Title : SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA - Esapa_2007_Hum.Mol.Genet_16_327 |
Author(s) : Esapa CT , Waite A , Locke M , Benson MA , Kraus M , McIlhinney RA , Sillitoe RV , Beesley PW , Blake DJ |
Ref : Hum Mol Genet , 16 :327 , 2007 |
Abstract : |
PubMedSearch : Esapa_2007_Hum.Mol.Genet_16_327 |
PubMedID: 17200151 |
Title : Glycosylation defects and muscular dystrophy - |
Author(s) : Blake DJ , Esapa CT , Martin-Rendon E , McIlhinney RA |
Ref : Advances in Experimental Medicine & Biology , 564 :97 , 2005 |
PubMedID: 16400811 |
Title : Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells - Esapa_2005_Hum.Mol.Genet_14_295 |
Author(s) : Esapa CT , McIlhinney RA , Blake DJ |
Ref : Hum Mol Genet , 14 :295 , 2005 |
Abstract : |
PubMedSearch : Esapa_2005_Hum.Mol.Genet_14_295 |
PubMedID: 15574464 |
Title : The effects of post-translational processing on dystroglycan synthesis and trafficking - Esapa_2003_FEBS.Lett_555_209 |
Author(s) : Esapa CT , Bentham GR , Schroder JE , Kroger S , Blake DJ |
Ref : FEBS Letters , 555 :209 , 2003 |
Abstract : |
PubMedSearch : Esapa_2003_FEBS.Lett_555_209 |
PubMedID: 14644417 |
Title : Functional requirements for fukutin-related protein in the Golgi apparatus - Esapa_2002_Hum.Mol.Genet_11_3319 |
Author(s) : Esapa CT , Benson MA , Schroder JE , Martin-Rendon E , Brockington M , Brown SC , Muntoni F , Kroger S , Blake DJ |
Ref : Hum Mol Genet , 11 :3319 , 2002 |
Abstract : |
PubMedSearch : Esapa_2002_Hum.Mol.Genet_11_3319 |
PubMedID: 12471058 |
Title : The neurobiology of duchenne muscular dystrophy: learning lessons from muscle? - Blake_2000_Trends.Neurosci_23_92 |
Author(s) : Blake DJ , Kroger S |
Ref : Trends in Neurosciences , 23 :92 , 2000 |
Abstract : |
PubMedSearch : Blake_2000_Trends.Neurosci_23_92 |
PubMedID: 10675908 |
Title : Utrophin mRNA expression in muscle is not restricted to the neuromuscular junction. - Vater_1998_Mol.Cell.Neurosci_10_229 |
Author(s) : Vater R , Young C , Anderson LV , Lindsay S , Blake DJ , Davies KE , Zuellig R , Slater CR , Anderson LVB |
Ref : Molecular & Cellular Neurosciences , 10 :229 , 1998 |
Abstract : |
PubMedSearch : Vater_1998_Mol.Cell.Neurosci_10_229 |
PubMedID: 9604203 |
Title : Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein - Blake_1996_J.Biol.Chem_271_7802 |
Author(s) : Blake DJ , Nawrotzki R , Peters MF , Froehner SC , Davies KE |
Ref : Journal of Biological Chemistry , 271 :7802 , 1996 |
Abstract : |
PubMedSearch : Blake_1996_J.Biol.Chem_271_7802 |
PubMedID: 8631824 |