Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Qi L. Lu"'
Autor:
Christopher T. Esapa, R. A. Jeffrey McIlhinney, Adrian J. Waite, Matthew A. Benson, Jasmin Mirzayan, Henriett Piko, Ágnes Herczegfalvi, Rita Horvath, Veronika Karcagi, Maggie C. Walter, Hanns Lochmüller, Pierre J. Rizkallah, Qi L. Lu, Derek J. Blake
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Fukutin-related protein (FKRP, MIM ID 606596) variants cause a range of muscular dystrophies associated with hypo-glycosylation of the matrix receptor, α-dystroglycan. These disorders are almost exclusively caused by homozygous or compound heterozyg
Externí odkaz:
https://doaj.org/article/35da4e2141714c0fa0e8671065cea821
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 216-227 (2018)
Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A
Externí odkaz:
https://doaj.org/article/8bca695122484a2ebafc0333ab7a1f3b
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 216-227 (2018)
Molecular Therapy: Nucleic Acids, Vol 11, Iss C, Pp 216-227 (2018)
Autosomal recessive homozygous or compound heterozygous mutations in FKRP result in forms of muscular dystrophy-dystroglycanopathy varying in age of onset, clinical presentation, and disease progression, ranging from the severe Walker-Warburg, type A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::442db3a4f0f52677e47df0f307a19d1a
https://doi.org/10.1016/j.omtn.2018.02.008
https://doi.org/10.1016/j.omtn.2018.02.008
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:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
The laminin-binding glycan (matriglycan) on α-dystroglycan (α-DG) enables diverse roles, from neuronal development to muscle integrity. Reduction or loss of matriglycan has also been implicated in cancer development and metastasis, and specifically
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c5e946af7df3a5fc0836e200ad1fe79
https://pubmed.ncbi.nlm.nih.gov/32188898
https://pubmed.ncbi.nlm.nih.gov/32188898
Publikováno v:
Muscle Gene Therapy ISBN: 9783030030940
Muscular dystrophy-dystroglycanopathies (MDDGs) are neuromuscular disorders associated with aberrant O-glycosylation of α-dystroglycan—an extracellular peripheral membrane glycoprotein central to the dystrophin-glycoprotein complex. The majority o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19013e69f79d1a0af654a5a259481094
https://doi.org/10.1007/978-3-030-03095-7_27
https://doi.org/10.1007/978-3-030-03095-7_27
Publikováno v:
Molecular Cancer Therapeutics. 18:C024-C024
O-mannosylation of a-dystroglycan (α-DG) is an important modification in most tissues in mammals and plays diverse roles, from acting as viral receptors to neuronal development. The glycosylation produces a laminin-binding glycan (matriglycan) ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::912fd01c986bf5df21d303820c30c1b9
https://doi.org/10.1158/1535-7163.targ-19-c024
https://doi.org/10.1158/1535-7163.targ-19-c024
Autor:
Amy Harper, Sapana N. Shah, Peijuan Lu, Qi L. Lu, Lauren E. Bollinger, Bo Wu, Susan Sparks, Anthony Blaeser
Publikováno v:
The American journal of pathology. 188(4)
The third most common form of limb-girdle muscular dystrophies is caused by mutations of the Fukutin-related protein ( FKRP ) gene, with no effective therapy available. Selective estrogen receptor modulators, tamoxifen and raloxifene, have been widel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fd3bc1bd33e551bdca67dda7ae34952
https://pubmed.ncbi.nlm.nih.gov/29571322
https://pubmed.ncbi.nlm.nih.gov/29571322
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
Publikováno v:
The American journal of pathology. 187(2)
Agrin is a basement membrane-specific proteoglycan that can regulate orientation of cytoskeleton proteins and improve function of dystrophic skeletal muscle. In skeletal muscle, agrin binds with high affinity to laminin(s) and α-dystroglycan (α-DG)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b2fe05f0d4609ca0b75f974adc7d851
https://pubmed.ncbi.nlm.nih.gov/28107841
https://pubmed.ncbi.nlm.nih.gov/28107841