Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Elizabeth Keramaris"'
Publikováno v:
Muscle & Nerve. 55:582-590
Introduction: Mutations in the Fukutin related protein (FKRP) gene are characterized by a lack of functionally glycosylated α-dystroglycan (F-α-DG) in muscles. A small number of fibers retain the capacity to produce strong IIH6 reactive glycosylate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15301f01819d40e5b126a071abd58c42
https://doi.org/10.1002/mus.25378
https://doi.org/10.1002/mus.25378
Publikováno v:
Neuromuscular Disorders. 25:474-484
In dystroglycanopathies, lack of glycosylated alpha-dystroglycan (α-DG) alters membrane fragility leading to fiber damage and repetitive cycles of muscle degeneration and regeneration. However the effect of the glycosylation of α-DG on muscle regen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de96ef15d994f507515f87bfe7a1e1c2
https://doi.org/10.1016/j.nmd.2015.03.004
https://doi.org/10.1016/j.nmd.2015.03.004
Publikováno v:
Human Gene Therapy Methods. 25:187-196
Multiple genes (e.g., POMT1, POMT2, POMGnT1, ISPD, GTDC2, B3GALNT2, FKTN, FKRP, and LARGE) are known to be involved in the glycosylation pathway of α-dystroglycan (α-DG). Mutations of these genes result in muscular dystrophies with wide phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdaa55ee6a05d29161805b89f3adb862
https://doi.org/10.1089/hgtb.2013.151
https://doi.org/10.1089/hgtb.2013.151
Autor:
Pei Juan Lu, Xiao Xiao, Chunping Qiao, Lei Xu, Qi Long Lu, Chi Hsien Wang, Derek J. Blake, Bin Xiao, Elizabeth Keramaris
Publikováno v:
Molecular Therapy. 21(10):1832-1840
Mutations in the FKRP gene are associated with a wide range of muscular dystrophies from mild limb-girdle muscular dystrophy (LGMD) 2I to severe Walker–Warburg syndrome and muscle-eye-brain disease. The characteristic biochemical feature of these d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b7ebf568f23606fc780307645a27194
Publikováno v:
Musclenerve. 55(4)
Mutations in the Fukutin related protein (FKRP) gene are characterized by a lack of functionally glycosylated α-dystroglycan (F-α-DG) in muscles. A small number of fibers retain the capacity to produce strong IIH6 reactive glycosylated-α-DG (g-α-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d9f419d1750c2d9d259b6a9b4d4d264
https://pubmed.ncbi.nlm.nih.gov/27515093
https://pubmed.ncbi.nlm.nih.gov/27515093
Autor:
Elizabeth Keramaris-Vrantsis, Hsin I. Ma, Chunping Qiao, Juan Li, Chi Hsien Wang, Hui Zheng, Jiangang Jiang, Ruhang Tang, Peijuan Lu, Yiumo Michael Chan, Qilong Lu, Bin Xiao, Xiao Xiao
Publikováno v:
The American Journal of Pathology. 178:261-272
Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by mutations in the fukutin-related protein (FKRP) gene. Unlike its severe allelic forms, LGMD2I usually involves slower onset and milder course without defects in the central nervous system. The l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::643cea9bc0658e5b933af1e4424fcd14
https://doi.org/10.1016/j.ajpath.2010.11.020
https://doi.org/10.1016/j.ajpath.2010.11.020
Autor:
Derek J. Blake, Helen E. Gruber, Jeffrey Rosenfeld, Elizabeth Keramaris-Vrantsis, Jignya Ashar, Natalia Zinchenko, James Norton, Qi L. Lu, Hart G.W. Lidov, Randy J. Thresher, Yiumo Michael Chan
Publikováno v:
Human Molecular Genetics. 19:3995-4006
Mutations in fukutin-related protein (FKRP) cause a common subset of muscular dystrophies characterized by aberrant glycosylation of alpha-dystroglycan (α-DG), collectively known as dystroglycanopathies. The clinical variations associated with FKRP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e307704c0274e988193f5a390ac93a0
https://doi.org/10.1093/hmg/ddq314
https://doi.org/10.1093/hmg/ddq314
Autor:
Vladamir A. Ruzhynsky, Richard A. Flavell, David S. Park, Roger J. Davis, Steve M. Callaghan, Ruth S. Slack, Estelle Wong, Elizabeth Keramaris
Publikováno v:
Journal of Biological Chemistry. 283:405-415
Retinoblastoma-deficient mice show massive neuronal damage and deficits in both CNS and PNS tissue. Previous work in the field has shown that death is regulated through distinct processes where CNS tissue undergoes death regulated by the tumor suppre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a8dbf0ec15d65000ccf014dc06b6b1e
https://doi.org/10.1074/jbc.m701552200
https://doi.org/10.1074/jbc.m701552200
Autor:
Allen Zillmer, Jeffrey Rosenfeld, Qi L. Lu, Timothy Doran, Pei J. Lu, Derek J. Blake, Matthew A. Benson, Jignya Ashar, Elizabeth Keramaris-Vrantsis, Christopher T. Esapa
Publikováno v:
Muscle & Nerve. 36:455-465
Mutations in the fukutin-related protein gene (FKRP) are associated with a spectrum of diseases from mild limb-girdle muscular dystrophy type 2I to severe congenital muscular dystrophy type 1C, muscle-eye-brain disease (MEB), and Walker-Warburg syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1efaabd66801379f86129a66c5ebf85
https://doi.org/10.1002/mus.20833
https://doi.org/10.1002/mus.20833
Autor:
Rod Bremner, Michael L. Shelanski, Elizabeth Keramaris, Herbert M. Geller, Lloyd A. Greene, Erick J. Morris, David S. Park, Michele Rosenbaum, Jaya Padmanabhan
Publikováno v:
The Journal of Neuroscience. 20:3104-3114
Neuronal death evoked by DNA damage requires cyclin-dependent kinase 4 (Cdk4) and 6 activity and is accompanied by elevation of cyclin D1-associated kinase activity. Because Cdk4/6 phosphorylates retinoblastoma protein (pRb) family members that then
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5db56ecfe133535a5b0f5383749300b
https://doi.org/10.1523/jneurosci.20-09-03104.2000
https://doi.org/10.1523/jneurosci.20-09-03104.2000