المؤلفون: Aleksandra Somogyi, Anton Petcherski, Benedikt Beckert, Mylene Huebecker, David A. Priestman, Antje Banning, Susan L. Cotman, Frances M. Platt, Mika O. Ruonala, Ritva Tikkanen

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 2, p 625 (2018)

مصطلحات موضوعية: Batten disease, neuronal ceroid lipofuscinosis, CLN3, lysosomal storage disorders, glycosphingolipids, gangliosides, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/1422-0067/19/2/625Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/d3a88f28c10241b48fac30c63790a4f1Test

المؤلفون: Elisabeth S. Butz, Mika O. Ruonala, Uma Chandrachud, Anton Petcherski, Stephen J. Haggarty, Surya A. Reis, Wen-Ning Zhao, Madeleine C Klein, Susan L. Cotman

المصدر: Cells
Volume 8
Issue 12

مصطلحات موضوعية: Autophagosome, autophagy, Batten disease, Cell, Fluspirilene, Mitochondrion, Article, Cell Line, Mice, Nicardipine, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Neuronal Ceroid-Lipofuscinoses, Drug Discovery, medicine, Animals, ddc:610, 030304 developmental biology, Calcium signaling, 0303 health sciences, Membrane Glycoproteins, Chemistry, Neurodegeneration, Autophagy, CLN3, Autophagosomes, General Medicine, medicine.disease, 3. Good health, Cell biology, medicine.anatomical_structure, Verapamil, Mevalonate pathway, neuronal ceroid lipofuscinosis, 030217 neurology & neurosurgery, Molecular Chaperones

وصف الملف: application/octet-stream; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6748895c2beba6f340e22eb02091dd8fTest
http://publikationen.ub.uni-frankfurt.de/files/51693/container.zipTest

المؤلفون: Sara E. Mole, Uma Chandrachud, Elisabeth S. Butz, Susan L. Cotman

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1866:165571

مصطلحات موضوعية: 0301 basic medicine, Batten disease, Membrane Proteins, Genomics, Disease, Gene mutation, Biology, medicine.disease, Phenotype, Lipofuscin, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Mutation, Lysosomal storage disease, medicine, Animals, Humans, Molecular Medicine, Neuronal ceroid lipofuscinosis, Molecular Biology, Neuroscience, 030217 neurology & neurosurgery, Oligonucleotide Array Sequence Analysis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::016e64ad262451cc97c8d4888067baa2Test
https://doi.org/10.1016/j.bbadis.2019.165571Test

المؤلفون: Anton Petcherski, Aleksandra Somogyi, Ritva Tikkanen, Frances M. Platt, David A. Priestman, Mylene Huebecker, Benedikt Beckert, Susan L. Cotman, Antje Banning, Mika O. Ruonala

المصدر: International Journal of Molecular Sciences; Volume 19; Issue 2; Pages: 625
International Journal of Molecular Sciences, Vol 19, Iss 2, p 625 (2018)
International Journal of Molecular Sciences

مصطلحات موضوعية: 0301 basic medicine, Batten disease, lcsh:Chemistry, Exon, Mice, 0302 clinical medicine, Cerebellum, Gangliosides, lcsh:QH301-705.5, Spectroscopy, Membrane Glycoproteins, glycosphingolipids, Chemistry, CLN3, General Medicine, gangliosides, Computer Science Applications, Neuronal ceroid lipofuscinosis, lipids (amino acids, peptides, and proteins), neuronal ceroid lipofuscinosis, lysosomal storage disorders, Cholera Toxin, endocrine system, Lysosomal storage disorders, Catalysis, Article, Glycosphingolipids, Inorganic Chemistry, 03 medical and health sciences, Neuronal Ceroid-Lipofuscinoses, Precursor cell, medicine, Animals, G(M3) Ganglioside, ddc:610, Physical and Theoretical Chemistry, Molecular Biology, Gene, Ganglioside, Organic Chemistry, Wild type, medicine.disease, Molecular biology, carbohydrates (lipids), Disease Models, Animal, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, Lysosomes, 030217 neurology & neurosurgery, Molecular Chaperones

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999b4a63ee62f082c76105c6bee573d6Test

المؤلفون: Romina Kohan, Susan L. Cotman, Sara E. Mole

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1852(10):2336-2338

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Batten disease, business.industry, Physiology, nutritional and metabolic diseases, medicine.disease, Article, Review article, CLN3, Neuronal Ceroid Lipofuscinosis (NCL), International congress, medicine, Molecular Medicine, Neuronal ceroid lipofuscinosis, business, Psychiatry, Molecular Biology, Neuronal Ceroid-Lipofuscinoses

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea44a926dcf02e27ec4c639a2ab5ae3fTest

المؤلفون: James L. Hickey, Irene Volitakis, Janine L. James, Peter J. Crouch, Anthony R. White, Katja M. Kanninen, Clare Duncan, M. D. de Jonge, Paul S. Donnelly, Susan L. Cotman, Alexandra Grubman, Jeffrey R. Liddell, Simon James

المصدر: Chem. Sci.. 5:2503-2516

مصطلحات موضوعية: Genetics, 0303 health sciences, Batten disease, Neurodegeneration, chemistry.chemical_element, General Chemistry, Calcium, Biology, medicine.disease, Biometal, Article, Cell biology, 03 medical and health sciences, 0302 clinical medicine, chemistry, Single-cell analysis, Second messenger system, medicine, Neuronal ceroid lipofuscinosis, 030217 neurology & neurosurgery, Homeostasis, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74b3e447f7fa28e606ffd867cc6b9c60Test
https://doi.org/10.1039/c4sc00316kTest

المؤلفون: Robert J. Huber, Susan L. Cotman, Michael A. Myre

مصطلحات موضوعية: 0301 basic medicine, Batten disease, Recombinant Fusion Proteins, Green Fluorescent Proteins, Protozoan Proteins, Biology, Dictyostelium discoideum, 03 medical and health sciences, Cellular and Molecular Neuroscience, Neuronal Ceroid-Lipofuscinoses, medicine, Cell Adhesion, Cyclic AMP, Animals, Dictyostelium, Cell adhesion, Cell Aggregation, Genetics, Chemotaxis, Gene Expression Regulation, Developmental, Cell Biology, medicine.disease, biology.organism_classification, Cell aggregation, Cell biology, 030104 developmental biology, CLN3, Neuronal ceroid lipofuscinosis, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99fdee31768acfb735eaeacb995866aaTest
https://europepmc.org/articles/PMC5569969Test/

المؤلفون: Sara E. Mole, Susan L. Cotman

المصدر: Biochimica et biophysica acta. 1852(10 Pt)

مصطلحات موضوعية: Batten disease, KCTD7, Biology, engineering.material, Article, 03 medical and health sciences, 0302 clinical medicine, Batten, medicine, Kufs disease, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, NCL, medicine.disease, Phenotype, 3. Good health, Neuronal ceroid lipofuscinosis, CLN3, CLN8, engineering, Molecular Medicine, CLN, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d55dd7d2c9ad552813d1ffd9e66622Test
https://pubmed.ncbi.nlm.nih.gov/26026925Test

المؤلفون: Philipp Albrecht, Maria Telpoukhovskaia, S. Sakura Minami, Marcel V. Alavi, Shannon N. Leslie, Ali Taubes, Robert Y. Chen, Ian R. A. Mackenzie, Meredith Reichert, Eric J. Huang, John F. Staropoli, Li Gan, William W. Seeley, Michael E. Ward, M.-Marsel Mesulam, Ari J. Green, Andrés Cruz-Herranz, Hélène Boudin, Christian Cordano, Hsin-Yi Huang, Susan L. Cotman, Connor H. Ludwig, Eileen H. Bigio, Matthew Bogyo, Bruce L. Miller, Jeffrey M. Gelfand

المصدر: Ward, ME; Chen, R; Huang, HY; Ludwig, C; Telpoukhovskaia, M; Taubes, A; et al.(2017). Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis. Science Translational Medicine, 9(385). doi: 10.1126/scitranslmed.aah5642. UCSF: Retrieved from: http://www.escholarship.org/uc/item/1zq3v8qnTest

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Heterozygote, Haploinsufficiency, Biology, medicine.disease_cause, Retina, Article, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Progranulins, Neuronal Ceroid-Lipofuscinoses, mental disorders, medicine, Lysosomal storage disease, Dementia, Animals, Humans, Cells, Cultured, Mutation, Heterozygote advantage, Retinal, General Medicine, medicine.disease, Frontal Lobe, Microscopy, Electron, 030104 developmental biology, chemistry, Frontotemporal Dementia, Intercellular Signaling Peptides and Proteins, Neuronal ceroid lipofuscinosis, Lysosomes, 030217 neurology & neurosurgery, Frontotemporal dementia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f04ed06249f2888be15ff0db911f22Test
https://pubmed.ncbi.nlm.nih.gov/28404863Test

المؤلفون: Roderick T. Bronson, Xuebin Qin, Marcy E. MacDonald, Terry J. Lerner, Derek Stout, Tammy Gillis, Lakshmi Srinidhi, Janice A. Espinola, Kristen Auger Antonellis, Shumei Liu, Leah Rae Donahue, Hanlin Gao, Jerry R. Faust, Rose-Mary Boustany, Jonathan L. Haines, Susan L. Cotman

المصدر: The American Journal of Human Genetics. 70(2):324-335

مصطلحات موضوعية: Costa Rica, Male, Batten disease, DNA Mutational Analysis, Molecular Sequence Data, Biology, Frameshift mutation, Exon, Mice, Gene Frequency, Neuronal Ceroid-Lipofuscinoses, medicine, Genetics, Animals, Humans, Genetics(clinical), Amino Acid Sequence, RNA, Messenger, Cognitive decline, Genetics (clinical), Chromosomes, Human, Pair 15, Polymorphism, Genetic, Base Sequence, Haplotype, Chromosome Mapping, Membrane Proteins, Exons, Articles, medicine.disease, Venezuela, Stop codon, Pedigree, Haplotypes, CLN8, Mutation, Neuronal ceroid lipofuscinosis, Female, Sequence Alignment, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1960be1db57833d9890621270d20775Test