المؤلفون: Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Galactose epimerase deficiency, Galactosemia type III, Galactosemias Network, Galactose-restricted diet, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/7b30d0500cf94f298bf161b0d11d2fb6

المؤلفون: Can Ficicioglu, Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo, Gerard T. Berry

المصدر: JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)

مصطلحات موضوعية: galactosemia, GALK1 deficiency, in vivo galactose oxidation, stable‐isotope labeled galactose, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/b8646ce29b08414b95415f29487e97a8

المؤلفون: Paul McCusker, Wasim Hussain, Paul McVeigh, Erin McCammick, Nathan G. Clarke, Emily Robb, Fiona M. McKay, Peter M. Brophy, David J. Timson, Angela Mousley, Nikki J. Marks, Aaron G. Maule

المصدر: International Journal for Parasitology: Drugs and Drug Resistance, Vol 14, Iss , Pp 46-55 (2020)

مصطلحات موضوعية: Fasciola, Liver fluke, RNAi, Argonaute, Calmodulin, σGST, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211320720300245; https://doaj.org/toc/2211-3207

URL الوصول: https://doaj.org/article/6adc572dca29437098a0058fa1081fd4

المؤلفون: Joshua Eardley, David J. Timson

المصدر: Fermentation, Vol 6, Iss 4, p 109 (2020)

مصطلحات موضوعية: bioethanol, chaotropicity, fermentation, biofuel yield, compatible solute, cell stress, Fermentation industries. Beverages. Alcohol, TP500-660

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2311-5637/6/4/109; https://doaj.org/toc/2311-5637

URL الوصول: https://doaj.org/article/d6cb4d8dd32842c990b21d01a18656cc

المؤلفون: Ernesto Anoz-Carbonell, David J. Timson, Angel L. Pey, Milagros Medina

المصدر: Antioxidants, Vol 9, Iss 9, p 772 (2020)

مصطلحات موضوعية: antioxidant enzyme, antioxidant response, cancer, oxidoreductase, enzyme kinetic analysis, functional cooperativity, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3921/9/9/772; https://doaj.org/toc/2076-3921

URL الوصول: https://doaj.org/article/0a73d531608248d685995fee34ae3374

المؤلفون: David J. Timson

المصدر: Fermentation, Vol 5, Iss 2, p 39 (2019)

مصطلحات موضوعية: protein folding, enzyme engineering, hydrophobic effect, chaotropicity, enzyme mechanism, water activity, green chemistry, enzyme specificity, biotechnology, protein structure, Fermentation industries. Beverages. Alcohol, TP500-660

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2311-5637/5/2/39; https://doaj.org/toc/2311-5637

URL الوصول: https://doaj.org/article/cda4eae09e8b42539a4bd344719f7545

المؤلفون: Eduardo Salido, David J. Timson, Isabel Betancor-Fernández, Rogelio Palomino-Morales, Ernesto Anoz-Carbonell, Juan Luis Pacheco-García, Milagros Medina, Angel L. Pey

المصدر: Journal of Personalized Medicine; Volume 12; Issue 5; Pages: 747

مصطلحات موضوعية: HIF-1α, NQO1, hypoxia, angiogenesis, cancer, protein: protein interactions, ligand binding, proteasomal degradation, genetic variability

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/jpm12050747

الاتاحة: https://doi.org/10.3390/jpm12050747

المؤلفون: Samantha Banford, Thomas J. McCorvie, Angel L. Pey, David J. Timson

المصدر: Journal of Personalized Medicine; Volume 11; Issue 2; Pages: 106

مصطلحات موضوعية: galactose metabolism, enzyme, protein misfolding, protein degradation, ligand binding, galactose 1-phosphate uridylyltransferase, galactokinase, UDP-galactose 4′-epimerase, galactose mutarotase, drug screening

وصف الملف: application/pdf

Relation: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm11020106

الاتاحة: https://doi.org/10.3390/jpm11020106

المؤلفون: Shamsudeen Umar Dandare, Maria Håkansson, L. Anders Svensson, David J. Timson, Christopher C. R. Allen

المصدر: Dandare, S U, Håkansson, M, Svensson, L A, Timson, D J & Allen, C C R 2022, ' Expression, purification and crystallization of a novel metagenome-derived salicylaldehyde dehydrogenase from Alpine soil ', Acta crystallographica. Section F, Structural biology communications, vol. 78, no. 4, pp. 161-169 . https://doi.org/10.1107/S2053230X22002345

مصطلحات موضوعية: purification, Biophysics, alphaproteobacteria, Ligands, Crystallography, X-Ray, Condensed Matter Physics, Aldehyde Oxidoreductases, Biochemistry, salicylaldehyde dehydrogenase, Soil, Alpine soil, Structural Biology, Escherichia coli, Genetics, Metagenome, Crystallization, crystallography, Escherichia coli - genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93ff41e186d5c8ad1167ba11ff486a7e
https://doi.org/10.1107/s2053230x22002345

المؤلفون: Pavla Vankova, Eduardo Salido, David J. Timson, Petr Man, Angel L. Pey

المصدر: Biomolecules; Volume 9; Issue 11; Pages: 728

مصطلحات موضوعية: protein structural dynamics, NQO1, ligand binding, protein stability, allostery, protein degradation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Structure and Dynamics; https://dx.doi.org/10.3390/biom9110728

الاتاحة: https://doi.org/10.3390/biom9110728

المؤلفون: Galactose Metabolism In Saccharomyces, David J Timson, See Profile, David J. Timson

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: https://www.researchgate.net/profile/David_Timson/publication/228617518_Galactose_metabolism_in_Saccharomyces_cerevisiae/links/00b7d51c5ae6fdf448000000.pdf?origin%3Dpublication_detail.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.944.9679

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.944.9679

المؤلفون: Britt Derks, Didem Demirbas, David J. Timson, M. E. Rubio-Gozalbo, Gerard T. Berry, Can Ficicioglu, G Shashidhar Pai

المساهمون: Kindergeneeskunde, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: MA Medische Staf Kindergeneeskunde (9)

المصدر: JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)
JIMD reports, 59(1), 104-109. Springer

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, stable‐isotope labeled galactose, Carbohydrate metabolism, QH426-470, Biochemistry, Genetics and Molecular Biology (miscellaneous), Gastroenterology, Diseases of the endocrine glands. Clinical endocrinology, Cataracts, Internal medicine, Internal Medicine, medicine, in vivo galactose oxidation, Genetics, galactosemia, Breath test, medicine.diagnostic_test, business.industry, Galactosemia, medicine.disease, RC648-665, Galactokinase, Galactokinase deficiency, Pathophysiology, GALK1 deficiency, Gait abnormality, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7ac9540d12485a58d97a7964b25e3e
https://doaj.org/article/b8646ce29b08414b95415f29487e97a8

المؤلفون: Suprama Datta, Uday S Annapure, David J Timson

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.bioscirep.org/content/ppbioscirep/37/2/BSR20160529.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1041.3578; http://www.bioscirep.org/content/ppbioscirep/37/2/BSR20160529.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1041.3578
http://www.bioscirep.org/content/ppbioscirep/37/2/BSR20160529.full.pdf

المؤلفون: M. Estela Rubio-Gozalbo, Patrick Verloo, Sabine Scholl-Bürgi, U. Meyer, Ina Knerr, David Cassiman, Aurélie Empain, Dorothea Möslinger, Mariela M. De Los Santos De Pelegrin, Britt Derks, Can Ficicioglu, Matthias Gautschi, Natalia Juliá Palacios, Didem Demirbas, David J. Timson, Eileen P. Treacy, Annet M. Bosch, M. Luz Couce, Philippe Labrune, Gerard T. Berry, Isabel Rivera, Anastasia Skouma, Anibh M. Das, Saskia B. Wortmann

المساهمون: Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Genetics in Medicine
Genetics in Medicine, 23(1), 202-210. Nature Publishing Group
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9 <http://dx.doi.org/10.1038/s41436-020-00942-9>
Genetics in medicine, 23(1), 202-210. Lippincott Williams and Wilkins

مصطلحات موضوعية: cataract, galactosemias registry, Galactosemias, Pediatrics, medicine.medical_specialty, galactokinase 1 deficiency, Population, Encephalopathy, GALK1 gene variants, VARIANT, 610 Medicine & health, Article, Galactokinase, ERYTHROCYTES, Medicine and Health Sciences, Medicine, Humans, Genetics(clinical), Registries, education, MUTATION, Genetics (clinical), education.field_of_study, Newborn screening, business.industry, Neonatal hypoglycemia, Homozygote, Infant, Newborn, neonatal complications, Childhood cataract, medicine.disease, Galactokinase deficiency, Bleeding diathesis, GALK1gene variants, Elevated transaminases, business, GALACTOSEMIA

وصف الملف: application/pdf; Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37dd47a5aaff6b00735d1f908cb3b8e
https://doi.org/10.1038/s41436-020-00942-9

المؤلفون: David J. Timson, Joshua Eardley

المصدر: Applied Biochemistry and Biotechnology. 192:1368-1375

مصطلحات موضوعية: 0106 biological sciences, Kosmotropic, 010405 organic chemistry, Bioengineering, General Medicine, Pulp and paper industry, 01 natural sciences, Applied Microbiology and Biotechnology, Biochemistry, Yeast, 0104 chemical sciences, chemistry.chemical_compound, Chaotropic agent, chemistry, Bioenergy, Biofuel, 010608 biotechnology, Yield (chemistry), Carbon dioxide, Fermentation, Molecular Biology, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::466ee087ac9614a29989dcffb3a972d1
https://doi.org/10.1007/s12010-020-03406-7

المؤلفون: Agathe Horri-Naceur, David J. Timson

المصدر: Hemoglobin. 44:89-103

مصطلحات موضوعية: Genetics, Heme binding, Thalassemia, Point mutation, In silico, Biochemistry (medical), Clinical Biochemistry, Single-nucleotide polymorphism, Hematology, Biology, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, SNP, Hemoglobin, Gene, Genetics (clinical), 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3095110e98445dea71c6c9c1ea3bce50
https://doi.org/10.1080/03630269.2020.1739067

المؤلفون: David J. Timson

المصدر: Pharmaceutical Patent Analyst. 9:45-51

مصطلحات موضوعية: Galactosemias, Patents as Topic, Salubrinal, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Cataracts, Aldehyde Reductase, Animals, Humans, Medicine, Transferase, RNA, Messenger, Enzyme Inhibitors, 030304 developmental biology, Genetics, 0303 health sciences, business.industry, Galactosemia, Thiourea, Galactose, Uridylyltransferase activity, General Medicine, medicine.disease, Leloir pathway, chemistry, Cinnamates, Inherited metabolic disease, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d7a46c6ab5ba00cdb74aecf45701210
https://doi.org/10.4155/ppa-2020-0004

المؤلفون: David J. Timson

المصدر: Expert Opinion on Orphan Drugs. 7:443-451

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Health Policy, Galactosemia, nutritional and metabolic diseases, medicine.disease, Bioinformatics, eye diseases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, 030220 oncology & carcinogenesis, Galactose, Dietary antioxidant, Medicine, Idebenone, Pharmacology (medical), Inherited metabolic disease, business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), 030217 neurology & neurosurgery, Repurposing, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6296cfba9fe2fa77c19f2d565a538f39
https://doi.org/10.1080/21678707.2019.1672533

المؤلفون: John E. Hallsworth, David J. Timson, Marcus K. Dymond, Joshua Eardley, Cinzia Dedi

المصدر: Biotechnology Letters. 41:1309-1318

مصطلحات موضوعية: Glycerol, 0106 biological sciences, 0301 basic medicine, Kosmotropic, Entropy, Bioengineering, Saccharomyces cerevisiae, Models, Biological, 01 natural sciences, Applied Microbiology and Biotechnology, 03 medical and health sciences, chemistry.chemical_compound, Betaine, 010608 biotechnology, Urea, Ammonium, Ethanol, General Medicine, Culture Media, Chaotropic agent, 030104 developmental biology, chemistry, Ammonium Sulfate, Biofuels, Fermentation, Biophysics, Osmoprotectant, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11949ea4f0585c6aa1e2cf39afb52d77
https://doi.org/10.1007/s10529-019-02737-8

المؤلفون: Samantha Banford, David J. Timson

المصدر: Biochimie. 183

مصطلحات موضوعية: 0301 basic medicine, Galactosemias, Anomer, Biochemistry, 03 medical and health sciences, medicine, Monosaccharide, Humans, education, Gene, chemistry.chemical_classification, education.field_of_study, 030102 biochemistry & molecular biology, Chemistry, Galactosemia, Galactose, General Medicine, medicine.disease, Galactokinase deficiency, 030104 developmental biology, Enzyme, Pyranose, Mutation, Protein Conformation, beta-Strand, Galactose mutarotase, Carbohydrate Epimerases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa03db551228d07620daedd2478c18ea
https://pubmed.ncbi.nlm.nih.gov/33181226