Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina

Autor: Helen L. May-Simera, Jessica D. Gumerson, Chun Gao, Maria Campos, Stephanie M. Cologna, Tina Beyer, Karsten Boldt, Koray D. Kaya, Nisha Patel, Friedrich Kretschmer, Matthew W. Kelley, Ronald S. Petralia, Megan G. Davey, Tiansen Li

Publikováno v: Cell Reports, Vol 17, Iss 5, Pp 1399-1413 (2016)

Summary: Microtubule actin crosslinking factor 1 (MACF1) plays a role in the coordination of microtubules and actin in multiple cellular processes. Here, we show that MACF1 is also critical for ciliogenesis in multiple cell types. Ablation of Macf1 i

Externí odkaz: https://doaj.org/article/ae37a51d7c3d4235b1f67c2071ed7b25

Early mitochondrial stress and metabolic imbalance lead to photoreceptor cell death in retinal degeneration

Autor: Matthew Brooks, Jessica D. Gumerson, Alexis Boleda, Anupam Kumar Mondal, Raul Covian, Linn Gieser, Anand Swaroop, Ke Jiang, Donald A. Fox, Robert S. Balaban, Yogita K. Adlakha, Jacob Nellissery, Jung-Woong Kim, Angel Aponte

Neurodegenerative diseases exhibit extensive genetic heterogeneity and complex etiology with varying onset and severity. To deduce the mechanism leading to retinal degeneration, we adopted a temporal multi-omics approach and examined molecular and ce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::74ab179419b48f7ec7f49d6bbf4b3c57
https://doi.org/10.1101/2021.10.10.463827

Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing

Autor: Jessica D, Gumerson, Amal, Alsufyani, Wenhan, Yu, Jingqi, Lei, Xun, Sun, Lijin, Dong, Zhijian, Wu, Tiansen, Li

Publikováno v: Gene therapy. 29(1-2)

Mutations in the gene for Retinitis Pigmentosa GTPase Regulator (RPGR) cause the X-linked form of inherited retinal degeneration, and the majority are frameshift mutations in a highly repetitive, purine-rich region of RPGR known as the OFR15 exon. Tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0f2b7da90f4128b2564833788a02189a
https://pubmed.ncbi.nlm.nih.gov/34257417

Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina

Autor: Maria M Campos, Megan Davey, Tiansen Li, Nisha Patel, Chun Gao, Stephanie M. Cologna, Ronald S. Petralia, Helen May-Simera, Friedrich Kretschmer, Tina Beyer, Matthew W. Kelley, Karsten Boldt, Koray Dogan Kaya, Jessica D. Gumerson

Publikováno v: May-Simera, H L, Gumerson, J D, Gao, C, Campos, M, Cologna, S M, Beyer, T, Boldt, K, Kaya, K D, Patel, N, Kretschmer, F, Kelley, M W, Petralia, R S, Davey, M G & Li, T 2016, ' Loss of MACF1 Abolishes Ciliogenesis and Disrupts Apicobasal Polarity Establishment in the Retina ', Cell Reports, vol. 17, no. 5, pp. 1399-1413 . https://doi.org/10.1016/j.celrep.2016.09.089
Cell Reports, Vol 17, Iss 5, Pp 1399-1413 (2016)

Summary: Microtubule actin crosslinking factor 1 (MACF1) plays a role in the coordination of microtubules and actin in multiple cellular processes. Here, we show that MACF1 is also critical for ciliogenesis in multiple cell types. Ablation of Macf1 i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cc812f3846b123363f19209d662947f

Dysferlin stabilizes stress-induced Ca 2+ signaling in the transverse tubule membrane

Autor: Joseph A. Roche, Jessica D. Gumerson, Steven S. Vogel, Christopher W. Ward, Jaclyn P. Kerr, Robert J. Bloch, Joaquin Muriel, Andrew P. Ziman, Emily Kleinhans-Welte, Amber L. Mueller

Publikováno v: Proceedings of the National Academy of Sciences. 110:20831-20836

Dysferlinopathies, most commonly limb girdle muscular dystrophy 2B and Miyoshi myopathy, are degenerative myopathies caused by mutations in the DYSF gene encoding the protein dysferlin. Studies of dysferlin have focused on its role in the repair of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25303f7fa21e4c6d955984693c00e47d
https://doi.org/10.1073/pnas.1307960110