Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Lacramioara Fabian"'
Autor:
Lacramioara Fabian, James J. Dowling
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
LAMA2-related congenital muscular dystrophy (CMD; LAMA2-MD), also referred to as merosin deficient CMD (MDC1A), is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene. LAMA2 encodes laminin α2, a subunit of the ext
Externí odkaz:
https://doaj.org/article/1eca6038987a4c08af3e8854d1c7fe48
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0231364 (2020)
Phosphoinositides (PIPs) and their regulatory enzymes are key players in many cellular processes and are required for aspects of vertebrate development. Dysregulated PIP metabolism has been implicated in several human diseases, including a subset of
Externí odkaz:
https://doaj.org/article/91b3d1faa52b4b5ea850fce6db5c80c0
Autor:
Maria Grazia Giansanti, Timothy E Vanderleest, Cayla E Jewett, Stefano Sechi, Anna Frappaolo, Lacramioara Fabian, Carmen C Robinett, Julie A Brill, Dinah Loerke, Margaret T Fuller, J Todd Blankenship
Publikováno v:
PLoS Genetics, Vol 11, Iss 11, p e1005632 (2015)
Mitotic and cytokinetic processes harness cell machinery to drive chromosomal segregation and the physical separation of dividing cells. Here, we investigate the functional requirements for exocyst complex function during cell division in vivo, and d
Externí odkaz:
https://doaj.org/article/8de4ad93216a4a009f11ce4bc5ab5cda
Publikováno v:
Human Molecular Genetics. 28:4186-4196
Dynamin 2 (DNM2) encodes a ubiquitously expressed large GTPase with membrane fission capabilities that participates in the endocytosis of clathrin-coated vesicles. Heterozygous mutations in DNM2 are associated with two distinct neuromuscular disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc865b286822e1ee4e7db78e7d405d71
https://doi.org/10.1093/hmg/ddz260
https://doi.org/10.1093/hmg/ddz260
Autor:
Xiucheng Cui, Adeel Sheikh, James J. Dowling, Lacramioara Fabian, Sarah J. Smith, Steven A. Moore, Ramil R. Noche
Publikováno v:
Hum Mol Genet
Congenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. Currently, no cure or disease modifying therapy has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf4915720656626cad0c5e39085a522
https://pubmed.ncbi.nlm.nih.gov/34568901
https://pubmed.ncbi.nlm.nih.gov/34568901
Autor:
Andrea Jurisicova, Yonit Tsatskis, Rod Bremner, John R. B. Perry, Kyunga Kim, Brian Ciruna, Daniel Potter, Dorothea Godt, Wade H. Dunham, Yu Sun, Michael I. Robson, Shu Wu, Robyn Rosenfeld, Julie A. Brill, Karen Krchma, Tim Schedl, Anne-Claude Gingras, Joel Pearson, Curtis W. Boswell, Helen McNeill, Kyunghee Choi, Laurence Pelletier, Didier Hodzic, Jin Meng, Lacramioara Fabian, Yi Qu, Ariz Mohammad, Eric C. Schirmer, João Gonçalves, Jun Wu, Xian Wang
Publikováno v:
Science Advances
Tsatskis, Y, Rosenfeld, R, Pearson, J D, Boswell, C, Qu, Y, Kim, K, Fabian, L, Mohammed, A, Wang, X, Robson, M, Krchma, K, Wu, J, Gonçalves, J, Hodzic, D, Wu, S, Potter, D, Pelletier, L, Dunham, W H, Gingras, A-C, Sun, Y, Meng, J, Godt, D, Schedl, T, Ciruna, B, Choi, K, Perry, J R B, Bremner, R, Schirmer, E C, Brill, J A, Jurisicova, A & McNeill, H 2020, ' The NEMP family supports metazoan fertility and nuclear envelope stiffness ', Science Advances, vol. 6, eabb4591 . https://doi.org/10.1126/sciadv.abb4591
Tsatskis, Y, Rosenfeld, R, Pearson, J D, Boswell, C, Qu, Y, Kim, K, Fabian, L, Mohammed, A, Wang, X, Robson, M, Krchma, K, Wu, J, Gonçalves, J, Hodzic, D, Wu, S, Potter, D, Pelletier, L, Dunham, W H, Gingras, A-C, Sun, Y, Meng, J, Godt, D, Schedl, T, Ciruna, B, Choi, K, Perry, J R B, Bremner, R, Schirmer, E C, Brill, J A, Jurisicova, A & McNeill, H 2020, ' The NEMP family supports metazoan fertility and nuclear envelope stiffness ', Science Advances, vol. 6, eabb4591 . https://doi.org/10.1126/sciadv.abb4591
Loss of Nemp leads to softening of the germline nuclear envelope and loss of fertility.
Human genome-wide association studies have linked single-nucleotide polymorphisms (SNPs) in NEMP1 (nuclear envelope membrane protein 1) with early menopause;
Human genome-wide association studies have linked single-nucleotide polymorphisms (SNPs) in NEMP1 (nuclear envelope membrane protein 1) with early menopause;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::526b5f096f3c9b8dfa6e5d0b8a6b78dd
Publikováno v:
Seminars in Cell & Developmental Biology. 59:2-9
Phosphatidylinositol phosphates (PIPs)1 are membrane lipids with crucial roles during cell morphogenesis, including the establishment of cytoskeletal organization, membrane trafficking, cell polarity, cell-cycle control and signaling. Recent studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e79953d9855ee958c78f0740476fe8
https://doi.org/10.1016/j.semcdb.2016.06.010
https://doi.org/10.1016/j.semcdb.2016.06.010
Publikováno v:
Journal of Cell Science.
Cilia are cellular antennae that are essential for human development and physiology. A large number of genetic disorders linked to cilium dysfunction are associated with proteins that localize to the ciliary transition zone (TZ), a structure at the b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70dea4505b578f80350116a1c72d0919
https://doi.org/10.1242/jcs.218297
https://doi.org/10.1242/jcs.218297
Autor:
Raquel Martin, Julie A. Brill, Hong Duan, Fernando Bejarano, J. Graham Ruby, Eric C. Lai, Lacramioara Fabian, Jiayu Wen, Diane Bortolamiol-Becet, Katsutomo Okamura
Publikováno v:
Molecular Cell. 57:165-178
Although endogenous siRNAs (endo-siRNAs) have been described in many species, still little is known about their endogenous utility. Here, we show that Drosophila hairpin RNAs (hpRNAs) generate an endo-siRNA class with predominant expression in testes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e62d40f460a402fddc5e44242e04e3d
https://doi.org/10.1016/j.molcel.2014.11.025
https://doi.org/10.1016/j.molcel.2014.11.025
Autor:
Tiago Ferreira, Valentina Gandin, Lacramioara Fabian, Greco Hernández, Paul Lasko, Hong Han, Joanna Zuberek, Nahum Sonenberg, Julie A. Brill
Publikováno v:
Development. 139:3211-3220
Gene expression is translationally regulated during many cellular and developmental processes. Translation can be modulated by affecting the recruitment of mRNAs to the ribosome, which involves recognition of the 5′ cap structure by the cap-binding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7144b4449ead934297205023822734e5
https://doi.org/10.1242/dev.073122
https://doi.org/10.1242/dev.073122