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1
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 -
2
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 -
3
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 -
4
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
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5
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 -
6
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