Different Dystrophin-like Complexes Are Expressed in Neurons and Glia

Por Blake, Derek J., Hawkes, Richard, Benson, Matthew A., Beesley, Phillip W.
Publicado em 1999

TRIM32 is an E3 ubiquitin ligase for dysbindin

Por Locke, Matthew, Tinsley, Caroline L., Benson, Matthew A., Blake, Derek J.
Publicado em 2009

Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

Por Forrest, Marc P., Waite, Adrian J., Martin-Rendon, Enca, Blake, Derek J.
Publicado em 2013

Myoclonus dystonia and muscular dystrophy: ɛ‐sarcoglycan is part of the dystrophin‐associated protein complex in brain

Por Waite, Adrian J., Carlisle, Francesca A., Chan, Yiumo Michael, Blake, Derek J.
Publicado no Mov Disord (2016)

β-dystrobrevin, a member of the dystrophin-related protein family

Por Blake, Derek J., Nawrotzki, Ralph, Loh, Nellie Y., Górecki, Dariusz C., Davies, Kay E.
Publicado em 1998

Synaptic Dysbindin-1 Reductions in Schizophrenia Occur in an Isoform-Specific Manner Indicating Their Subsynaptic Location

Por Talbot, Konrad, Louneva, Natalia, Cohen, Julia W., Kazi, Hala, Blake, Derek J., Arnold, Steven E.
Publicado em 2011

Role of β-Dystrobrevin in Nonmuscle Dystrophin-Associated Protein Complex-Like Complexes in Kidney and Liver

Por Loh, Nellie Y., Nebenius-Oosthuizen, Daniela, Blake, Derek J., Smith, Andrew J. H., Davies, Kay E.
Publicado em 2001

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion()

Por Waite, Adrian J., Bäumer, Dirk, East, Simon, Neal, James, Morris, Huw R., Ansorge, Olaf, Blake, Derek J.
Publicado em 2014

TCF4, Schizophrenia, and Pitt-Hopkins Syndrome

Por Blake, Derek J., Forrest, Marc, Chapman, Ria M., Tinsley, Caroline L., O'Donovan, Michael C., Owen, Michael J.
Publicado em 2010

Acetylcholine receptors are required for agrin-induced clustering of postsynaptic proteins

Por Marangi, P.Angelo, Forsayeth, John R., Mittaud, Peggy, Erb-Vögtli, Susanne, Blake, Derek J., Moransard, Martijn, Sander, Andreas, Fuhrer, Christian
Publicado em 2001

Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia

Por Grütz, Karen, Seibler, Philip, Weissbach, Anne, Lohmann, Katja, Carlisle, Francesca A., Blake, Derek J., Westenberger, Ana, Klein, Christine, Grünewald, Anne
Publicado no Sci Rep (2017)

Adeno-associated Virus 9 Mediated FKRP Gene Therapy Restores Functional Glycosylation of α-dystroglycan and Improves Muscle Functions

Por Xu, Lei, Lu, Pei Juan, Wang, Chi-Hsien, Keramaris, Elizabeth, Qiao, Chunping, Xiao, Bin, Blake, Derek J, Xiao, Xiao, Lu, Qi Long
Publicado em 2013

Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression

Por Tang, Junxia, LeGros, Robert P., Louneva, Natalia, Yeh, Lilly, Cohen, Julia W., Hahn, Chang-Gyu, Blake, Derek J., Arnold, Steven E., Talbot, Konrad
Publicado em 2009

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

Por Xiao, Jianfeng, Vemula, Satya R., Xue, Yi, Khan, Mohammad M., Carlisle, Francesca A., Waite, Adrian J., Blake, Derek J., Dragatsis, Ioannis, Zhao, Yu, LeDoux, Mark S.
Publicado no Neurobiol Dis (2016)

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan...

Por Brockington, Martin, Blake, Derek J., Prandini, Paola, Brown, Susan C., Torelli, Silvia, Benson, Matthew A., Ponting, Chris P., Estournet, Brigitte, Romero, Norma B., Mercuri, Eugenio, Voit, Thomas, Sewry, Caroline A., Guicheney, Pascale, Muntoni, Francesco
Publicado em 2001

Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia

Por Talbot, Konrad, Eidem, Wess L., Tinsley, Caroline L., Benson, Matthew A., Thompson, Edward W., Smith, Rachel J., Hahn, Chang-Gyu, Siegel, Steven J., Trojanowski, John Q., Gur, Raquel E., Blake, Derek J., Arnold, Steven E.
Publicado em 2004

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

Por Koppers, Max, Blokhuis, Anna M., Westeneng, Henk‐Jan, Terpstra, Margo L., Zundel, Caroline A. C., Vieira de Sá, Renata, Schellevis, Raymond D., Waite, Adrian J., Blake, Derek J., Veldink, Jan H., van den Berg, Leonard H., Pasterkamp, R. Jeroen
Publicado no Ann Neurol (2015)

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Por Li, Wei, Zhang, Qing, Oiso, Naoki, Novak, Edward K, Gautam, Rashi, O'Brien, Edward P, Tinsley, Caroline L, Blake, Derek J, Spritz, Richard A, Copeland, Neal G, Jenkins, Nancy A, Amato, Dominick, Roe, Bruce A, Starcevic, Marta, Dell'Angelica, Esteban C, Elliott, Rosemary W, Mishra, Vishnu, Kingsmore, Stephen F, Paylor, Richard E, Swank, Richard T
Publicado em 2003

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

Por Peall, Kathryn J., Kurian, Manju A., Wardle, Mark, Waite, Adrian J., Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip E., Lynch, Bryan, Kirov, George, O’Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J., Owen, Michael J., Morris, Huw R.
Publicado no J Neurol (2014)

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Por Peall, Kathryn J., Smith, Daniel J., Kurian, Manju A., Wardle, Mark, Waite, Adrian J., Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip, Bajaj, Narinder, Lynch, Bryan, Kirov, George, O’Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J., Owen, Michael J., Morris, Huw R.
Publicado em 2013