المؤلفون: Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner

المصدر: EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)

مصطلحات موضوعية: drug screening, formylglycine‐generating enzyme, lysosomal disorder, retinoids, sulfatase‐modifying factor 1, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4Test

المؤلفون: Ida Annunziata, Marco Sardiello, Andrea Ballabio, Guglielmo Roma

المساهمون: Sardiello, M., Annunziata, I., Roma, G., Ballabio, Andrea

المصدر: Human Molecular Genetics. 14:3203-3217

مصطلحات موضوعية: Sequence analysis, Molecular Sequence Data, Sequence alignment, Biology, Homology (biology), Evolution, Molecular, Multiple sulfatase deficiency, Genetics, medicine, Humans, Oxidoreductases Acting on Sulfur Group Donors, Amino Acid Sequence, Molecular Biology, Peptide sequence, Gene, Conserved Sequence, Phylogeny, Genetics (clinical), Binding Sites, Base Sequence, Sulfatase, Computational Biology, Genomics, Sequence Analysis, DNA, General Medicine, medicine.disease, Sulfatase-Modifying Factor 1, Sulfatases, Protein Processing, Post-Translational, Sequence Alignment

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d35daa369f2302df80357ff7c98586Test
https://doi.org/10.1093/hmg/ddi351Test

المؤلفون: Allison C. Crawley, Alessia Lombardi, Leanne Sutherland, Alberto Auricchio, Adeline A. Lau, John J. Hopwood, Kim M. Hemsley, Alessandro Fraldi, Andrea Ballabio

المساهمون: Fraldi, Alessandro, K., Hemsley, A., Crawley, A., Lombardi, A., Lau, L., Sutherland, Auricchio, Alberto, Ballabio, Andrea, Hopwood, J. J.

المصدر: Human molecular genetics. 16(22)

مصطلحات موضوعية: Male, Heterozygote, Spectrometry, Mass, Electrospray Ionization, Hydrolases, Genetic enhancement, Central nervous system, Biology, Lesion, chemistry.chemical_compound, Lateral ventricles, Mice, Mucopolysaccharidosis III, Genetics, medicine, Animals, Humans, Oxidoreductases Acting on Sulfur Group Donors, Molecular Biology, Mucopolysaccharidosis Type IIIA, Genetics (clinical), Cells, Cultured, Sanfilippo syndrome, Mice, Knockout, Behavior, Animal, Homozygote, Brain, General Medicine, Heparan sulfate, Genetic Therapy, Dependovirus, medicine.disease, Disease Models, Animal, medicine.anatomical_structure, chemistry, Animals, Newborn, Sulfatase-Modifying Factor 1, Immunology, Cancer research, medicine.symptom, Sulfatases, Lysosomes

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5d05812ba1dd76133bc205d67a676aTest
https://pubmed.ncbi.nlm.nih.gov/17725987Test

المؤلفون: Maria Pia Cosma, Mary Anna Venneri, Isabella Pallavicini, Alessandra Biffi, Luigi Naldini, Andrea Ballabio, Alessia Capotondo

المصدر: Molecular Therapy. 13:S332-S333

مصطلحات موضوعية: Pharmacology, Genetically modified mouse, Arylsulfatase A, Sulfatase, Genetic enhancement, Wild type, Biology, medicine.disease, Molecular biology, Metachromatic leukodystrophy, Drug Discovery, Sulfatase-Modifying Factor 1, Genetics, medicine, Molecular Medicine, Syngenic, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5d5c981dd0b3457fa5453dc6faa42aaTest
https://doi.org/10.1016/j.ymthe.2006.08.950Test