Zobrazeno 1 - 10
of 1 775
pro vyhledávání: '"Methylmalonyl-CoA Mutase"'
Autor:
Gouda H; Departments of Biological Chemistry, University of Michigan, Ann Arbor, Michigan, USA., Ji Y; Department of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, Maryland, USA., Rath S; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA; Broad Institute, Cambridge, Massachusetts, USA., Watkins D; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Rosenblatt D; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Mootha V; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts, USA; Broad Institute, Cambridge, Massachusetts, USA., Jones JW; Department of Pharmaceutical Sciences, University of Maryland School of Pharmacy, Baltimore, Maryland, USA., Banerjee R; Departments of Biological Chemistry, University of Michigan, Ann Arbor, Michigan, USA. Electronic address: rbanerje@umich.edu.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2024 Sep; Vol. 300 (9), pp. 107662. Date of Electronic Publication: 2024 Aug 14.
Autor:
Ling S; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Wu S; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Children's Hospital, Zhengzhou, 450018, China., Shuai R; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Yu Y; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Qiu W; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Wei H; Department of Endocrinology and Metabolism, Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou Children's Hospital, Zhengzhou, 450018, China., Yang C; Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China., Xu P; Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China., Zou H; Center of Neonatal Disease Screening, Jinan Maternal and Child Health Care Hospital, Jinan, China., Feng J; Center of Neonatal Disease Screening, Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, China., Niu T; Center of Neonatal Disease Screening, Shandong Maternal and Child Health Care Hospital, Jinan, China., Hu H; Center of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei, China., Zhang H; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Liang L; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Wang Y; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Chen T; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Xu F; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Gu X; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China., Han L; Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. hanlianshu@xinhuamed.com.cn.
Publikováno v:
Human genomics [Hum Genomics] 2024 Jul 29; Vol. 18 (1), pp. 84. Date of Electronic Publication: 2024 Jul 29.
Autor:
Su L; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Sheng H; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Li X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Cai Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Mei H; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Cheng J; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Li D; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Lu Z; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Lin Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Chen X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Peng M; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Huang Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China., Zhang W; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China. zhw2001zhw@163.com., Liu L; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Tianhe District, Guangzhou, Guangdong, 510623, P.R. China. liliuchina@qq.com.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 May 15; Vol. 19 (1), pp. 198. Date of Electronic Publication: 2024 May 15.
Autor:
Wang X; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Cai Z; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wang Q; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wu C; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Sun Y; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wang Z; 01life Institute, Shenzhen, Guangdong 518000, China., Xu X; 01life Institute, Shenzhen, Guangdong 518000, China., Xue W; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Cao Z; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhang M; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhu Y; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Lin H; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhang Y; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Yuan M; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhao Y; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Gao A; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Yu Y; The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China., Bi Y; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Ning G; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: gning@sibs.ac.cn., Wang W; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: wqingw61@163.com., Wang J; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: jiqiuwang@163.com., Liu R; Department of Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai National Clinical Research Center for Metabolic Diseases, Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission of the PR China, Shanghai Key Laboratory for Endocrine Tumor, State Key Laboratory of Medical Genomics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: xiner198287@163.com.
Publikováno v:
Cell host & microbe [Cell Host Microbe] 2024 Jan 10; Vol. 32 (1), pp. 63-78.e7. Date of Electronic Publication: 2023 Dec 05.
Autor:
Vaccaro FA; Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Faber DA; Department of Biological Engineering, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Andree GA; Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Born DA; Graduate Program in Biophysics, Harvard University, Cambridge, Massachusetts, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Kang G; Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Fonseca DR; Amgen Scholar Program, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Jost M; Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Drennan CL; Department of Chemistry, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA; Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA. Electronic address: cdrennan@mit.edu.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2023 Sep; Vol. 299 (9), pp. 105109. Date of Electronic Publication: 2023 Jul 28.
Autor:
Gindt ME; Institute of Microbiology and Biotechnology, University of Bonn, Meckenheimer Allee 168, 53115, Bonn, Germany., Lück R; Institute of Microbiology and Biotechnology, University of Bonn, Meckenheimer Allee 168, 53115, Bonn, Germany., Deppenmeier U; Institute of Microbiology and Biotechnology, University of Bonn, Meckenheimer Allee 168, 53115, Bonn, Germany. udeppen@uni-bonn.de.
Publikováno v:
Applied microbiology and biotechnology [Appl Microbiol Biotechnol] 2024 Sep 16; Vol. 108 (1), pp. 465. Date of Electronic Publication: 2024 Sep 16.
Autor:
Coughlan KA; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA. Electronic address: Kimberly.Coughlan@modernatx.com., Eybye M; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Henderson N; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., DeAntonis CM; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Frassetto A; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Hanahoe E; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Ketova T; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Jacquinet E; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Presnyak V; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Jain R; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Marshall J; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA., Martini PGV; Rare Diseases, Moderna, Inc., Cambridge, MA 02139, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108560. Date of Electronic Publication: 2024 Aug 05.
Autor:
Lee D; Division of Biosystems and Biomedical Sciences, College of Health Sciences, Korea University, Seoul 02841, Republic of Korea., Park J; Division of Biosystems and Biomedical Sciences, College of Health Sciences, Korea University, Seoul 02841, Republic of Korea., Kim HS; Division of Biosystems and Biomedical Sciences, College of Health Sciences, Korea University, Seoul 02841, Republic of Korea.
Publikováno v:
Journal of microbiology and biotechnology [J Microbiol Biotechnol] 2024 Aug 28; Vol. 34 (8), pp. 1609-1616. Date of Electronic Publication: 2024 Jul 11.
Publikováno v:
Biochemistry [Biochemistry] 2024 Aug 06; Vol. 63 (15), pp. 1955-1962. Date of Electronic Publication: 2024 Jul 16.
Autor:
McCorvie TJ; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Ferreira D; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK.; Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Yue WW; Biosciences Institute, The Medical School, Newcastle University, Newcastle upon Tyne, UK., Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 May; Vol. 46 (3), pp. 406-420. Date of Electronic Publication: 2023 Feb 08.