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: Wen Xie, Qingjun Wu, Zheng-Ke Peng, Shaonan Liu, Shaoli Wang, Lixia Tian, Zezhong Yang, Youjun Zhang, Jun Ren

المصدر: Insect Science. 28:1541-1552

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Glucosinolates, Brassica, Whitefly, Biology, 01 natural sciences, Genome, General Biochemistry, Genetics and Molecular Biology, Hemiptera, Middle East, 03 medical and health sciences, chemistry.chemical_compound, Animals, Gene, Ecology, Evolution, Behavior and Systematics, Genetics, Gene knockdown, Sulfatase, biology.organism_classification, 010602 entomology, 030104 developmental biology, chemistry, Insect Science, Glucosinolate, Sulfatase-Modifying Factor 1, Insect Proteins, PEST analysis, Sulfatases, Agronomy and Crop Science

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbcd810eccf3d9814823d851e98299beTest
https://doi.org/10.1111/1744-7917.12898Test

المؤلفون: Nicolina Cristina Sorrentino, Maximiliano Presa, Sergio Attanasio, Vincenzo Cacace, Martina Sofia, Aamir Zuberi, Jennifer Ryan, Somdatta Ray, Igor Petkovic, Karthikeyan Radhakrishnan, Lars Schlotawa, Andrea Ballabio, Cathleen Lutz, Nicola Brunetti‐Pierri

المساهمون: Sorrentino, Nicolina Cristina, Presa, Maximiliano, Attanasio, Sergio, Cacace, Vincenzo, Sofia, Martina, Zuberi, Aamir, Ryan, Jennifer, Ray, Somdatta, Petkovic, Igor, Radhakrishnan, Karthikeyan, Schlotawa, Lar, Ballabio, Andrea, Lutz, Cathleen, Brunetti-Pierri, Nicola

مصطلحات موضوعية: formylglycine generating enzyme, sulfatase modifying factor 1, Genetics, multiple sulfatase deficiency, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359ad552e9c60939652ca0a1098ebeaaTest
https://hdl.handle.net/11588/906865Test

المؤلفون: Ming-Min Zou, Minsheng You, Xiaoli Ma, Wei-Ping Qi, Simon W. Baxter, Xue-Jiao Xu, Weiyi He, Yanchun You, Wei Chen, Ping Wang

المصدر: Insect Science. 25:946-958

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Genetics, Diamondback moth, biology, Sulfatase, Plutella, biology.organism_classification, 01 natural sciences, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 030104 developmental biology, Bombyx mori, Manduca sexta, Insect Science, Botany, Sulfatase-Modifying Factor 1, Drosophila melanogaster, Agronomy and Crop Science, Gene, Ecology, Evolution, Behavior and Systematics, 010606 plant biology & botany

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::215113062e0795def425d9b70585981dTest
https://doi.org/10.1111/1744-7917.12487Test

المؤلفون: Rebecca J. Holley, Michaël Hocquemiller, Brian W. Bigger, R. Michael Linden, Aiyin Liao, Els Henckaerts, Anna L. Gray, Nuria Palomar, Helen Parker, Olivier Danos, Amir Saam Youshani, Jessica T. Taylor, Hélène F.E. Gleitz, Claire O'Leary, Leticia Agúndez

المصدر: Gray, A L, O'Leary, C, Liao, A, Agúndez, L, Youshani, A S, Gleitz, H F, Parker, H, Taylor, J T, Danos, O, Hocquemiller, M, Palomar, N, Linden, R M, Henckaerts, E, Holley, R J & Bigger, B W 2019, ' An Improved Adeno-Associated Virus Vector for Neurological Correction of the Mouse Model of Mucopolysaccharidosis IIIA ', Human Gene Therapy, vol. 30, no. 9, pp. 1052-1066 . https://doi.org/10.1089/hum.2018.189Test

مصطلحات موضوعية: Hydrolases, Genetic enhancement, Mucopolysaccharidosis, Neurons/metabolism, Fluorescent Antibody Technique, Gene Expression, Pharmacology, medicine.disease_cause, Organ Specificity/genetics, chemistry.chemical_compound, Mice, Mucopolysaccharidosis III, 0302 clinical medicine, Corpus Striatum/metabolism, Transduction, Genetic, Gene expression, Gene Order, Lysosomal storage disease, Transgenes, Mucopolysaccharidosis III/genetics, Adeno-associated virus, Dependovirus/genetics, Neurons, 0303 health sciences, Cytokines/metabolism, Heparan sulfate, Dependovirus, Genetic Therapy/adverse effects, Treatment Outcome, Organ Specificity, 030220 oncology & carcinogenesis, Sulfatase-Modifying Factor 1, Genetic Vectors/administration & dosage, Molecular Medicine, Cytokines, Genetic Vectors, Viral vector, 03 medical and health sciences, Genetics, medicine, Animals, Molecular Biology, 030304 developmental biology, Hydrolases/genetics, business.industry, Genetic Therapy, medicine.disease, Corpus Striatum, Enzyme Activation, Disease Models, Animal, chemistry, business, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::228c8b1a0791d243a26d6d7bed43929aTest
https://pubmed.ncbi.nlm.nih.gov/31020862Test

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: Andrea Ballabio, Graciana Diez-Roux

المساهمون: DIEZ ROUX, G., Ballabio, Andrea

المصدر: Annual Review of Genomics and Human Genetics. 6:355-379

مصطلحات موضوعية: Molecular Sequence Data, Biology, medicine.disease_cause, Evolution, Molecular, Multiple sulfatase deficiency, Genetics, medicine, Animals, Humans, Gene family, Oxidoreductases Acting on Sulfur Group Donors, Amino Acid Sequence, Molecular Biology, Peptide sequence, Phylogeny, Genetics (clinical), chemistry.chemical_classification, Mutation, Molecular Structure, Sequence Homology, Amino Acid, Sulfatase, medicine.disease, Disease Models, Animal, Enzyme, Biochemistry, chemistry, Sulfatase-Modifying Factor 1, Formylglycine-generating enzyme, Sulfatases, Lysosomes, Protein Processing, Post-Translational, Metabolism, Inborn Errors

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a890a3afb56663c51c6e7e216098703Test
https://doi.org/10.1146/annurev.genom.6.080604.162334Test

المؤلفون: Alessia Lombardi, Andrea Ballabio, Roberto Sitia, Carmine Spampanato, Fabio Annunziata, Ester Zito, Marianna Cozzolino, Maria Pia Cosma, Maria Chiara Monti, Piero Pucci, Alessandro Fraldi

المساهمون: Fraldi, A, Zito, E, Annunziata, F, Lombardi, A, Cozzolino, M, Monti, M, Spampanato, C, Ballabio, A, Pucci, P, Sitia, Roberto, Cosma, Mp, Fraldi, Alessandro, Zito, E., Annunziata, F., Lombardi, A., Cozzolino, M., Monti, Maria, Spampanato, C., Ballabio, Andrea, Pucci, Pietro, Sitia, R., Cosma, M. P.

مصطلحات موضوعية: Proteasome Endopeptidase Complex, Protein Disulfide-Isomerases, Biology, symbols.namesake, Polysaccharides, Multiple sulfatase deficiency, Genetics, medicine, Humans, Oxidoreductases Acting on Sulfur Group Donors, Protein disulfide-isomerase, Molecular Biology, Genetics (clinical), Secretory pathway, Multiple Sulfatase Deficiency Disease, Sulfatase, Endoplasmic reticulum, Membrane Proteins, General Medicine, Golgi apparatus, medicine.disease, Protein Transport, Mannose-Binding Lectins, Biochemistry, Sulfatase-Modifying Factor 1, symbols, Sulfatases, HeLa Cells, Molecular Chaperones

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b99f2c6ffad9c8a26c91912a48d2b668Test

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: Alessia Lombardi, Ida Annunziata, Valentina Bouche, Andrea Ballabio, Carmine Settembre

المصدر: Human mutation. 28(9)

مصطلحات موضوعية: Multiple Sulfatase Deficiency Disease, Mutant, Biology, Transfection, Gene Expression Regulation, Enzymologic, Mice, Multiple sulfatase deficiency, Genetics, medicine, SUMF1 Gene, Animals, Humans, Oxidoreductases Acting on Sulfur Group Donors, Tissue Distribution, Gene, Genetics (clinical), Cells, Cultured, Regulation of gene expression, Mice, Knockout, Sulfatase, medicine.disease, Embryo, Mammalian, Molecular biology, Biochemistry, Codon, Nonsense, Sulfatase-Modifying Factor 1, Formylglycine-generating enzyme, Sulfatases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a1cc3f7419f1e524d77e8585698fc6Test
https://pubmed.ncbi.nlm.nih.gov/17657823Test