المؤلفون: Taurino G; Laboratory of General Pathology, Department of Medicine and Surgery, University of Parma, Parma, Italy., Dander E; Tettamanti Center, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy., Chiu M; Laboratory of General Pathology, Department of Medicine and Surgery, University of Parma, Parma, Italy., Pozzi G; Laboratory of Human Anatomy, Department of Medicine and Surgery, University of Parma, Parma, Italy., Maccari C; Laboratory of Industrial Toxicology, Department of Medicine and Surgery, University of Parma, Parma, Italy., Starace R; Tettamanti Center, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy., Silvestri D; Tettamanti Center, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy., Griffini E; Laboratory of General Pathology, Department of Medicine and Surgery, University of Parma, Parma, Italy., Bianchi MG; Laboratory of General Pathology, Department of Medicine and Surgery, University of Parma, Parma, Italy.; MRH-Microbiome Research Hub, Parco Area Delle Scienze 11/A, University of Parma, Parma, Italy., Carubbi C; Laboratory of Human Anatomy, Department of Medicine and Surgery, University of Parma, Parma, Italy., Andreoli R; Laboratory of Industrial Toxicology, Department of Medicine and Surgery, University of Parma, Parma, Italy.; CERT-Center of Excellence for Toxicological Research, University of Parma, Parma, Italy., Mirandola P; Laboratory of Human Anatomy, Department of Medicine and Surgery, University of Parma, Parma, Italy., Valsecchi MG; Biostatistics and Clinical Epidemiology, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.; School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy., Rizzari C; Department of Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy., D'Amico G; Tettamanti Center, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy., Bussolati O; Laboratory of General Pathology, Department of Medicine and Surgery, University of Parma, Parma, Italy.; MRH-Microbiome Research Hub, Parco Area Delle Scienze 11/A, University of Parma, Parma, Italy.

المصدر: British journal of haematology [Br J Haematol] 2024 Jul; Vol. 205 (1), pp. 175-188. Date of Electronic Publication: 2024 May 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Transport System ASC*/metabolism , Amino Acid Transport System ASC*/genetics , Asparagine*/metabolism , Minor Histocompatibility Antigens*/metabolism , Minor Histocompatibility Antigens*/genetics , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/metabolism , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/drug therapy , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/pathology , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics , Cell Survival*/drug effects, Humans ; Amino Acid Transport System A/metabolism ; Amino Acid Transport System A/genetics ; Cell Line, Tumor ; Asparaginase/pharmacology ; Asparaginase/therapeutic use ; Cell Proliferation/drug effects ; Child

المؤلفون: Dang TC; School of Pharmacy, University of Wisconsin-Madison, 777 Highland Avenue, Madison, Wisconsin 53705, United States., Fields L; Department of Chemistry, University of Wisconsin-Madison, 1101 University Avenue, Madison, Wisconsin 53706, United States., Li L; School of Pharmacy, University of Wisconsin-Madison, 777 Highland Avenue, Madison, Wisconsin 53705, United States.; Department of Chemistry, University of Wisconsin-Madison, 1101 University Avenue, Madison, Wisconsin 53706, United States.

المصدر: Journal of the American Society for Mass Spectrometry [J Am Soc Mass Spectrom] 2024 Aug 07; Vol. 35 (8), pp. 1902-1912. Date of Electronic Publication: 2024 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: ACS Publications Country of Publication: United States NLM ID: 9010412 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1123 (Electronic) Linking ISSN: 10440305 NLM ISO Abbreviation: J Am Soc Mass Spectrom Subsets: MEDLINE

مواضيع طبية MeSH: Databases, Protein* , Algorithms* , Proteomics*/methods , Peptides*/chemistry , Amino Acid Motifs*, Amino Acid Sequence ; Software ; Humans ; Animals

المؤلفون: Cabana VC; Département de Chimie, Université du Québec à Montréal, 2101, rue Jeanne-Mance, Montréal, QC H2X 2J6, Canada.; Centre d'Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Université du Québec à Montréal, Montréal, QC H2X 3Y7, Canada.; Regroupement québécois de recherche sur la fonction, l'ingénierie et les applications des protéines (PROTEO), Montréal, QC H3C 3P8, Canada., Sénécal AM; Département de Chimie, Université du Québec à Montréal, 2101, rue Jeanne-Mance, Montréal, QC H2X 2J6, Canada.; Centre d'Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Université du Québec à Montréal, Montréal, QC H2X 3Y7, Canada.; Regroupement québécois de recherche sur la fonction, l'ingénierie et les applications des protéines (PROTEO), Montréal, QC H3C 3P8, Canada., Bouchard AY; Département de Chimie, Université du Québec à Montréal, 2101, rue Jeanne-Mance, Montréal, QC H2X 2J6, Canada.; Centre d'Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Université du Québec à Montréal, Montréal, QC H2X 3Y7, Canada.; Regroupement québécois de recherche sur la fonction, l'ingénierie et les applications des protéines (PROTEO), Montréal, QC H3C 3P8, Canada., Kourrich S; Centre d'Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Université du Québec à Montréal, Montréal, QC H2X 3Y7, Canada.; Département des Sciences Biologiques, Université du Québec à Montréal, 141 avenue du Président-Kennedy, Montréal, QC H2X 3X8, Canada.; Center for Studies in Behavioral Neurobiology, Concordia University, Montreal, QC H4B 1R6, Canada., Cappadocia L; Département de Chimie, Université du Québec à Montréal, 2101, rue Jeanne-Mance, Montréal, QC H2X 2J6, Canada.; Centre d'Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Université du Québec à Montréal, Montréal, QC H2X 3Y7, Canada.; Regroupement québécois de recherche sur la fonction, l'ingénierie et les applications des protéines (PROTEO), Montréal, QC H3C 3P8, Canada., Lussier MP; Département de Chimie, Université du Québec à Montréal, 2101, rue Jeanne-Mance, Montréal, QC H2X 2J6, Canada.; Centre d'Excellence en Recherche sur les Maladies Orphelines - Fondation Courtois (CERMO-FC), Université du Québec à Montréal, Montréal, QC H2X 3Y7, Canada.; Regroupement québécois de recherche sur la fonction, l'ingénierie et les applications des protéines (PROTEO), Montréal, QC H3C 3P8, Canada.

المصدر: Journal of cell science [J Cell Sci] 2024 Sep 15; Vol. 137 (18). Date of Electronic Publication: 2024 Sep 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Company of Biologists Country of Publication: England NLM ID: 0052457 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1477-9137 (Electronic) Linking ISSN: 00219533 NLM ISO Abbreviation: J Cell Sci Subsets: MEDLINE

مواضيع طبية MeSH: Endosomes*/metabolism , Ubiquitin-Protein Ligases*/metabolism , Ubiquitin-Protein Ligases*/genetics , Amino Acid Motifs* , Protein Transport*, Humans ; HeLa Cells ; Protein Binding ; Golgi Apparatus/metabolism ; Amino Acid Sequence ; Adaptor Protein Complex 1/metabolism ; Adaptor Protein Complex 1/genetics

المؤلفون: Cui C; Tianjin Institute of Industrial Biotechnology, Chinese Academy of Sciences, Tianjin, China.; National Center of Technology Innovation for Synthetic Biology, Tianjin, China., Yang LJ; Tianjin Institute of Industrial Biotechnology, Chinese Academy of Sciences, Tianjin, China.; National Center of Technology Innovation for Synthetic Biology, Tianjin, China., Liu ZW; State Key Laboratory of Biocatalysis and Enzyme Engineering, Hubei Hongshan Laboratory, School of Life Sciences, Hubei University, Wuhan, China., Shu X; State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China., Zhang WW; National Genomics Data Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China., Gao Y; National Genomics Data Center, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China., Wang YX; State Key Laboratory of Biocatalysis and Enzyme Engineering, Hubei Hongshan Laboratory, School of Life Sciences, Hubei University, Wuhan, China., Wang T; State Key Laboratory of Biocatalysis and Enzyme Engineering, Hubei Hongshan Laboratory, School of Life Sciences, Hubei University, Wuhan, China., Chen CC; State Key Laboratory of Biocatalysis and Enzyme Engineering, Hubei Hongshan Laboratory, School of Life Sciences, Hubei University, Wuhan, China.; Zhejiang Key Laboratory of Medical Epigenetics, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, China., Guo RT; State Key Laboratory of Biocatalysis and Enzyme Engineering, Hubei Hongshan Laboratory, School of Life Sciences, Hubei University, Wuhan, China. guoreyting@hubu.edu.cn.; Zhejiang Key Laboratory of Medical Epigenetics, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, China. guoreyting@hubu.edu.cn., Gao SS; Tianjin Institute of Industrial Biotechnology, Chinese Academy of Sciences, Tianjin, China. gaoss@tib.cas.cn.; National Center of Technology Innovation for Synthetic Biology, Tianjin, China. gaoss@tib.cas.cn.; State Key Laboratory of Microbial Resources, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China. gaoss@tib.cas.cn.

المصدر: Nature communications [Nat Commun] 2024 Sep 03; Vol. 15 (1), pp. 7682. Date of Electronic Publication: 2024 Sep 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Dioxygenases*/metabolism , Dioxygenases*/genetics , Dioxygenases*/chemistry , Amino Acid Motifs*, Substrate Specificity ; Crystallography, X-Ray ; Hydroquinones/metabolism ; Bacterial Proteins/metabolism ; Bacterial Proteins/genetics ; Bacterial Proteins/chemistry ; Amino Acid Sequence ; Models, Molecular ; Sequence Alignment

المؤلفون: Yu J; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China., Xie J; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China., Ma Y; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China., Wei P; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China., Zhang P; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China., Tang Z; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China., Zhu X; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China., Zhangsun D; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China.; Key Laboratory of Tropical Biological Resources of Ministry of Education, Hainan University, Haikou 570228, China., Luo S; Guangxi Key Laboratory of Special Biomedicine, School of Medicine, Guangxi University, Nanning 530004, China.; Key Laboratory of Tropical Biological Resources of Ministry of Education, Hainan University, Haikou 570228, China.

المصدر: Marine drugs [Mar Drugs] 2024 Aug 29; Vol. 22 (9). Date of Electronic Publication: 2024 Aug 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101213729 Publication Model: Electronic Cited Medium: Internet ISSN: 1660-3397 (Electronic) Linking ISSN: 16603397 NLM ISO Abbreviation: Mar Drugs Subsets: MEDLINE

مواضيع طبية MeSH: Conotoxins*/pharmacology , Conotoxins*/chemistry , Conotoxins*/genetics , alpha7 Nicotinic Acetylcholine Receptor*/genetics , alpha7 Nicotinic Acetylcholine Receptor*/metabolism , Amino Acid Substitution*, Animals ; Structure-Activity Relationship ; Xenopus laevis ; Nicotinic Antagonists/pharmacology ; Nicotinic Antagonists/chemistry ; Amino Acid Sequence ; Humans

المؤلفون: Sarkar A; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Hildebrandt ER; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Patel KV; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Mai ET; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Shah SA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Kim JH; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA., Schmidt WK; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.

المصدر: G3 (Bethesda, Md.) [G3 (Bethesda)] 2024 Aug 07; Vol. 14 (8).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101566598 Publication Model: Print Cited Medium: Internet ISSN: 2160-1836 (Electronic) Linking ISSN: 21601836 NLM ISO Abbreviation: G3 (Bethesda) Subsets: MEDLINE

مواضيع طبية MeSH: Saccharomyces cerevisiae*/genetics , Saccharomyces cerevisiae*/metabolism , Amino Acid Motifs* , Alkyl and Aryl Transferases*/metabolism , Alkyl and Aryl Transferases*/genetics , Alkyl and Aryl Transferases*/chemistry, Substrate Specificity ; Saccharomyces cerevisiae Proteins/metabolism ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/chemistry ; Amino Acid Sequence ; Models, Molecular

المؤلفون: Sahu S; Department of Biotechnology, Maulana Abul Kalam Azad University of Technology, Haringhata, West Bengal, India., Banerjee R; Department of Biotechnology, Maulana Abul Kalam Azad University of Technology, Haringhata, West Bengal, India., Pal D; Department of Computational and Data Sciences, Indian Institute of Science, Bengaluru, Karnataka, India.

المصدر: Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2024 Aug; Vol. 42 (13), pp. 6882-6891. Date of Electronic Publication: 2023 Jul 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 8404176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-0254 (Electronic) Linking ISSN: 07391102 NLM ISO Abbreviation: J Biomol Struct Dyn Subsets: MEDLINE

مواضيع طبية MeSH: Molecular Dynamics Simulation* , Peptides*/chemistry , Amino Acid Motifs* , Protein Conformation*, Amino Acid Sequence ; Protein Structure, Secondary

المؤلفون: Ricker B; Department of Chemical Engineering and Materials Sciences, Michigan State University, East Lansing, MI, USA., Castellanos Franco EA; Department of Biomedical Engineering, Michigan State University, East Lansing, MI, USA., de Los Campos G; Department of Epidemiology and Biostatistics, Michigan State University, East Lansing, MI, USA.; Institute for Quantitative Health Science and Engineering, Michigan State University, East Lansing, MI, USA.; Department of Statistics and Probability, Michigan State University, East Lansing, MI, USA., Pelled G; Department of Mechanical Engineering, Michigan State University, East Lansing, MI, USA.; Department of Radiology, Michigan State University, East Lansing, MI, USA., Gilad AA; Department of Chemical Engineering and Materials Sciences, Michigan State University, East Lansing, MI, USA.; Department of Radiology, Michigan State University, East Lansing, MI, USA.

المصدر: Open biology [Open Biol] 2024 Jul; Vol. 14 (7), pp. 240092. Date of Electronic Publication: 2024 Jul 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Royal Society Pub Country of Publication: England NLM ID: 101580419 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2046-2441 (Electronic) Linking ISSN: 20462441 NLM ISO Abbreviation: Open Biol Subsets: MEDLINE

مواضيع طبية MeSH: Phylogeny* , Phenylalanine*/genetics , Phenylalanine*/metabolism , Phenylalanine*/chemistry , Fishes*/genetics , Amino Acid Motifs*, Animals ; Conserved Sequence ; Fish Proteins/genetics ; Fish Proteins/metabolism ; Fish Proteins/chemistry ; Amino Acid Sequence ; Electromagnetic Fields

المؤلفون: Verma S; National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India., Dangi RS; National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India., Rajak MK; National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India., Pal RK; National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India., Sundd M; National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India. Electronic address: monicasundd@nii.ac.in.

المصدر: Biochimica et biophysica acta. Proteins and proteomics [Biochim Biophys Acta Proteins Proteom] 2024 Jul 01; Vol. 1872 (4), pp. 141016. Date of Electronic Publication: 2024 Apr 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731734 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1454 (Electronic) Linking ISSN: 15709639 NLM ISO Abbreviation: Biochim Biophys Acta Proteins Proteom Subsets: MEDLINE

مواضيع طبية MeSH: Leishmania major*/metabolism , Leishmania major*/genetics , Amino Acid Motifs* , Protein Multimerization*, Acyl Coenzyme A/metabolism ; Acyl Coenzyme A/chemistry ; Crystallography, X-Ray ; Protein Binding ; Protozoan Proteins/chemistry ; Protozoan Proteins/metabolism ; Protozoan Proteins/genetics ; Amino Acid Sequence ; Models, Molecular ; Binding Sites

المؤلفون: Watanabe D; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan; Department of Pediatrics, Yamanashi University School of Medicine, Yamanashi, Japan., Tsujioka Y; Department of Radiology, Keio University School of Medicine, Tokyo, Japan., Nakato D; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Ohnishi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Tamai N; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Kijima T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Narumi S; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address: kkosaki@keio.jp.

المصدر: European journal of medical genetics [Eur J Med Genet] 2024 Oct; Vol. 71, pp. 104967. Date of Electronic Publication: 2024 Aug 14.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acid Metabolism, Inborn Errors*/genetics , Amino Acid Metabolism, Inborn Errors*/pathology, Humans ; Male ; Child ; Lung Diseases, Interstitial/genetics ; Lung Diseases, Interstitial/pathology ; Osteoarthropathy, Secondary Hypertrophic/genetics ; Osteoarthropathy, Secondary Hypertrophic/pathology ; Hypoxia/genetics ; Large Neutral Amino Acid-Transporter 1/genetics ; Large Neutral Amino Acid-Transporter 1/metabolism ; Mutation ; Amino Acid Transport System y+L

SCR Disease Name: Lysinuric Protein Intolerance