المؤلفون: Blankestijn, Maaike, Bloks, Vincent W., Struik, Dicky, Huijkman, Nicolette, Kloosterhuis, Niels, Wolters, Justina C., Wanders, Ronald J. A., Vaz, Frederic M., Islinger, Markus, Kuipers, Folkert, van de Sluis, Bart, Groen, Albert K., Verkade, Henkjan J., Jonker, Johan W.

المصدر: Blankestijn , M , Bloks , V W , Struik , D , Huijkman , N , Kloosterhuis , N , Wolters , J C , Wanders , R J A , Vaz , F M , Islinger , M , Kuipers , F , van de Sluis , B , Groen , A K , Verkade , H J & Jonker , J W 2022 , ' Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism ' , Scientific Reports , vol. 12 , no. 1 , 2512 . https://doi.org/10.1038/s41598-022-06479-yTest

مصطلحات موضوعية: ACTIVATED RECEPTOR-ALPHA, METHYLACYL-COA RACEMASE, BILE-ACID SYNTHESIS, CHAIN FATTY-ACID, PPAR-ALPHA, PHYTANIC ACID, PRISTANIC ACID, MOUSE MODELS, PHYTOL, GENE

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/e7eef6b5-4c05-4dcf-b2fd-758f30a5746eTest

الإتاحة: https://doi.org/10.1038/s41598-022-06479-yTest
https://hdl.handle.net/11370/e7eef6b5-4c05-4dcf-b2fd-758f30a5746eTest
https://research.rug.nl/en/publications/e7eef6b5-4c05-4dcf-b2fd-758f30a5746eTest
https://pure.rug.nl/ws/files/204287274/s41598_022_06479_y.pdfTest

المؤلفون: Tomonori Nakanishi, Mayuko Anraku, Ryoji Suzuki, Tomoya Kono, Laurie Erickson, Satoshi Kawahara

المصدر: Journal of Functional Foods, Vol 21, Iss , Pp 283-289 (2016)

مصطلحات موضوعية: Phytanic aid, Phytol, Pristanic acid, Mouse T-cell, Cytokine production, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1756464615006325Test; https://doaj.org/toc/1756-4646Test

الوصول الحر: https://doaj.org/article/2c6b058dfd644ffa92e298b749e4b0bbTest

المؤلفون: M. Kurkina V., L. Melikyan P., A. Semyachkina N., E. Nikolaeva A., I. Akimova A., M. Petuhova S., A. Nikonov M., E. Lazareva V., I. Kurdeko V., S. Boronina N., Yu. Manenok N., L. Zelenkova A., A. Zemskov V., V. Voroncova P., S. Mihaylova V., E. Zakharova Yu., М. Куркина В., Л. Меликян П., А. Семячкина Н., Е. Николаева А., И. Акимова А., М. Петухова С., А. Никонов М., Е. Лазарева В., И. Курденко В., С. Боронина Н., Ю. Маненок Н., Л. Зеленькова А., А. Земсков В., В. Воронцова П., С. Михайлова В., Е. Захарова Ю.

المصدر: Medical Genetics; Том 17, № 8 (2018); 20-31 ; Медицинская генетика; Том 17, № 8 (2018); 20-31 ; 2073-7998

مصطلحات موضوعية: пероксисомные заболевания, биохимическая диагностика, ОДЦЖК, фитановая кислота, пристановая кислота, ГХ-МС, peroxisomal diseases, biochemical diagnostics, VLCFA, phytanic acid, pristanic acid, GC-MS

وصف الملف: application/pdf

العلاقة: https://www.medgen-journal.ru/jour/article/view/522/337Test; Кульпанович А.И., Наумчик И.В. Наследственные болезни обмена веществ: пероксисомные болезни // Медицинская панорама. - 2009 г.- №2. - С. 51-53.; Klouwer FC, Huffnagel IC, Ferdinandusse S et al. Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders. // Neuropediatrics. - 2016. - №47(4). - P. 205-220.; Захарова Е.Ю., Михайлова С.В., Руденская Г.Е. и др. Дифференциальная диагностики лейкодистфрофий детского возраста с установленным первичным дефектом // Мед. генетика. - 2004. - С. 453 - 459.; Taras Y. Nazarko. Pexophagy is responsible for 65% of cases of peroxisome biogenesis disorders. // Autophagy. - 2017. - 13(5). - P. 991-994.; Renaud M, Guissart C, Mallaret M et al. Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia. // J Neurol. - 2016. - 263(8). - P. 1552-8.; Краснопольская К.Д., Шехтер О.В., Руденская Г.Е. и др. Полиморфизм клинической манифестации детской церебральной формы Х-сцепленной адренолейкодистрофии // Неврол. журн. - 2000. - №1. - С. 9-14.; Ломоносова Е.З., Руденская Г.Е., Шехтер О.В. и др. Клинико-генеалогические, биохимические и молекулярно-генетические характеристики х-сцепленной адренолейкодистрофии. // Мед. генетика. - 2006. - 5(6). - С. 38-47.; Folch J., Lees M., Sloane-Stanley G.H. A simple method for the isolation and purification of total lipides from animal tissues. // J. Biol. Chem. - 1957. - 226. - P. 497-505.; Knapp D. R Handbook of analytical derivatization reactions. - 1979.; http://www.metagene.deTest/; http://www.hmdb.caTest/; Braverman N.E., Raymond G.V., Rizzo W.B. et al. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. // Mol Genet Metab. - 2016. - 117(3). - P. 313-21.; Matsumoto N., Tamura S, Furuki S. et al. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. // Am J Hum Genet. - 2003. - 73(2). - P. 233-46.; Furuki S., Tamura S., Matsumoto N. et al. Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex. // J Biol Chem. - 2006. - 281(3). - P. 1317-23.; Mоller G., Leenders F., van Grunsven E.G. et al. Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV. // J Steroid Biochem Mol Biol. - 1999. - 69(1-6). P. 441-6.; http://adrenoleukodystrophy.infoTest/; Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics. 2010 Nov 8;11(1):548. DOI:10.1186/1471-2105-11-548. PubMed: 21059217.; https://www.medgen-journal.ru/jour/article/view/522Test

الإتاحة: https://doi.org/10.25557/2073-7998.2018.08.20-31Test
https://doi.org/10.1186/1471-2105-11-548Test
https://www.medgen-journal.ru/jour/article/view/522Test

المؤلفون: Maaike Blankestijn, Vincent W. Bloks, Dicky Struik, Nicolette Huijkman, Niels Kloosterhuis, Justina C. Wolters, Ronald J. A. Wanders, Frédéric M. Vaz, Markus Islinger, Folkert Kuipers, Bart van de Sluis, Albert K. Groen, Henkjan J. Verkade, Johan W. Jonker

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE)

المصدر: Scientific Reports, 12(1):2512. Nature Publishing Group

مصطلحات موضوعية: BILE-ACID SYNTHESIS, PHYTANIC ACID, Multidisciplinary, PHYTOL, METHYLACYL-COA RACEMASE, MOUSE MODELS, PPAR-ALPHA, CHAIN FATTY-ACID, GENE, ACTIVATED RECEPTOR-ALPHA, PRISTANIC ACID

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21642e1a34633bbf7dfadca75fa4e4fcTest
https://doi.org/10.1038/s41598-022-06479-yTest

المؤلفون: T. Sunitha, Deepika Madireddy Lakshmi Naga, Venkateshwari Ananthapur, Pratibha Nallari, Rashmi Bhuwalka

المصدر: European Journal of Medical Case Reports. :256-259

مصطلحات موضوعية: Nervous system, Pristanic acid, medicine.medical_specialty, Fetus, Phytanic acid, business.industry, Genetic counseling, Peroxisome, Hypotonia, chemistry.chemical_compound, medicine.anatomical_structure, Endocrinology, chemistry, Internal medicine, medicine, lipids (amino acids, peptides, and proteins), medicine.symptom, business, Exome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::43e340cb4c29baba1bb180dc0656f5a4Test
https://doi.org/10.24911/ejmcr/173-1608540583Test

المؤلفون: Lucquin, Alexandre, Colonese, Andre C., Farrell, Thomas F. G., Craig, Oliver E.

المصدر: Lucquin , A , Colonese , A C , Farrell , T F G & Craig , O E 2016 , ' Utilising phytanic acid diastereomers for the characterisation of archaeological lipid residues in pottery samples ' , Tetrahedron Letters , vol. 57 , no. 6 , pp. 703-707 . https://doi.org/10.1016/j.tetlet.2016.01.011Test

مصطلحات موضوعية: Phytanic acid, Diastereomer, GC-c-IRMS, Biomarker, Archaeology, Residue analysis, MARINE ANIMAL PRODUCTS, ISOPRENOID FATTY-ACIDS, FRESH-WATER, PREHISTORIC POTTERY, REFSUMS DISEASE, PRISTANIC ACID, ORGANIC MILK, VESSELS, RATIOS, PHYTOL

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/ef40d1af-99aa-47c1-99f7-b155818b1ba7Test

الإتاحة: https://doi.org/10.1016/j.tetlet.2016.01.011Test
https://hdl.handle.net/11370/ef40d1af-99aa-47c1-99f7-b155818b1ba7Test
https://research.rug.nl/en/publications/ef40d1af-99aa-47c1-99f7-b155818b1ba7Test
https://pure.rug.nl/ws/files/65908975/1_s2.0_S0040403916300119_main.pdfTest

المؤلفون: S. Ferdinandusse, H. Rusch, A.E.M. van Lint, G. Dacremont, R.J.A. Wanders, P. Vreken

المصدر: Journal of Lipid Research, Vol 43, Iss 3, Pp 438-444 (2002)

مصطلحات موضوعية: phytanic acid, pristanic acid, trimethylundecanoic acid, peroxisomal fatty acid oxidation disorders, diastereomers, (R)-1-phenylethylamine, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227520301504Test; https://doaj.org/toc/0022-2275Test

الوصول الحر: https://doaj.org/article/46fd108362d94302aa7c3445c20136c5Test

المؤلفون: Varun Anand, Alpana Kondekar, Radha Ghildiyal, Tanmay Khadpe

المصدر: Pediatric Review: International Journal of Pediatric Research. 6:76-80

مصطلحات موضوعية: Pristanic acid, Down syndrome, Zellweger syndrome, medicine.medical_specialty, business.industry, Peroxisome, medicine.disease, Phenotype, chemistry.chemical_compound, Metabolic pathway, Endocrinology, chemistry, Internal medicine, Organelle, medicine, business, Pipecolic acid

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cd41a7db4df736dbb654763caae94408Test
https://doi.org/10.17511/ijpr.2019.i02.05Test

المؤلفون: Leen Amery, Mark Fransen, Katelijne De Nys, Guy P. Mannaerts, Paul P. Van Veldhoven

المصدر: Journal of Lipid Research, Vol 41, Iss 11, Pp 1752-1759 (2000)

مصطلحات موضوعية: cholestanoic acid, pristanic acid, β-oxidation, peroxins, bile acids, epimerase, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227520319684Test; https://doaj.org/toc/0022-2275Test

الوصول الحر: https://doaj.org/article/3bbee4f61fcb4ef9999cdc3438e405f8Test

المؤلفون: Tomonori Nakanishi, Laurie Erickson, Kazuhiro Sugamoto, Satoshi Kawahara, Sayaka Yokoyama, Kazuhiro Kagamizono, Ryoji Suzuki, Hiroyuki Sakakibara

المصدر: The Journal of dairy research. 87(4)

مصطلحات موضوعية: Pristanic acid, medicine.medical_specialty, Phytanic acid, 030309 nutrition & dietetics, Linoleic acid, Adipose tissue, Palmitic acid, 03 medical and health sciences, chemistry.chemical_compound, Mice, Random Allocation, Internal medicine, medicine, Animals, chemistry.chemical_classification, 0303 health sciences, Fatty Acids, 0402 animal and dairy science, Fatty acid, 04 agricultural and veterinary sciences, General Medicine, 040201 dairy & animal science, Animal Feed, Diet, Mice, Inbred C57BL, Phytanic Acid, Endocrinology, chemistry, Adipose Tissue, Docosahexaenoic acid, Animal Science and Zoology, Female, Food Science, Polyunsaturated fatty acid

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0ecf2fea312917c95593e3e1a0e5405Test
https://pubmed.ncbi.nlm.nih.gov/33243312Test