المؤلفون: Yasamineh, Saman, Mehrabani, Fatemeh Jabbari, Derafsh, Ehsan, Danihiel Cosimi, Renizo, Forood, Amir Mohammad Karimi, Soltani, Siamak, Hadi, Meead, Gholizadeh, Omid^{Aff1, IDs12035023037987_cor8}

المصدر: Molecular Neurobiology. 61(6):3503-3527

المؤلفون: Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki

المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101124- (2024)

مصطلحات موضوعية: Niemann-pick type C, NPC1 gene variants, Clinical presentation, Lysosomal storage disorder, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000776; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/d77ce205b35a4fb19f0cb8bf467c1076

المؤلفون: Camilo Larrazabal, Carlos Hermosilla, Anja Taubert, Liliana M. R. Silva

المصدر: Frontiers in Veterinary Science, Vol 11 (2024)

مصطلحات موضوعية: Besnoitia besnoiti, Niemann–Pick type C protein, NPC1, U18666A, cholesterol, Veterinary medicine, SF600-1100

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fvets.2024.1454855/full; https://doaj.org/toc/2297-1769

URL الوصول: https://doaj.org/article/0e0e534743d247e097582a915bef7b99

المؤلفون: Dang, An N, Chang, Irene J, Jiang, Xutian, Wolfe, Lynne A, Ng, Bobby G, Lam, Christina, Schnur, Rhonda E, Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D, Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y, Wolfenson, Zoe, Perreault, John, Ory, Daniel S, Freeze, Hudson H, Merritt, J Lawrence, Porter, Forbes D

المصدر: Journal of Inherited Metabolic Disease. 46(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Clinical Research, Pediatric, Digestive Diseases, Liver Disease, Infant, Child, Humans, Oxysterols, Congenital Disorders of Glycosylation, Niemann-Pick Disease, Type C, Glycosylation, Bile Acids and Salts, Hydrolases, Vacuolar Proton-Translocating ATPases, ATP6AP1, bile acids, congenital disorders of glycosylation, Niemann-pick type C, N-palmitoyl-O-phosphocholineserine, oxysterols, Clinical Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/39n7s551

المؤلفون: Morin, A.^{Aff1, Aff2, IDs1302302302851x_cor1}, Carle, G., Ponchel, A., Fernández-Eulate, G.^{Aff5, Aff6}, Nadjar, Y.

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Dickson, Eamonn J.^Aff2

المساهمون: Dantsker, Avia Rosenhouse-, editor^Aff1

المصدر: Cholesterol and PI(4,5)P2 in Vital Biological Functions : From Coexistence to Crosstalk. 1422:193-215

المؤلفون: A. Morin, G. Carle, A. Ponchel, G. Fernández-Eulate, Y. Nadjar

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Psychosis, Neuropsychiatry, Niemann-Pick type C, Lysosomal storage disorders, Behavioral disorders, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/0c75d7ce2eda454989ef792d6ca60bef

المؤلفون: Nazgol Motamed-Gorji, Youssef Khalil, Cristina Gonzalez-Robles, Shamsher Khan, Philippa Mills, Hector Garcia-Moreno, Heather Ging, Ambreen Tariq, Peter T. Clayton, Paola Giunti

المصدر: Antioxidants, Vol 13, Iss 5, p 561 (2024)

مصطلحات موضوعية: biochemical biomarker, bile acid, Niemann–Pick type C, oxidative stress, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3921/13/5/561; https://doaj.org/toc/2076-3921

URL الوصول: https://doaj.org/article/0efdb0f636d045a4a21de458aecaca0b

المؤلفون: Kutchukian, Candice, Vivas, Oscar, Casas, Maria, Jones, Julia G, Tiscione, Scott A, Simó, Sergi, Ory, Daniel S, Dixon, Rose E, Dickson, Eamonn J

المصدر: The EMBO Journal. 40(13)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Neurosciences, Neurodegenerative, Generic health relevance, Animals, Biological Transport, CHO Cells, Cell Line, Cell Membrane, Cholesterol, Cricetulus, Endoplasmic Reticulum, Golgi Apparatus, HEK293 Cells, Humans, Intracellular Membranes, Intracellular Signaling Peptides and Proteins, Lysosomes, Male, Mechanistic Target of Rapamycin Complex 1, Membrane Glycoproteins, Mice, Niemann-Pick C1 Protein, Phosphatidylinositol Phosphates, Signal Transduction, membrane contact sites, mTORC, neurodegeneration, Niemann‐, Pick Type C, phosphoinositides, Niemann-Pick Type C, Information and Computing Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8d0431z3

المؤلفون: Hammerschmidt, Tatiane G.^{Aff1, IDs00210023024237_cor1}, Guerreiro, Gilian B., Donida, Bruna, Raabe, Marco, Kessler, Rejane G., Ferro, Matheus B., Moura, Dinara J., Giugliani, Roberto, Vargas, Carmen R.^{Aff1, Aff2, IDs00210023024237_cor9}

المصدر: Naunyn-Schmiedeberg's Archives of Pharmacology. :1-7