المؤلفون: Jyoti, Prerna, Shakappa, Devindra

المصدر: Journal of Pharmacy and Nutrition Sciences ; Vol. 14 (2024); 16-25 ; 1927-5951

مصطلحات موضوعية: Inborn errors of metabolism, glycosphingolipid (GSL), lipids, inherited metabolic disorder, lysosomal storage disorder (LSD), rare disease, dietary glycosphingolipid

وصف الملف: application/pdf

Relation: https://setpublisher.com/index.php/jpans/article/view/2522/2278; https://setpublisher.com/index.php/jpans/article/view/2522

الاتاحة: https://setpublisher.com/index.php/jpans/article/view/2522
https://doi.org/10.29169/1927-5951.2024.14.03

المؤلفون: Tamara Marín, Andrés E. Dulcey, Fabián Campos, Catalina de la Fuente, Mariana Acuña, Juan Castro, Claudio Pinto, María José Yañez, Cristian Cortez, David W. McGrath, Pablo J. Sáez, Kirill Gorshkov, Wei Zheng, Noel Southall, Maria Carmo-Fonseca, Juan Marugán, Alejandra R. Alvarez, Silvana Zanlungo

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: Niemann-Pick disease, neurodegeneration, c-Abl kinase, autophay-lysosomal pathway, lysosomal storage disorder (LSD), Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.844297/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/eb6e916b22f74d1d9c8a35fe82a6b24e

المؤلفون: Jones, S. A., Cheillan, D., Chakrapani, A., Church, H. J., Heales, S., Wu, T. H. Y., Morton, G., Roberts, P., Sluys, E. F., Burlina, A.

المساهمون: Manchester University NHS Foundation Trust (MFT), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de Biochimie et Biologie Moléculaire Grand Est HCL, Lyon (Centre de Biologie et de Pathologie), Hospices Civils de Lyon (HCL), Great Ormond Street Hospital for Children NHS Foundation Trust London, UK (GOSHC), University College London Hospitals NHS Foundation Trust London, UK (UCLH), ArchAngel MLD Trust London, UK (2A), Helvet Health Nyon, Switzerland (2H), Azienda Ospedale Università di Padova = Hospital-University of Padua (AOUP)

المصدر: ISSN: 2409-515X ; International Journal of Neonatal Screening ; https://www.hal.inserm.fr/inserm-03754192 ; International Journal of Neonatal Screening, 2022, 8 (1), pp.20. ⟨10.3390/ijns8010020⟩.

مصطلحات موضوعية: algorithm, congenital disorder, genetics, inborn errors of metabolism, inherited metabolic disorder (IMD), lysosomal storage disorder (LSD), methodology, newborn screening (NBS), public health, rare diseases, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35323199; inserm-03754192; https://www.hal.inserm.fr/inserm-03754192; https://www.hal.inserm.fr/inserm-03754192/document; https://www.hal.inserm.fr/inserm-03754192/file/IJNS-08-00020-v3.pdf; PUBMED: 35323199; PUBMEDCENTRAL: PMC8951961

الاتاحة: https://www.hal.inserm.fr/inserm-03754192
https://www.hal.inserm.fr/inserm-03754192/document
https://www.hal.inserm.fr/inserm-03754192/file/IJNS-08-00020-v3.pdf
https://doi.org/10.3390/ijns8010020

المؤلفون: Jones, SA, Cheillan, D, Chakrapani, A, Church, HJ, Heales, S, Wu, THY, Morton, G, Roberts, P, Sluys, EF, Burlina, A

المصدر: International Journal of Neonatal Screening , 8 (1) , Article 20. (2022)

مصطلحات موضوعية: algorithm, congenital disorder, genetics, inborn errors of metabolism, inherited metabolic disorder (IMD), lysosomal storage disorder (LSD), methodology, newborn screening (NBS), public health, rare diseases

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10146955/1/Heales_Application%20of%20a%20Novel%20Algorithm%20for%20Expanding%20Newborn%20Screening%20for%20Inherited%20Metabolic%20Disorders%20across%20Europe_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10146955/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10146955/1/Heales_Application%20of%20a%20Novel%20Algorithm%20for%20Expanding%20Newborn%20Screening%20for%20Inherited%20Metabolic%20Disorders%20across%20Europe_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10146955/

المؤلفون: Jinzhong Zhang, Jing He, Jennifer L. Johnson, Farhana Rahman, Evripidis Gavathiotis, Ana Maria Cuervo, Sergio D. Catz

المصدر: Frontiers in Endocrinology, Vol 10 (2019)

مصطلحات موضوعية: lysosomal storage disorder (LSD), fanconi syndrome, megalin, chaperone-mediated autophagy (CMA), cystinosis, vesicular trafficking, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2019.00021/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/af13b8e74db74201bd0fa726dc74e21a

المؤلفون: Akyol, Mehmet Umut, Alden, Tord D., Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I., Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I., Jester, Andrea, Jones, Simon A., Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J., Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J., Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian J., Scarpa, Maurizio

مصطلحات موضوعية: Morquio a syndrome, Management guidelines, Elosulfase alfa, Enzyme replacement therapy, Haematopoietic stem cell transplantation, Surgery, Anaesthetics, Mucopolysaccharidosis (MPS), Lysosomal storage disorder (LSD), N-acetylgalactosamine-6-sulfatase (GALNS), Haematopoietic stem cell transplantation (HSCT), Enzyme replacement therapy (ERT), Morquio A syndrome (MPS IVA)

وصف الملف: application/pdf

Relation: Akyol, M.U., Alden, T.D., Amartino, H. et al. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet Journal of Rare Diseases 14, 137 (2019). https://doi.org/10.1186/s13023-019-1074-9.; 1750-1172 (online); http://hdl.handle.net/2263/75777

الاتاحة: http://hdl.handle.net/2263/75777
https://doi.org/10.1186/s13023-019-1074-9

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

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

مصطلحات موضوعية: Mucopolysaccharidosis VI (MPS VI), Maroteaux–Lamy syndrome, Arylsulfatase B (ARSB), Inborn error of metabolism (IEM), Lysosomal storage disorder (LSD), Lysosomal enzyme, Mutations, India, Active site, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442691530015X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/608ba39bbeb644a3921624d1b9905038

المؤلفون: Nikita Jain, S. Udhaya Kumar, Prangya Paramita Jena, Siva Ramamoorthy, Hatem Zayed, C. George Priya Doss, D Thirumal Kumar

المصدر: Journal of Biomolecular Structure and Dynamics. 39:1795-1810

مصطلحات موضوعية: Mutant, Mutation, Missense, Lysosomal storage disorder (LSD), Molecular dynamics, Molecular Dynamics Simulation, Biology, medicine.disease_cause, Structural Biology, Galactosylceramidase, medicine, Humans, Missense mutation, Molecular Biology, Genetics, Mutation, Galactocerebrosidase, Leukodystrophy, GALC, General Medicine, medicine.disease, Leukodystrophy, Globoid Cell, Molecular Docking Simulation, Krabbe disease, Molecular docking, DSSP (hydrogen bond estimation algorithm)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de45ae04c6ec54d5d8b7f7e9728db1d3
https://doi.org/10.1080/07391102.2020.1742790

المؤلفون: Zachary J Struzik

مصطلحات موضوعية: Biochemistry and cell biology not elsewhere classified, Medical biochemistry - lipids, Organic chemistry not elsewhere classified, Niemann-Pick Type C Disease, Bis(monoacylglycero)phosphate, Lipid Probes, Lipid Synthesis, Phosphatidylglycerol, Lysobisphosphatidic Acid, Lysosomal storage disorder (LSD), Organic Chemistry, Medical Biochemistry: Lipids, Biochemistry

Relation: https://figshare.com/articles/thesis/SYNTHESIS_AND_EVALUATION_OF_LABELED_PHOSPHATIDYLGLYCEROL_PROBES_TO_ELUCIDATE_MECHANISMS_BEHIND_CHOLESTEROL_TRAFFICKING_IN_NIEMANN-PICK_TYPE_C_DISEASE/19610232

الاتاحة: https://doi.org/10.25394/pgs.19610232.v1

المؤلفون: Tamara Marín, Andrés E. Dulcey, Fabián Campos, Catalina de la Fuente, Mariana Acuña, Juan Castro, Claudio Pinto, María José Yañez, Cristian Cortez, David W. McGrath, Pablo J. Sáez, Kirill Gorshkov, Wei Zheng, Noel Southall, Maria Carmo-Fonseca, Juan Marugán, Alejandra R. Alvarez, Silvana Zanlungo

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Niemann-Pick disease, neurodegeneration, c-Abl kinase, autophay-lysosomal pathway, lysosomal storage disorder (LSD)

Relation: https://figshare.com/articles/figure/Image1_c-Abl_Activation_Linked_to_Autophagy-Lysosomal_Dysfunction_Contributes_to_Neurological_Impairment_in_Niemann-Pick_Type_A_Disease_TIF/19381424

الاتاحة: https://doi.org/10.3389/fcell.2022.844297.s002
https://figshare.com/articles/figure/Image1_c-Abl_Activation_Linked_to_Autophagy-Lysosomal_Dysfunction_Contributes_to_Neurological_Impairment_in_Niemann-Pick_Type_A_Disease_TIF/19381424

المؤلفون: Tamara Marín, Andrés E. Dulcey, Fabián Campos, Catalina de la Fuente, Mariana Acuña, Juan Castro, Claudio Pinto, María José Yañez, Cristian Cortez, David W. McGrath, Pablo J. Sáez, Kirill Gorshkov, Wei Zheng, Noel Southall, Maria Carmo-Fonseca, Juan Marugán, Alejandra R. Alvarez, Silvana Zanlungo

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), Niemann-Pick disease, neurodegeneration, c-Abl kinase, autophay-lysosomal pathway, lysosomal storage disorder (LSD)

Relation: https://figshare.com/articles/dataset/DataSheet1_c-Abl_Activation_Linked_to_Autophagy-Lysosomal_Dysfunction_Contributes_to_Neurological_Impairment_in_Niemann-Pick_Type_A_Disease_pdf/19381418

الاتاحة: https://doi.org/10.3389/fcell.2022.844297.s001
https://figshare.com/articles/dataset/DataSheet1_c-Abl_Activation_Linked_to_Autophagy-Lysosomal_Dysfunction_Contributes_to_Neurological_Impairment_in_Niemann-Pick_Type_A_Disease_pdf/19381418

المؤلفون: Jinzhong Zhang, Jing He, Jennifer L. Johnson, Farhana Rahman, Evripidis Gavathiotis, Ana Maria Cuervo, Sergio D. Catz

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, lysosomal storage disorder (LSD), fanconi syndrome, megalin, chaperone-mediated autophagy (CMA), cystinosis, vesicular trafficking, Rab 11 GTPase, LAMP2A

Relation: https://figshare.com/articles/media/Video_1_Chaperone-Mediated_Autophagy_Upregulation_Rescues_Megalin_Expression_and_Localization_in_Cystinotic_Proximal_Tubule_Cells_AVI/7660397

الاتاحة: https://doi.org/10.3389/fendo.2019.00021.s001
https://figshare.com/articles/media/Video_1_Chaperone-Mediated_Autophagy_Upregulation_Rescues_Megalin_Expression_and_Localization_in_Cystinotic_Proximal_Tubule_Cells_AVI/7660397

المؤلفون: David C. Rubinsztein, Ashley R. Winslow

المصدر: Biochimica et Biophysica Acta

مصطلحات موضوعية: Huntingtin, Endosomal sorting complexes required for transport (ESCRT), Dynein, Cellular homeostasis, Review, Disease, Biology, Development, Lysosomal storage disorder (LSD), 03 medical and health sciences, 0302 clinical medicine, medicine, Autophagy, Animals, Humans, Neurodegeneration, Molecular Biology, 030304 developmental biology, 0303 health sciences, Mechanism (biology), Protein turnover, Neurodegenerative Diseases, medicine.disease, 3. Good health, Cell biology, Nerve Degeneration, Molecular Medicine, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b98a73180c3ef8e981758db86b7da754

المؤلفون: Zachary J Struzik (12426840)

مصطلحات موضوعية: Biochemistry and cell biology not elsewhere classified, Medical biochemistry - lipids, Organic chemistry not elsewhere classified, Niemann-Pick Type C Disease, Bis(monoacylglycero)phosphate, Lipid Probes, Lipid Synthesis, Phosphatidylglycerol, Lysobisphosphatidic Acid, Lysosomal storage disorder (LSD), Organic Chemistry, Medical Biochemistry: Lipids, Biochemistry

Relation: https://figshare.com/articles/thesis/SYNTHESIS_AND_EVALUATION_OF_LABELED_PHOSPHATIDYLGLYCEROL_PROBES_TO_ELUCIDATE_MECHANISMS_BEHIND_CHOLESTEROL_TRAFFICKING_IN_NIEMANN-PICK_TYPE_C_DISEASE/19610232