion [2]. -
Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating with Clinical Course of Breast Carcinoma
Physiol. Res. 64 (Suppl. 4): S549-S557, 2015 Whole Exome Sequencing Analysis of ABCC8 and ABCD2 Genes Associating With Clinical Course of Breast Carcinoma P. SOUCEK1,2, V. HLAVAC1,2,3, K. ELSNEROVA1,2,3, R. VACLAVIKOVA2, R. KOZEVNIKOVOVA4, K. RAUS5 1Biomedical Center, Faculty of Medicine in Pilsen, Charles University in Prague, Pilsen, Czech Republic, 2Toxicogenomics Unit, National Institute of Public Health, Prague, Czech Republic, 3Third Faculty of Medicine, Charles University in Prague, Prague, Czech Republic, 4Department of Oncosurgery, Medicon, Prague, Czech Republic, 5Institute for the Care for Mother and Child, Prague, Czech Republic Received September 17, 2015 Accepted October 2, 2015 Summary Charles University in Prague, Alej Svobody 76, 323 00 Pilsen, The aim of the present study was to introduce methods for Czech Republic. E-mail: [email protected] exome sequencing of two ATP-binding cassette (ABC) transporters ABCC8 and ABCD2 recently suggested to play Introduction a putative role in breast cancer progression and prognosis of patients. We performed next generation sequencing targeted at Breast cancer is the most common cancer in analysis of all exons in ABCC8 and ABCD2 genes and surrounding women and caused 471,000 deaths worldwide in 2013 noncoding sequences in blood DNA samples from 24 patients (Global Burden of Disease Cancer Collaboration 2015). with breast cancer. The revealed alterations were characterized A number of cellular processes that in some cases lead to the by in silico tools. We then compared the most frequent tumor resistance limits efficacy of breast cancer therapy. functionally relevant polymorphism rs757110 in ABCC8 with Multidrug resistance (MDR) to a variety of chemotherapy clinical data of patients. -
06-0718 Index: Benefits
State of California—Health and Human Services Agency Department of Health Care Services JENNIFER KENT EDMUND G. BROWN JR. DIRECTOR GOVERNOR DATE: July 10, 2018 N.L.: 06-0718 Index: Benefits TO: COUNTY CALIFORNIA CHILDREN’S SERVICES (CCS) ADMINISTRATORS, MEDICAL DIRECTORS, AND MEDICAL CONSULTANTS, INTEGRATED SYSTEMS OF CARE DIVISION (ISCD) STAFF, CCS PROGRAM-APPROVED SPECIAL CARE CENTERS (SCC) SUBJECT: AUTHORIZATION OF DIAGNOSTIC AND TREATMENT SERVICE FOR INFANTS REFERRED BY THE CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM FOR X-LINKED ADRENOLEUKODYSTROPHY (ALD) I. PURPOSE The purpose of this Numbered Letter is to establish CCS policy on the authorization of diagnostic and treatment services for X-linked ALD for individuals with a positive NBS test. II. BACKGROUND X-linked ALD is an inherited peroxisomal disorder in which accumulation of very long chain fatty acids (VCLFA) in the brain, spinal cord and adrenal glands leads to demyelination in the brain and spinal cord, and impaired adrenal corticoid function in the adrenal cortex. The condition results from the mutations of the ABCD1 gene on the X chromosome. The ABCD1 gene codes for the ALD protein, which facilitates transport of VLCFA into peroxisomes. Absence of the protein results in an inability to transport and degrade VLCFA. Over 1,000 mutations associated with ALD have been identified. The incidence is between 1 in 20,000 and 1 in 50,000 births. There are multiple presentations of ALD, including childhood cerebral ALD, adolescent cerebral ALD, ‘Addison’s disease only’ and adrenomyeloneuropathy (AMN). Childhood cerebral ALD most commonly presents in boys between the ages of four to eight years old, with intellectual or behavioral impairments.