A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

Authors: Dadi Gao, Elisabetta Morini, Monica Salani, Aram J. Krauson, Anil Chekuri, Neeraj Sharma, Ashok Ragavendran, Serkan Erdin, Emily M. Logan, Wencheng Li, Amal Dakka, Jana Narasimhan, Xin Zhao, Nikolai Naryshkin, Christopher R. Trotta, Kerstin A. Effenberger, Matthew G. Woll, Vijayalakshmi Gabbeta, Gary Karp, Yong Yu, Graham Johnson, William D. Paquette, Garry R. Cutting, Michael E. Talkowski, Susan A. Slaugenhaupt

Source: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/a1488d5827774183bb159243db93b815

Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV

Authors: Molly Mepyans, Livia Andrzejczuk, Jahree Sosa, Sierra Smith, Shawn Herron, Samantha DeRosa, Susan A. Slaugenhaupt, Albert Misko, Yulia Grishchuk, Kirill Kiselyov

Source: Disease Models & Mechanisms, Vol 13, Iss 7 (2020)

Subject Terms: mucolipidosis type iv, lysosome, trpml1, mucolipin-1, myelination, oligodendrocyte, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/13/7/dmm044230; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/2be17794d96e4af8a4f42ce17d73fa0c

Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV

Authors: Yulia Grishchuk, Karina A. Peña, Jessica Coblentz, Victoria E. King, Daniel M. Humphrey, Shirley L. Wang, Kirill I. Kiselyov, Susan A. Slaugenhaupt

Source: Disease Models & Mechanisms, Vol 8, Iss 12, Pp 1591-1601 (2015)

Subject Terms: Lysosome, Myelination, Oligodendrocytes, Transient receptor potential channel mucolipin-1, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/8/12/1591; https://doaj.org/toc/1754-8411; https://doaj.org/toc/1754-8403

Access URL: https://doaj.org/article/9ee9cc7ff7c24f39b43e0ef3cef988dc

Macroautophagy is defective in mucolipin-1-deficient mouse neurons

Authors: Cyntia Curcio-Morelli, Florie A. Charles, Matthew C. Micsenyi, Yi Cao, Bhuvarahamurthy Venugopal, Marsha F. Browning, Kostantin Dobrenis, Susan L. Cotman, Steven U. Walkley, Susan A. Slaugenhaupt

Source: Neurobiology of Disease, Vol 40, Iss 2, Pp 370-377 (2010)

Subject Terms: Mucolipidosis type IV, Lysosomal disease, Mucolipin 1, Macroautophagy, Neuronal storage, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996110002068; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/17279a60f4304259b6ca5d676521f56c

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