In-silico Analysis of Adenosine Deaminase: From Gene Sequence Retrieval to Clinical Implications and Drug Targets

Authors: Fangzhen Shan, Sajid Ali, Hassan Khan, Hamza Ali, Ayelet Rahat, Rafi Ullah

Source: Journal of Health and Rehabilitation Research. 4:1268-1274

Subject Terms: Molecular Physiology of Purinergic Signalling, Adenosine, Physiology, 4. Education, In silico, Life Sciences, Adenosine Receptors, Gene, Biochemistry, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Computational biology, Role of Fibroblast Activation in Cancer Progression, Druggability, Adenosine deaminase, Oncology, FOS: Biological sciences, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Medicine, Molecular Biology, Biology

Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy

Authors: Mariem Ben Saïd, Olfa Jallouli, A. Aissa, Amal Souissi, Fatma Kamoun, Faiza Fakhfakh, Saber Masmoudi, Ikhlas Ben Ayed, Chahnez Triki

Source: Epilepsia Open
Epilepsia Open, Vol 9, Iss 5, Pp 1697-1709 (2024)

Subject Terms: Male, Adult, Sanger sequencing, Tunisia, Adolescent, diagnosis, Population, Encephalopathy, Gene, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Genetics, Humans, DNA sequencing, developmental and epileptic encephalopathy, RC346-429, Child, panel, Molecular Biology, Biology, Internal medicine, Epilepsy, High-Throughput Nucleotide Sequencing, Infant, Life Sciences, sequencing, Massive parallel sequencing, Standards and Guidelines for Genetic Variant Interpretation, 3. Good health, Nucleotide Metabolism and Enzyme Regulation, Environmental health, variant, Child, Preschool, FOS: Biological sciences, Mutation, Molecular Basis of Rett Syndrome and Related Disorders, Medicine, Original Article, Female, Neurology. Diseases of the nervous system, Spasms, Infantile, Neuroscience

Access URL: https://pubmed.ncbi.nlm.nih.gov/37867425
https://doaj.org/article/4b8f1de5496245df8ee7e1d0e2710950

A combined in silico approaches of 2D-QSAR, molecular docking, molecular dynamics and ADMET prediction of anti-cancer inhibitor activity for actinonin derivatives

Authors: Abdelmadjid Guendouzi, Lotfi Belkhiri, Abdelkrim Guendouzi, Tahar Mohamed Taha Derouiche, Abdelhamid Djekoun

Source: Journal of Biomolecular Structure and Dynamics. 42:119-133

Subject Terms: Computational chemistry, Drug Target Identification, Docking (animal), Quantitative Structure-Activity Relationship, Nursing, Molecular Dynamics Simulation, Molecular dynamics, FOS: Health sciences, Biochemistry, Gene, Computational biology, Role of Fibroblast Activation in Cancer Progression, Stereochemistry, Neoplasms, Biochemistry, Genetics and Molecular Biology, Health Sciences, Humans, Molecular Biology, Biology, In silico, Protein Data Bank (RCSB PDB), Life Sciences, Nucleotide Metabolism and Enzyme Regulation, Molecular Docking, 3. Good health, Molecular Docking Simulation, Chemistry, Oncology, Computational Theory and Mathematics, Computer Science, Physical Sciences, Medicine, Quantitative structure–activity relationship, Computational Methods in Drug Discovery, Molecular descriptor

Access URL: https://pubmed.ncbi.nlm.nih.gov/36995063

High risk genetic variants of human insulin receptor substrate 1(IRS1) infer structural instability and functional interference

Authors: Arittra Bhattacharjee, S. M. Al Muied Pranto, Ishtiaque Ahammad, Zeshan Mahmud Chowdhury, Farha Matin Juliana, Keshob Chandra Das, Chaman Ara Keya, Md Salimullah

Source: Journal of Biomolecular Structure and Dynamics. 41:15150-15164

Subject Terms: Kinase, Genotype, IRS1, IRS2, Gene, Endocrinology, Biochemistry, Genetics and Molecular Biology, Genetics, Humans, Insulin, Extracellular Signal-Regulated MAP Kinases, Molecular Biology, Biology, mTOR Signaling in Growth and Disease, Adaptor Proteins, Signal Transducing, Single-nucleotide polymorphism, Insulin Signaling, Life Sciences, Insulin resistance, Role of AMP-Activated Protein Kinase in Cellular Metabolism, Nucleotide Metabolism and Enzyme Regulation, Diabetes Mellitus, Type 2, FOS: Biological sciences, Insulin Receptor Substrate Proteins, Signal Transduction, Insulin receptor

Access URL: https://pubmed.ncbi.nlm.nih.gov/36907599

Characterization of vitamin D3 biotransformation by the cell lysate of Actinomyces hyovaginalis CCASU-A11-2

Authors: Ahmad M. Abbas, Walid F. Elkhatib, Mohammad Aboulwafa, Nadia A. Hassouna, Khaled M. Aboshanab

Source: AMB Express
AMB Express, Vol 14, Iss 1, Pp 1-10 (2024)

Subject Terms: 0301 basic medicine, Bioconversion, Organic chemistry, Actinomyces hyovaginalis, Microbiology, Biochemistry, 7. Clean energy, Vitamin, Pathology and Forensic Medicine, 12. Responsible consumption, Vitamin D and Health Outcomes, 03 medical and health sciences, Calcitriol, Biochemistry, Genetics and Molecular Biology, Health Sciences, Proximity-Dependent Protein Labeling in Living Cells, Fractionation, Cell lysate, Vitamin D, Molecular Biology, 0303 health sciences, Chromatography, Industrial fermentation, Life Sciences, Cell Biology, Elution, QR1-502, 6. Clean water, Nucleotide Metabolism and Enzyme Regulation, Chemistry, Lysis, Fermentation, Medicine, Original Article, Calcium, TP248.13-248.65, Biotechnology

Access URL: https://pubmed.ncbi.nlm.nih.gov/38658456
https://doaj.org/article/d1114129920145469c089cab25f1894f

A robust computational quest: Discovering potential hits to improve the treatment of pyrazinamide‐resistant Mycobacterium tuberculosis

Authors: Muhammad Shahab, Gabriel Christian de Farias Morais, Shopnil Akash, U. L. Fulco, Jonas Ivan Nobre Oliveira, Guojun Zheng, Shahina Akter

Source: J Cell Mol Med

Subject Terms: Virtual screening, FOS: Computer and information sciences, Bioinformatics, Antitubercular Agents, Microbial Sensitivity Tests, FOS: Health sciences, DNA Topoisomerases: Structure, Function, and Inhibition, Microbiology, Computational biology, Context (archaeology), Biochemistry, Genetics and Molecular Biology, Tuberculosis, Multidrug-Resistant, Health Sciences, Pathology, Humans, Tuberculosis, Extensively drug-resistant tuberculosis, Molecular Biology, Biology, Drug discovery, Life Sciences, Paleontology, Original Articles, Mycobacterium tuberculosis, Pyrazinamide, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Treatment, Infectious Diseases, Drug resistance, FOS: Biological sciences, Mutation, Medicine

Access URL: https://pubmed.ncbi.nlm.nih.gov/38634203

Discovery and Characterization of Synthesized and FDA-Approved Inhibitors of Clostridial and Bacillary Collagenases

Authors: Alaa Alhayek, Ahmed S. Abdelsamie, Esther Schönauer, Virgyl Camberlein, Evelyn Hutterer, Gernot Posselt, Jamil Serwanja, Constantin Blöchl, Christian G. Huber, Jörg Haupenthal, Hans Brandstetter, Silja Weßler, Anna K. H. Hirsch

Source: J Med Chem

Subject Terms: 0301 basic medicine, Staphylococcus aureus, Collagenase, Matrix Metalloproteinase Inhibitors, Microbiology, Biochemistry, 03 medical and health sciences, Protein Arginine Methylation in Mammals, Transition State Analogue Inhibitors, Bacillus cereus, In vitro, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Collagenases, Molecular Biology, Biology, Pharmacology, 0303 health sciences, Diphosphonates, Bacteria, Ecology, Life Sciences, Hematology, Proteases, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Chemistry, Microbial Collagenase, Management and Treatment of Hemophilia, Enzyme, FOS: Biological sciences, Medicine, Clostridium histolyticum, Repurposing

Access URL: https://pubmed.ncbi.nlm.nih.gov/36154055

GGPS1‐associated muscular dystrophy with and without hearing loss

Authors: Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araújo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sarkozy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

Contributors: Kaiyrzhanov, Rauan, Perry, Luke, Rocca, Clarissa, Zaki, Maha S., Hosny, Heba, Araujo Martins Moreno, Cristiane, Phadke, Rahul, Zaharieva, Irina, Camelo Gontijo, Clara, Beetz, Christian, Maroofian, Reza

Source: Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1465-1474 (2022)

Subject Terms: Duchenne muscular dystrophy, FOS: Computer and information sciences, 0301 basic medicine, Bioinformatics, Materials Science, Mutation, Missense, Neurosciences. Biological psychiatry. Neuropsychiatry, Deafness, Primary Ovarian Insufficiency, Pediatrics, Gene, Muscular Dystrophies, Genomic Instability, 03 medical and health sciences, Biochemistry, Genetics and Molecular Biology, Materials Chemistry, Genetics, Farnesyltranstransferase, Humans, Missense mutation, Disease, RC346-429, Hearing Loss, Molecular Biology, Internal medicine, Biology, Macromolecular Crystallography Techniques, Life Sciences, Geranyltranstransferase, Hearing loss, Audiology, Dimethylallyltranstransferase, Muscular dystrophy, Nucleotide Metabolism and Enzyme Regulation, Molecular Mechanisms of DNA Damage Response, 3. Good health, FOS: Biological sciences, Physical Sciences, Mutation, Medicine, Female, Neurology. Diseases of the nervous system, Brief Communications, RC321-571

Access URL: https://pubmed.ncbi.nlm.nih.gov/35869884
https://doaj.org/article/0069e864fab94067923113299b1deef1
https://resolver.sub.uni-goettingen.de/purl?gro-2/113820
https://mbexc.uni-goettingen.de/literature/publications/577
https://discovery-pp.ucl.ac.uk/id/eprint/10152618/

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Authors: Lígia S. Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Anett Kaune, Alice Urzì, Tania C. L. S. Spohr, Nikenza Viceconte, Sebastian Oppermann, Mohammed Alasel, Saeedeh Ebadat, Sadaf Iftikhar, Eresha Jasinge, Solaf M. Elsayed, Hoda Tomoum, Iman Marzouk, Anil Jalan, Agnė Čerkauskaitė, Rimantė Čerkauskienė, Tinatin Tkemaladze, Anjum Muhammad Nadeem, Iman Gamal El Din Mahmoud, Fawzia Amer Mossad, M. Kamel, Laila Selim, Huma Arshad Cheema, Omid Paknia, Claudia Cozma, Carlos Juaristi-Manrique, Pilar Guatibonza-Moreno, Tobias Böttcher, Florian Vogel, Jorge Pinto‐Basto, Aida M. Bertoli‐Avella, Péter Bauer

Source: Eur J Hum Genet

Subject Terms: Exome sequencing, FOS: Computer and information sciences, 0301 basic medicine, Genetic testing, DNA Copy Number Variations, Physiology, Bioinformatics, Gene, Article, 03 medical and health sciences, Metabolic Diseases, Biochemistry, Genetics and Molecular Biology, Exome Sequencing, Health Sciences, Genetics, Humans, Exome, Pakistan, Disease, Molecular Biology, Biology, Internal medicine, 0303 health sciences, Pathogenicity Prediction, Medical genetics, Cohort, High-Throughput Nucleotide Sequencing, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Phenotype, FOS: Biological sciences, Genetic diagnosis, Medicine, Lysosomal Storage Disorders in Human Health and Disease

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/35614200
https://hdl.handle.net/20.500.11767/142711
https://doi.org/10.1038/s41431-022-01119-5

Exploration of newly synthesized azo-thiohydantoins as the potential alkaline phosphatase inhibitors via advanced biochemical characterization and molecular modeling approaches

Authors: Hafiz Muhammad Attaullah, Syeda Abida Ejaz, Pervaiz Ali Channar, Aamer Saeed, Rabail Ujan, Seema Zargar, Sajid Ali Channar, Reshma Sahito, Tanveer A. Wani, Qamar Abbas

Source: BMC Chem
BMC Chemistry, Vol 18, Iss 1, Pp 1-15 (2024)

Subject Terms: 0301 basic medicine, Computational chemistry, Alternative medicine, Endocrinology, Diabetes and Metabolism, Docking (animal), Organic chemistry, Combinatorial chemistry, Nursing, Molecular dynamics, FOS: Health sciences, Global Burden of Leishmaniasis Incidence and Treatment, 03 medical and health sciences, Chemical engineering, Engineering, Stereochemistry, Biochemistry, Genetics and Molecular Biology, Health Sciences, Alkaline phosphatase, Pathology, Reactivity (psychology), QD1-999, Molecular Biology, FOS: Chemical engineering, MD simulations, 0303 health sciences, Carbon-13 NMR, Research, Public Health, Environmental and Occupational Health, Life Sciences, Fourier transform infrared spectroscopy, Azo, Alkaline Phosphatase, Regulation of Bone Mineralization and Alkaline Phosphatase, Nucleotide Metabolism and Enzyme Regulation, Chemistry, Solubility, Enzyme, Molecular docking, Density functional theory, Medicine, Azo-thiohydantoins

Access URL: https://pubmed.ncbi.nlm.nih.gov/38448974
https://doaj.org/article/4449324caed447fbba2bc345c550c950

Targeting MYC at the intersection between cancer metabolism and oncoimmunology

Authors: Simran Venkatraman, Brinda Balasubramanian, Chanitra Thuwajit, Jaroslaw Meller, Rutaiwan Tohtong, Somchai Chutipongtanate

Source: Front Immunol
Frontiers in Immunology, Vol 15 (2024)

Subject Terms: 0301 basic medicine, Cancer Research, Cell biology, Immunology, Cancer cell, MYC, Cancer research, Gene, Proto-Oncogene Proteins c-myc, Computational biology, 03 medical and health sciences, oncoimmunology, Neoplasms, Biochemistry, Genetics and Molecular Biology, Genetics, cancer, Humans, Molecular Biology, Biology, Endoplasmic Reticulum Stress and Unfolded Protein Response, immune evasion, Cancer, 0303 health sciences, Life Sciences, Reprogramming, Cell Biology, RC581-607, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Function (biology), FOS: Biological sciences, Cancer Cell Metabolism, Metabolic Reprogramming in Cancer Biology, Immunologic diseases. Allergy, Transcription factor, metabolism, Glycolysis

Access URL: https://pubmed.ncbi.nlm.nih.gov/38390324
https://doaj.org/article/c21297c950af4c5e95402930fd4df6dd

C-terminal region of Rv1039c (PPE15) protein of Mycobacterium tuberculosis targets host mitochondria to induce macrophage apoptosis

Authors: T Maria Priyanka, Sadhna Sharma, Monika Sharma

Subject Terms: Cell biology, Macrophage, Apoptosis, FOS: Health sciences, Terminal (telecommunication), Microbiology, In vitro, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Pathology, Tuberculosis, Mitochondrion, Molecular Biology, Biology, Host (biology), Life Sciences, Mycobacterium tuberculosis, Computer science, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Chemistry, Infectious Diseases, RNA Methylation and Modification in Gene Expression, FOS: Biological sciences, Telecommunications, Medicine

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review

Authors: Ismael Rivera, Letícia Nunes Campos, Daiana M. Ibañez Alegre, Fabiana N. del Puerto González, Federico Fernandez Zelcer, Delfina Borgobello, Ayla Gerk, Leonardo Sosa, Marcos Miretti, Carina F. Argüelles, Jorgelina Stegmann

Subject Terms: Physiology, Life Sciences, Computer science, Nucleotide Metabolism and Enzyme Regulation, Data science, 3. Good health, Enzyme Regulation, Glycogen Metabolism and Myoclonic Disorders, Rheumatology, FOS: Biological sciences, Biochemistry, Genetics and Molecular Biology, Health Sciences, Pathology, Medicine, Disease, Molecular Biology, Lysosomal Storage Disorders in Human Health and Disease

Use of tryptic peptide MALDI mass spectrometry imaging to identify the spatial proteomic landscape of colorectal cancer liver metastases

Authors: Celine Man Ying Li, Matthew T. Briggs, Yea‐Rin Lee, Teresa Tin, Clifford Young, John Pierides, Gurjeet Kaur, Paul A. Drew, Guy J. Maddern, Peter Hoffmann, Manuela Klingler‐Hoffmann, Kevin Fenix

Source: Clin Exp Med

Subject Terms: Male, Proteomics, Proteome, Cancer research, Biochemistry, Gene, Role of Fibroblast Activation in Cancer Progression, Tandem Mass Spectrometry, Biochemistry, Genetics and Molecular Biology, Health Sciences, Tumor Microenvironment, Humans, Molecular Biology, Internal medicine, Cancer, Chromatography, Mass spectrometry, Research, Liver Neoplasms, Life Sciences, Biomarker, Colorectal cancer, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Chemistry, Oncology, RNA Methylation and Modification in Gene Expression, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Peptide, Medicine, Female, Peptides, Colorectal Neoplasms, Chromatography, Liquid

Access URL: https://pubmed.ncbi.nlm.nih.gov/38492056

Multi-faceted reactivity of N-fluorobenzenesulfonimide (NFSI) under mechanochemical conditions: fluorination, fluorodemethylation, sulfonylation, and amidation reactions

Authors: José G. Hernández, Karen J. Ardila‐Fierro, Dajana Barišić, Hervé Geneste

Source: Beilstein J Org Chem
Beilstein Journal of Organic Chemistry, Vol 18, Iss 1, Pp 182-189 (2022)
Beilstein journal of organic chemistry

Subject Terms: Computational chemistry, Alternative medicine, amidation, Science, Electrophilic fluorination, Organic chemistry, Combinatorial chemistry, 01 natural sciences, Full Research Paper, Catalysis, nfsi, QD241-441, Chemical engineering, Engineering, raman monitoring, Biochemistry, Genetics and Molecular Biology, Pathology, Reagent, Ball mill, Reactivity (psychology), Physical and Theoretical Chemistry, Molecular Biology, FOS: Chemical engineering, sulfonylation, Mechanochemistry, NFSI, Noncovalent Interactions in Molecular Crystals and Supramolecular Chemistry, in situ monitoring, Life Sciences, Fluorine, ball mill, fluorination, Nucleotide Metabolism and Enzyme Regulation, Peptide Synthesis and Drug Discovery, 0104 chemical sciences, Raman monitoring, mechanochemistry, Chemistry, Electrophile, Physical Sciences, Medicine

File Description: application/pdf

Access URL: https://www.beilstein-journals.org/bjoc/content/pdf/1860-5397-18-20.pdf
https://pubmed.ncbi.nlm.nih.gov/35233257
https://www.bib.irb.hr/1177931
https://doi.org/10.3762/bjoc.18.20
https://doaj.org/article/49a2626676e649ffbd7af30f97c34cd0
https://www.beilstein-journals.org/bjoc/articles/18/20
https://doi.org/10.3762/bjoc.18.20
http://fulir.irb.hr/7017/

Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Authors: Scala, M., Wortmann, S.B., Kaya, N., Stellingwerff, M.D., Pistorio, A., Glamuzina, E., van Karnebeek, C.D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T.B., Prokisch, H., Aldhalaan, H., Karimiani, E.G., Yildiz, Y., Ceylan, A.C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M.B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H.S., Maqbool, S., Farid, A., Al-Muhaizea, M.A., Alshwameen, M.O., Aldowsari, L., Alsagob, M., Alyousef, A., Almass, R., AlHargan, A., Alwadei, A.H., AlRasheed, M.M., Colak, D., Alqudairy, H., Khan, S., Lines, M.A., Cazorla, M., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M.P., Taylor, J.C., Alsaif, H.S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q.S., Schmitt-Mechelke, T., Ziegler, A., Issa, M.Y., Elbendary, H.M., Striano, P., Alkuraya, F.S., Zaki, M.S., Gleeson, J.G., Barakat, T.S., Bierau, J., van der Knaap, M.S., Maroofian, R., Houlden, H.

Source: Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, 'Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency', Human Mutation, vol. 43, no. 3, pp. 403-419. https://doi.org/10.1002/humu.24326
Human Mutation, 43, 3, pp. 403-419
Hum. Mutat. 43, 403-419 (2022)

Subject Terms: Exome sequencing, FOS: Computer and information sciences, 0301 basic medicine, Physiology, heart disease, white matter abnormalities, Encephalopathy, Pediatrics, Gene, Pyrophosphatases, Internal medicine, Research Articles, 0303 health sciences, ATP Synthase Function and Regulation, Life Sciences, ASSOCIATION, Prognosis, 3. Good health, Phenotype, Inosine Triphosphatase, Microcephaly, GROWTH, Medicine, ITPase, Epilepsy, Generalized, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, congenital microcephaly, developmental and epileptic encephalopathy 35, ITPA, Humans, Inosine, Inosine Triphosphate, Mutation, Lysosomal Storage Disorders in Human Health and Disease, Genotype, Bioinformatics, Enzyme Regulation, Itpa, Itpase, Congenital Microcephaly, Developmental And Epileptic Encephalopathy 35, Heart Disease, White Matter Abnormalities, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Biochemistry, Genetics and Molecular Biology, Health Sciences, Ribavirin, Genetics, NUCLEOTIDE POOLS, Molecular Biology, Biology, Epilepsy, MUTATIONS, Nucleotide Metabolism and Enzyme Regulation, FOS: Biological sciences, RETARDATION, Neuroscience

File Description: application/pdf

Access URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.24326
https://pubmed.ncbi.nlm.nih.gov/34989426
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21458
https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21458
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/283128
https://doi.org/10.1002/humu.24326
https://pure.eur.nl/en/publications/8f44f678-de01-492d-b764-468bcda6b382
https://doi.org/10.1002/humu.24326
https://research.vu.nl/en/publications/f1895b2e-8f94-4932-a37a-30cbfce24676
https://hdl.handle.net/1871.1/f1895b2e-8f94-4932-a37a-30cbfce24676
https://doi.org/10.1002/humu.24326
https://cris.maastrichtuniversity.nl/en/publications/4a65fa63-9e65-4f68-9186-ac4e7e5c9167
https://doi.org/10.1002/humu.24326
https://research.vumc.nl/en/publications/ab0f523f-283b-4ff5-9638-a2480282ed32
https://pure.amsterdamumc.nl/en/publications/0e5d7491-e119-43f8-b6ec-1f3d858b5dfe
https://doi.org/10.1002/humu.24326
https://repository.ubn.ru.nl/handle/2066/283128
https://repository.ubn.ru.nl//bitstream/handle/2066/283128/283128.pdf
https://avesis.aybu.edu.tr/publication/details/80b5dd8c-2355-4842-bc5c-81ec5bccb092/oai
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64010
https://hdl.handle.net/11567/1095864
https://doi.org/10.1002/humu.24326
https://discovery-pp.ucl.ac.uk/id/eprint/10142352/

Delaying Emergence of Resistance to KRAS Inhibitors with Adaptive Therapy: 'Treatment-to-Contain' Instead of 'Treatment-to-Cure'

Authors: Amir Imran Faisal Hamdi, Johnson Stanslas

Source: Oncologie. 24:185-194

Subject Terms: Pulmonary and Respiratory Medicine, 0301 basic medicine, Advancements in Lung Cancer Research, Immunology, Cancer research, DNA Topoisomerases: Structure, Function, and Inhibition, 03 medical and health sciences, 0302 clinical medicine, Biochemistry, Genetics and Molecular Biology, Health Sciences, KRAS, Genetics, Molecular Biology, Biology, Internal medicine, Cancer, Pharmacology, FOS: Clinical medicine, Life Sciences, Colorectal cancer, Anticancer Drugs, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Clinical trial, Drug resistance, FOS: Biological sciences, Effector, Medicine

In silico virtual screening for the identification of novel inhibitors against dihydrodipicolinate reductase (DapB) of Mycobacterium tuberculosis , a key enzyme of diaminopimelate pathway

Authors: Nupur Angrish, Narendra D. Lalwani, Garima Khare

Source: Microbiol Spectr
Microbiology Spectrum, Vol 11, Iss 6 (2023)

Subject Terms: Virtual screening, Dihydrodipicolinate Reductase, Antitubercular Agents, FOS: Health sciences, DNA Topoisomerases: Structure, Function, and Inhibition, Biochemistry, Microbiology, Gene, Mycobacterium, Drug Delivery Systems, Stereochemistry, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Pathology, Animals, Tuberculosis, Molecular Biology, Biology, Mammals, Bacteria, Drug discovery, In silico, Life Sciences, Mycobacterium tuberculosis, virtual screening, QR1-502, Nucleotide Metabolism and Enzyme Regulation, 3. Good health, Chemistry, Infectious Diseases, tuberculosis, Enzyme, Oxidoreductase, FOS: Biological sciences, Medicine, Oxidoreductases, Research Article, Nitrate reductase

Access URL: https://pubmed.ncbi.nlm.nih.gov/37855602
https://doaj.org/article/4f42dff2db7f4276893a1fd23cddc299

Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant

Authors: Omar Zgheib, Kamonwan Chamchoy, Thierry Nouspikel, Jean‐Louis Blouin, Laurent Cimasoni, Lina Quteineh, Usa Boonyuen

Source: Commun Biol
Communications Biology, Vol 6, Iss 1, Pp 1-7 (2023)

Subject Terms: 576.5, Management of Hyperbilirubinemia in Newborn Infants, QH301-705.5, Glycine, Wild type, Organic chemistry, Glucosephosphate Dehydrogenase, Arginine, Biochemistry, Gene, Article, Genetic Basis of Neutropenia Disorders, Biochemistry, Genetics and Molecular Biology, Health Sciences, Genetics, Humans, Biology (General), Molecular Biology, Glucose-6-Phosphate Dehydrogenase Deficiency, Biology, Mutant, Life Sciences, Nucleotide Metabolism and Enzyme Regulation, Amino acid, 3. Good health, Chemistry, Dimer, Glucosephosphate Dehydrogenase Deficiency, FOS: Biological sciences, Pediatrics, Perinatology and Child Health, Mutation, Medicine, Mutant protein, Dimerization

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38066190
https://doaj.org/article/a85cb1b65351446c84414580b584c7c2
https://archive-ouverte.unige.ch/unige:176145
https://doi.org/10.1038/s42003-023-05599-z

1590. Resistance to Etravirine, Doravine and Rilpivirine in People Living with HIV Experiencing Virologic Failure to a First-line Antiretroviral Regimen Based on a Non-Nucleoside Reverse Transcriptase Inhibitor (NNRTI) in a Latin American Country

Authors: Verónica Mingrone, Eliana Loiza, Norma Porteiro, Jamile Ballivian, Ezequiel Córdova

Source: Open Forum Infect Dis

Subject Terms: 0301 basic medicine, Antiretroviral Therapy, FOS: Health sciences, Etravirine, Efficacy and Safety of Antiretroviral Therapy for HIV, 03 medical and health sciences, Virology, Biochemistry, Genetics and Molecular Biology, Health Sciences, Reverse-transcriptase inhibitor, HIV drug resistance, Viral load, Nevirapine, Molecular Biology, Internal medicine, Abstract, Regimen, Immunology and Microbiology, 0303 health sciences, Rilpivirine, Life Sciences, Human immunodeficiency virus (HIV), Nucleotide Metabolism and Enzyme Regulation, Antiretroviral therapy, 3. Good health, Infectious Diseases, Oncology, Medicine, Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome, Efavirenz