المؤلفون: S. Udhaya Kumar, Saravanamuthu Thiyagarajan, Meenakshi Bhat, Juby Mathew, Sudha Srinivasan, Sujatha Jagadeesh

المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 53-61 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Arylsulfatase B, ARSB, arylsulfatase B, Population, India, LSD, lysosomal storage disorder, GAG, glycosaminoglycan, Lysosomal storage disorder (LSD), Biology, MPS, mucopolysaccharidosis, medicine.disease_cause, HSCT, hematopoietic stem cell transplantation, Endocrinology, VUS, variants of unknown significance, Genetics, medicine, MPS - Mucopolysaccharidosis, education, Arylsulfatase B (ARSB), lcsh:QH301-705.5, Molecular Biology, Gene, GALNS, N-acetyl galactosamine 6-sulfatase, lcsh:R5-920, education.field_of_study, Mutation, Maroteaux–Lamy syndrome, Active site, Mucopolysaccharidosis VI, medicine.disease, Lysosomal enzyme, ERT, enzyme replacement therapy, lcsh:Biology (General), Inborn error of metabolism (IEM), Inborn error of metabolism, PCT, pharmacological chaperone therapy, HGMD, Human Gene Mutation Database, lcsh:Medicine (General), Mutations, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a7118e015b695c28fc964a97d7300e6Test
https://doi.org/10.1016/j.ymgmr.2015.06.002Test

المؤلفون: Neerja Gupta, Phillipe Schröter, Bernd Wollnik, Madhulika Kabra, Lionel Van Maldergem, Eva Morava, Yun Li, Jaime Moritz Brum, Katherine Lachlan, Diana Johnson, Shubha R. Phadke, David Chitayat, Thatjana Gardeitchik, Zeina Mahayri, Leo G.J. Nijtmans, Marco Castori, Stefan Mundlos, Elaine Fletcher, Ingeborg Barišić, Aikaterini Dimopoulou, Katta M. Girisha, Martina Simandlova, Albert David, Christiane Spaich, Hülya Kayserili, Meenakshi Bhat, Francesco Brancati, Beyhan Tüysüz, Björn Fischer, Claire Schlack, Uwe Kornak

المصدر: Molecular Genetics and Metabolism, 110, 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61

مصطلحات موضوعية: Models, Molecular, Pathology, medicine.medical_specialty, Genotype, Protein Conformation, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Biology, Biochemistry, Gerodermia osteodysplastica, Cutis Laxa, Endocrinology, Gene Order, Genetics, medicine, Humans, Missense mutation, AR cutis laxa, Autosomal recessive cutis laxa, PYCR1, proline, mitochondria, segmental progeroid disorders, Molecular Biology, Alleles, Genetic Association Studies, Progeria, Psychomotor retardation, Facies, Exons, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, Mutation, De Barsy syndrome, Pyrroline Carboxylate Reductases, medicine.symptom, Wrinkly skin syndrome, Cutis laxa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4a9290161bb3a43a749084a8fa979eTest
https://doi.org/10.1016/j.ymgme.2013.08.009Test

المؤلفون: Massimo Tatti, Marie T. Vanier, Laura Masuelli, Anna Maria Vaccaro, Rosa Salvioli, Anna Tylki-Szymańska, Meenakshi Bhat, Marialetizia Motta, Susanna Scarpa

مصطلحات موضوعية: Male, Ceramide, Molecular Sequence Data, Intracellular Space, Biology, Ceramides, Saposins, chemistry.chemical_compound, Lysosome, Autophagy, Genetics, medicine, Humans, Amino Acid Sequence, Protein Precursors, Molecular Biology, Genetics (clinical), chemistry.chemical_classification, Prosaposin, Gaucher Disease, Activator (genetics), Lipid metabolism, General Medicine, Fibroblasts, Lipid Metabolism, Glucosylceramidase, Protein Transport, Cholesterol, medicine.anatomical_structure, chemistry, Biochemistry, Mutation, Female, Lysosomes, Glycoprotein, Microtubule-Associated Proteins, Protein Processing, Post-Translational, Cysteine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5086e05316eaec3b849e065820c75b80Test
http://hdl.handle.net/11573/230753Test

المؤلفون: Janice Rhodes, Gill Diamond, Meenakshi Bhat, Lisa K. Ryan

المصدر: Infection and immunity. 66(2)

مصطلحات موضوعية: Lipopolysaccharides, beta-Defensins, Lipopolysaccharide, Immunology, Molecular Sequence Data, Biology, Microbiology, Defensins, chemistry.chemical_compound, Gene expression, Macrophages, Alveolar, medicine, Macrophage, Animals, Amino Acid Sequence, Defensin, Regulation of gene expression, Host Response and Inflammation, integumentary system, Base Sequence, Tumor Necrosis Factor-alpha, fungi, hemic and immune systems, Blood Proteins, respiratory system, bacterial infections and mycoses, Molecular biology, Infectious Diseases, medicine.anatomical_structure, Beta defensin, chemistry, Gene Expression Regulation, Parasitology, Tumor necrosis factor alpha, Cattle, Pulmonary alveolus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::438c8a731a66fbabe335a63e1068ba76Test
https://pubmed.ncbi.nlm.nih.gov/9453661Test