المؤلفون: Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India. drknvraju08@gmail.com., Siddiqa A; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka, 560029, India.

المصدر: Indian journal of pediatrics [Indian J Pediatr] 2024 May; Vol. 91 (5), pp. 521. Date of Electronic Publication: 2023 Dec 29.

نوع المنشور: Letter

بيانات الدورية: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Lipid Metabolism, Inborn Errors* , Status Epilepticus* , Acyl-CoA Dehydrogenases* , Spasms, Infantile* , Congenital Bone Marrow Failure Syndromes* , Muscular Diseases* , Mitochondrial Diseases*, Humans ; Spasm

SCR Disease Name: VLCAD deficiency

المؤلفون: Karunanidhi A; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA., Basu S; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA., Zhao XJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA., D'Annibale O; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA; Department of Human Genetics, School of Public Health, University of Pittsburgh; Pittsburgh, PA 15260, USA., Van't Land C; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA., Vockley J; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA; Department of Human Genetics, School of Public Health, University of Pittsburgh; Pittsburgh, PA 15260, USA., Mohsen AW; Division of Genetic and Genomic Medicine, Department of Pediatrics, School of Medicine, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh; Pittsburgh, PA 15224, USA; Department of Human Genetics, School of Public Health, University of Pittsburgh; Pittsburgh, PA 15260, USA. Electronic address: aam27@pitt.edu.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107689. Date of Electronic Publication: 2023 Aug 25.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Lipid Metabolism, Inborn Errors*/drug therapy , Lipid Metabolism, Inborn Errors*/genetics , Lipid Metabolism, Inborn Errors*/metabolism , Acyl-CoA Dehydrogenases*/genetics, Humans ; Animals ; Mice ; Acyl-CoA Dehydrogenase/genetics ; Fatty Acids/metabolism ; Liver/metabolism

SCR Disease Name: Medium chain acyl CoA dehydrogenase deficiency

المؤلفون: Narayanan B; Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA., Xia C; Department of Chemistry and Biochemistry, College of Arts and Sciences, University of North Florida, Jacksonville, FL, 32224, USA., McAndrew R; Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA.; Molecular Biophysics and Integrated Bioimaging, Lawrence Berkeley National Laboratory, Berkeley, CA, 94740, USA., Shen AL; McArdle Laboratory for Cancer Research, Department of Oncology, University of Wisconsin-Madison, Madison, WI, 53706, USA., Kim JP; Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI, 53226, USA. jjkim@mcw.edu.

المصدر: Scientific reports [Sci Rep] 2024 Jun 05; Vol. 14 (1), pp. 12976. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Acyl-CoA Dehydrogenase, Long-Chain*/metabolism , Acyl-CoA Dehydrogenase, Long-Chain*/genetics , Acyl-CoA Dehydrogenase, Long-Chain*/chemistry , Models, Molecular*, Substrate Specificity ; Humans ; Crystallography, X-Ray ; Catalytic Domain ; Acyl-CoA Dehydrogenases/metabolism ; Acyl-CoA Dehydrogenases/genetics ; Acyl-CoA Dehydrogenases/chemistry ; Protein Conformation ; Amino Acid Sequence

المؤلفون: Zhao XJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Mohsen AW; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, 15261, USA., Mihalik S; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Solo K; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Basu S; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Aliu E; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Shi H; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Kochersberger C; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Karunanidhi A; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Van't Land C; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA., Coughlan KA; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Siddiqui S; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Rice LM; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Hillier S; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Guadagnin E; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., DeAntonis C; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Giangrande PH; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Martini PGV; Moderna Therapeutics, Rare Diseases, Cambridge, MA, 02139, USA., Vockley J; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, 15224, USA.; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, 15261, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2023 Jul 04; Vol. 32 (14), pp. 2347-2356.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Fibroblasts*/metabolism , Acyl-CoA Dehydrogenases*, Humans ; Mice ; Animals ; Acyl-CoA Dehydrogenase/genetics ; Acyl-CoA Dehydrogenase/metabolism ; RNA, Messenger/genetics ; Disease Models, Animal

SCR Disease Name: Medium chain acyl CoA dehydrogenase deficiency

المؤلفون: Brauer N; Department of Pediatrics, Helios Klinikum, Krefeld, Germany., Maruta Y; Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan., Lisci M; Department of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.; Department of Immunobiology, University of Lausanne, Epalinges, Switzerland., Strege K; Department of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Oschlies I; Department of Pathology, Haematopathology Section and Lymph Node Registry, University Hospitals Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany., Nakamura H; Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan., Böhm S; Division of Pediatric Stem Cell Transplantation and Immunology, Clinic of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Lehmberg K; Division of Pediatric Stem Cell Transplantation and Immunology, Clinic of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Brandhoff L; Cologne Center for Genomics, University Hospital Cologne, Cologne, Germany., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran., Klapper W; Department of Pathology, Haematopathology Section and Lymph Node Registry, University Hospitals Schleswig-Holstein, Christian-Albrecht University, Kiel, Germany., Fukuda M; Department of Integrative Life Sciences, Graduate School of Life Sciences, Tohoku University, Sendai, Japan., Griffiths GM; Department of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Hennies HC; Cologne Center for Genomics, University Hospital Cologne, Cologne, Germany.; Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, United Kingdom., Niehues T; Department of Pediatrics, Helios Klinikum, Krefeld, Germany., Ammann S; Department of Medicine, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

المصدر: Frontiers in immunology [Front Immunol] 2023 Jun 14; Vol. 14, pp. 1151166. Date of Electronic Publication: 2023 Jun 14 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Acyl-CoA Dehydrogenases* , Immunologic Deficiency Syndromes*/genetics , Lymphoma* , Primary Immunodeficiency Diseases*/genetics, Humans ; Blister ; Energy Metabolism ; Genotype ; rab27 GTP-Binding Proteins/genetics

المؤلفون: Khan MT; Institute of Molecular Biology and Biotechnology (IMBB), The University of Lahore, Pakistan., Khan TA; Institute of Pathology and Diagnostic Medicine, Khyber Medical University, Phase V, Hayatabad, Peshawar, Khyber Pakhtunkhwa, 26000, Pakistan., Ahmad I; Department of Molecular Biology and Genetics. Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan., Muhammad S; Department of Chemistry, College of Science, King Khalid University, P.O. Box 9004, Abha 61413, Saudi Arabia., Wei DQ; State Key Laboratory of Microbial Metabolism, Shanghai-Islamabad-Belgrade Joint Innovation Center on Antibacterial Resistances, Joint Laboratory of International Cooperation in Metabolic and Developmental Sciences, Ministry of Education and School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai 200030, P.R. China.; Peng Cheng Laboratory, Vanke Cloud City Phase I Building 8, Xili Street, Nanshan District, Shenzhen, Guangdong, 518055, P.R. China.

المصدر: Briefings in functional genomics [Brief Funct Genomics] 2023 Apr 13; Vol. 22 (2), pp. 168-179.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101528229 Publication Model: Print Cited Medium: Internet ISSN: 2041-2657 (Electronic) Linking ISSN: 20412649 NLM ISO Abbreviation: Brief Funct Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Mycobacterium tuberculosis*/genetics , Acyl-CoA Dehydrogenases*/genetics , Acyl-CoA Dehydrogenases*/metabolism , Acyl-CoA Dehydrogenases*/pharmacology, Humans ; Membrane Transport Proteins/genetics ; Membrane Transport Proteins/metabolism ; Membrane Transport Proteins/pharmacology ; Microbial Sensitivity Tests ; Mutation/genetics

المؤلفون: Jahn P; Equine Clinic, Faculty of Veterinary Medicine, University of Veterinary Sciences, Brno, Czech Republic., Dobešová D; Laboratory for Inherited Metabolic Disorders, Department of Clinical Biochemistry, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czech Republic., Brumarová R; Laboratory for Inherited Metabolic Disorders, Department of Clinical Biochemistry, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czech Republic., Tóthová K; Equine Clinic, Faculty of Veterinary Medicine, University of Veterinary Sciences, Brno, Czech Republic., Kopecká A; Equine Clinic, Faculty of Veterinary Medicine, University of Veterinary Sciences, Brno, Czech Republic., Friedecký D; Laboratory for Inherited Metabolic Disorders, Department of Clinical Biochemistry, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacký University Olomouc, Olomouc, Czech Republic.

المصدر: The veterinary quarterly [Vet Q] 2022 Dec; Vol. 42 (1), pp. 183-191.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 7909485 Publication Model: Print Cited Medium: Internet ISSN: 1875-5941 (Electronic) Linking ISSN: 01652176 NLM ISO Abbreviation: Vet Q Subsets: MEDLINE

مواضيع طبية MeSH: Acyl-CoA Dehydrogenases* , Horse Diseases*/diagnosis , Muscular Diseases*/diagnosis , Muscular Diseases*/veterinary, Animals ; Carnitine/analogs & derivatives ; Creatine Kinase ; Cyclopropanes ; Fatty Acids ; Glycine/analogs & derivatives ; Horses ; Hypoglycins ; Male

المؤلفون: Yuan C; Lab of Biorefinery, Shanghai Advanced Research Institutegrid.458506.a, Chinese Academy of Sciences, Pudong, Shanghai, China.; School of Life Science and Technology, ShanghaiTech University, Pudong, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China., Song S; Protein Engineering and Biopharmaceutical Sciences Laboratory, Hubei Unversity of Technology, Wuhan, Hubei, China., He J; Protein Engineering and Biopharmaceutical Sciences Laboratory, Hubei Unversity of Technology, Wuhan, Hubei, China., Zhang J; Lab of Biorefinery, Shanghai Advanced Research Institutegrid.458506.a, Chinese Academy of Sciences, Pudong, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China., Liu X; Lab of Biorefinery, Shanghai Advanced Research Institutegrid.458506.a, Chinese Academy of Sciences, Pudong, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China., Pena EL; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesotagrid.17635.36 - Twin Cities, Minneapolis, Minnesota, USA., Sun J; Lab of Biorefinery, Shanghai Advanced Research Institutegrid.458506.a, Chinese Academy of Sciences, Pudong, Shanghai, China.; School of Life Science and Technology, ShanghaiTech University, Pudong, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China., Shi J; Lab of Biorefinery, Shanghai Advanced Research Institutegrid.458506.a, Chinese Academy of Sciences, Pudong, Shanghai, China.; School of Life Science and Technology, ShanghaiTech University, Pudong, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China., Su Z; Protein Engineering and Biopharmaceutical Sciences Laboratory, Hubei Unversity of Technology, Wuhan, Hubei, China., Zhang B; Lab of Biorefinery, Shanghai Advanced Research Institutegrid.458506.a, Chinese Academy of Sciences, Pudong, Shanghai, China.; University of Chinese Academy of Sciences, Beijing, China.

المصدر: Applied and environmental microbiology [Appl Environ Microbiol] 2022 Nov 22; Vol. 88 (22), pp. e0130322. Date of Electronic Publication: 2022 Oct 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Microbiology Country of Publication: United States NLM ID: 7605801 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-5336 (Electronic) Linking ISSN: 00992240 NLM ISO Abbreviation: Appl Environ Microbiol Subsets: MEDLINE

مواضيع طبية MeSH: Phytosterols*/metabolism , Prodrugs* , Acyl-CoA Dehydrogenases*, Oxidoreductases/metabolism ; Enoyl-CoA Hydratase/genetics ; Enoyl-CoA Hydratase/metabolism ; Steroids/metabolism ; Acyl Coenzyme A ; Carboxylic Acids ; Ketosteroids ; Esters

SCR Organism: Mycolicibacterium neoaurum

المؤلفون: Balakrishnan K; Department of Biotechnology, Saroj Institute of Technology and Management (SITM), 12th KM Stone, Lucknow-Sultanpur Road, Lucknow, Uttar Pradesh, 226002, India. karkbioscience@gmail.com.

المصدر: Medical oncology (Northwood, London, England) [Med Oncol] 2022 Oct 08; Vol. 39 (12), pp. 247. Date of Electronic Publication: 2022 Oct 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 9435512 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-131X (Electronic) Linking ISSN: 13570560 NLM ISO Abbreviation: Med Oncol Subsets: MEDLINE

مواضيع طبية MeSH: Acyl-CoA Dehydrogenases*/metabolism , Carcinoma, Hepatocellular*/pathology , Liver Neoplasms*/pathology, Acetyl-CoA Carboxylase/genetics ; Acetyl-CoA Carboxylase/metabolism ; Carcinogenesis ; Fatty Acids/metabolism ; Glucose/metabolism ; Glutamine/metabolism ; Humans ; Metabolic Networks and Pathways ; Oxidoreductases ; Phosphoglycerate Kinase/metabolism ; Pyruvate Dehydrogenase Acetyl-Transferring Kinase ; Pyruvates

المؤلفون: Sultonova M; Department of Biology, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canada., Blackmore B; Department of Biology, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canada., Du R; Department of Biology, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canada., Philips O; Department of Biology, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canada., Paulo JA; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts, USA., Murphy JP; Department of Biology, University of Prince Edward Island, Charlottetown, Prince Edward Island, Canada.

المصدر: Proteomics [Proteomics] 2022 Oct; Vol. 22 (19-20), pp. e2100254. Date of Electronic Publication: 2022 Sep 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 101092707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1615-9861 (Electronic) Linking ISSN: 16159853 NLM ISO Abbreviation: Proteomics Subsets: MEDLINE

مواضيع طبية MeSH: Escherichia coli Proteins*/metabolism , Acyl-CoA Dehydrogenases*/metabolism, Humans ; Proteome/metabolism ; Escherichia coli/metabolism ; Proteomics/methods ; Ligands ; HEK293 Cells ; Nutrients ; Glucose/metabolism