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Reduced bifunctional protein activity

MedGen UID:
1841860
•Concept ID:
C5826894
•
Finding
Synonym: Reduced 17-beta-hydroxysteroid dehydrogenase 4 activity
 
HPO: HP:4000164

Definition

Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced bifunctional protein activity

Professional guidelines

PubMed

"Near Cure" treatment of severe acute EAE in MIF-1-deficient female and male mice with a bifunctional MHCII-derived molecular construct.
Vandenbark AA, Meza-Romero R, Wiedrick J, Gerstner G, Seifert H, Kent G, Piechycna M, Benedek G, Bucala R, Offner H
Cell Immunol 2022 Aug;378:104561. Epub 2022 Jun 11 doi: 10.1016/j.cellimm.2022.104561. PMID: 35738135Free PMC Article
Dual inhibition of TGF-β and PD-L1: a novel approach to cancer treatment.
Gulley JL, Schlom J, Barcellos-Hoff MH, Wang XJ, Seoane J, Audhuy F, Lan Y, Dussault I, Moustakas A
Mol Oncol 2022 Jun;16(11):2117-2134. Epub 2022 Jan 4 doi: 10.1002/1878-0261.13146. PMID: 34854206Free PMC Article
Cannabinoids in pain management: CB1, CB2 and non-classic receptor ligands.
Davis MP
Expert Opin Investig Drugs 2014 Aug;23(8):1123-40. Epub 2014 May 16 doi: 10.1517/13543784.2014.918603. PMID: 24836296

Recent clinical studies

Etiology

Bioorthogonal Decaging Reactions for Targeted Drug Activation.
Davies S, Stenton BJ, Bernardes GJL
Chimia (Aarau) 2018 Nov 30;72(11):771-776. doi: 10.2533/chimia.2018.771. PMID: 30514419
Development of a bifunctional filter for prion protein and leukoreduction of red blood cell components.
Yokomizo T, Kai T, Miura M, Ohto H
Transfusion 2015 Feb;55(2):330-6. Epub 2014 Sep 1 doi: 10.1111/trf.12839. PMID: 25178436
Cholesterol oxidase: biochemistry and structural features.
Vrielink A, Ghisla S
FEBS J 2009 Dec;276(23):6826-43. Epub 2009 Oct 16 doi: 10.1111/j.1742-4658.2009.07377.x. PMID: 19843169
Next generation multifunctional angiotensin receptor blockers.
Kurtz TW, Klein U
Hypertens Res 2009 Oct;32(10):826-34. Epub 2009 Aug 28 doi: 10.1038/hr.2009.135. PMID: 19713966
Endogenous glutathione adducts.
Blair IA
Curr Drug Metab 2006 Dec;7(8):853-72. doi: 10.2174/138920006779010601. PMID: 17168687

Diagnosis

D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.
Ognean ML, Mutică IB, Vișa GA, Șofariu CR, Matei C, Neamțu B, Cucerea M, Galiș R, Cocișiu GA, Mătăcuță-Bogdan IO
Int J Mol Sci 2024 Apr 30;25(9) doi: 10.3390/ijms25094924. PMID: 38732138Free PMC Article
Discovery of Imaging and Therapeutic Integration Bifunctional Molecules Based on Bio-Orthogonal Reaction and Releasable Disulfide Bond.
Wang J, Si R, Zhang Q, Lu W, Zhang J
Bioconjug Chem 2022 May 18;33(5):918-928. Epub 2022 May 3 doi: 10.1021/acs.bioconjchem.2c00133. PMID: 35504859
Waixenicin A, a marine-derived TRPM7 inhibitor: a promising CNS drug lead.
Sun HS, Horgen FD, Romo D, Hull KG, Kiledal SA, Fleig A, Feng ZP
Acta Pharmacol Sin 2020 Dec;41(12):1519-1524. Epub 2020 Sep 29 doi: 10.1038/s41401-020-00512-4. PMID: 32994545Free PMC Article
Bifunctional antibody and copper-based metal-organic framework nanocomposites for colorimetric α-fetoprotein sensing.
Hu X, Wei Z, Sun C, Long Y, Zheng H
Mikrochim Acta 2020 Jul 20;187(8):465. doi: 10.1007/s00604-020-04427-z. PMID: 32691158
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M
Hum Mutat 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. PMID: 24796702Free PMC Article

Therapy

What role will ensifentrine play in the future treatment of chronic obstructive pulmonary disease patients? Implications from recent clinical trials.
Cazzola M, Page C, Calzetta L, Singh D, Rogliani P, Matera MG
Immunotherapy 2023 Dec;15(18):1511-1519. Epub 2023 Oct 2 doi: 10.2217/imt-2023-0136. PMID: 37779474
Bifunctional μ opioid and σ(1) receptor ligands as novel analgesics with reduced side effects.
Zhuang T, Xiong J, Hao S, Du W, Liu Z, Liu B, Zhang G, Chen Y
Eur J Med Chem 2021 Nov 5;223:113658. Epub 2021 Jun 18 doi: 10.1016/j.ejmech.2021.113658. PMID: 34175542
Waixenicin A, a marine-derived TRPM7 inhibitor: a promising CNS drug lead.
Sun HS, Horgen FD, Romo D, Hull KG, Kiledal SA, Fleig A, Feng ZP
Acta Pharmacol Sin 2020 Dec;41(12):1519-1524. Epub 2020 Sep 29 doi: 10.1038/s41401-020-00512-4. PMID: 32994545Free PMC Article
Design and pharmaceutical applications of proteolysis-targeting chimeric molecules.
Liang Y, Nandakumar KS, Cheng K
Biochem Pharmacol 2020 Dec;182:114211. Epub 2020 Aug 29 doi: 10.1016/j.bcp.2020.114211. PMID: 32866456
Next generation multifunctional angiotensin receptor blockers.
Kurtz TW, Klein U
Hypertens Res 2009 Oct;32(10):826-34. Epub 2009 Aug 28 doi: 10.1038/hr.2009.135. PMID: 19713966

Prognosis

Discovery of Imaging and Therapeutic Integration Bifunctional Molecules Based on Bio-Orthogonal Reaction and Releasable Disulfide Bond.
Wang J, Si R, Zhang Q, Lu W, Zhang J
Bioconjug Chem 2022 May 18;33(5):918-928. Epub 2022 May 3 doi: 10.1021/acs.bioconjchem.2c00133. PMID: 35504859
D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang YH, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H
Am J Med Genet A 2022 Jan;188(1):357-363. Epub 2021 Oct 8 doi: 10.1002/ajmg.a.62520. PMID: 34623748Free PMC Article
Human pantothenate kinase 4 is a pseudo-pantothenate kinase.
Yao J, Subramanian C, Rock CO, Jackowski S
Protein Sci 2019 Jun;28(6):1031-1047. Epub 2019 Apr 17 doi: 10.1002/pro.3611. PMID: 30927326Free PMC Article
Multifunctional roles of PKCδ: Opportunities for targeted therapy in human disease.
Reyland ME, Jones DN
Pharmacol Ther 2016 Sep;165:1-13. Epub 2016 May 11 doi: 10.1016/j.pharmthera.2016.05.001. PMID: 27179744Free PMC Article
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M
Hum Mutat 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. PMID: 24796702Free PMC Article

Clinical prediction guides

Efficacy, safety, and biomarker analyses of bintrafusp alfa, a bifunctional fusion protein targeting TGF-β and PD-L1, in patients with advanced non-small cell lung cancer.
Rajan A, Abdul Sater H, Rahma O, Agajanian R, Lassoued W, Marté JL, Tsai YT, Donahue RN, Lamping E, Bailey S, Weisman A, Walter-Rodriguez B, Ito R, Vugmeyster Y, Sato M, Machl A, Schlom J, Gulley JL
J Immunother Cancer 2024 Mar 13;12(3) doi: 10.1136/jitc-2023-008480. PMID: 38485188Free PMC Article
A Novel Bifunctional μOR Agonist and σ(1)R Antagonist with Potent Analgesic Responses and Reduced Adverse Effects.
Miao Z, Zhong Y, Gan Y, Fu K, Liu W, Cao Z, Zhao T, Li Z, Hai A, Peng Y, Zuo Z, Zhang T, Hu S, Chen C, Kang T, Huang T, Guo D, Ke B
J Med Chem 2023 Dec 14;66(23):16257-16275. Epub 2023 Nov 28 doi: 10.1021/acs.jmedchem.3c01637. PMID: 38015878
Glutamyl-Prolyl-tRNA Synthetase Regulates Proline-Rich Pro-Fibrotic Protein Synthesis During Cardiac Fibrosis.
Wu J, Subbaiah KCV, Xie LH, Jiang F, Khor ES, Mickelsen D, Myers JR, Tang WHW, Yao P
Circ Res 2020 Aug 28;127(6):827-846. Epub 2020 Jul 1 doi: 10.1161/CIRCRESAHA.119.315999. PMID: 32611237Free PMC Article
Immunomodulation to enhance the efficacy of an HPV therapeutic vaccine.
Smalley Rumfield C, Pellom ST, Morillon Ii YM, Schlom J, Jochems C
J Immunother Cancer 2020 Jun;8(1) doi: 10.1136/jitc-2020-000612. PMID: 32554612Free PMC Article
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M
Hum Mutat 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. PMID: 24796702Free PMC Article

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