Wellcome Trust Centre for Human Genetics

Publications

Locke M; Tinsley CL; Benson MA; Blake, DJ. (Jul 2009). TRIM32 is an E3 ubiquitin ligase for dysbindin. Hum Mol Genet. 18:2344-2358. Publisher weblink
Petretto E; Sarwar R; Grieve I; Lu H; Kumaran MK; Muckett PJ; Mangion J; Schroen B; Benson M; Punjabi PP; Prasad SK; Pennell DJ; Kiesewetter C; Tasheva ES; Corpuz LM; Webb MD; Conrad GW; Kurtz TW; Kren V; Fischer J; Hubner N; Pinto YM; Pravenec M; Aitman TJ; Cook SA.(May 2008). Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass. Nat Genet. 2008 May;40(5):546-52. Pubmed link
Keramaris-Vrantsis E; Lu PJ; Doran T; Zillmer A; Ashar J; Esapa CT; Benson MA; Blake DJ; Rosenfeld J; Lu QL. (Oct 2007). Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo. Muscle Nerve. 36:455-465. Publisher weblink DOI.
Esapa CT; Waite A; Locke M; Benson MA; Kraus M; McIlhinney RA; Sillitoe RV; Beesley PW; Blake DJ. (01 Feb 2007). SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet. 16:327-342. Publisher weblink DOI.
Talbot K; Cho DS; Ong WY; Benson MA; Han LY; Kazi HA; Kamins J; Hahn CG; Blake DJ; Arnold SE. (15 Oct 2006). Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin. HUM MOL GENET. 15:3041-3054. DOI.
Jennings KA; Loder MK; Sheward WJ; Pei Q; Deacon RM; Benson MA; Olverman HJ; Hastie ND; Harmar AJ; Shen S; et al. (30 Aug 2006). Increased expression of the 5-HT transporter confers a low-anxiety phenotype linked to decreased 5-HT transmission. J Neurosci. 26:8955-8964. Publisher weblink DOI.
Benson MA; Sillitoe RV; Blake DJ. (Sep 2004). Schizophrenia genetics: dysbindin under the microscope. Trends Neurosci. 27:516-519. Publisher weblink DOI.
Talbot K; Eidem WL; Tinsley CL; Benson MA; Thompson EW; Smith RJ; Hahn CG; Siegel SJ; Trojanowski JQ; Gur RE; et al. (May 2004). Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia. J CLIN INVEST. 113:1353-1363. DOI.
Benson MA; Tinsley CL; Blake DJ. (12 Mar 2004). Myospryn is a novel binding partner for dysbindin in muscle. J Biol Chem. 279:10450-10458. Publisher weblink DOI.
Burgueno J; Blake DJ; Benson MA; Tinsley CL; Esapa CT; Canela EI; Penela P; Mallol J; Mayro F; Lluis C; et al. (26 Sep 2003). The adenosine A(2A) receptor interacts with the actin-binding protein alpha-actinin. J BIOL CHEM. 278:37545-37552. DOI.
Sillitoe RV; Benson MA; Blake DJ; Hawkes R. (23 Jul 2003). Abnormal dysbindin expression in cerebellar mossy fiber Synapses in the mdx mouse model of Duchenne muscular dystrophy. J NEUROSCI. 23:6576-6585.
Benson MA; Esapa CT; Schröder JE; Martin-Rendon E; Brockington M; Brown SC; Muntoni F; Kröger S; Blake DJ. (15 Dec 2002). Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet. 11:3319-3331. Publisher weblink.
Brockington M; Blake DJ; Prandini P; Brown SC; Torelli S; Benson MA; Ponting CP; Estournet B; Romero NB; Mercuri E; et al. (Dec 2001). Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 69:1198-1209. Publisher weblink DOI.
Brockington M; Yuva Y; Prandini P; Brown SC; Torelli S; Benson MA; Herrmann R; Anderson LV; Bashir R; Burgunder JM; et al. (01 Dec 2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 10:2851-2859. Publisher weblink.
Blake DJ; Brockington M; Muntoni F; Benson MA. (Nov 2001). Golgi-localisation of fukutin and fukutin-related protein: implications for muscular dystrophy. MOL BIOL CELL. 12:85A-85A.
Brockington M; Blake DJ; Prandini P; Brown SC; Torelli S; Benson MA; Ponting CP; Estournet B; Romero N; Voit T; et al. (Oct 2001). A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. AM J HUM GENET. 69:229-229.
Benson MA; Newey SE; Martin-Rendon E; Hawkes R; Blake DJ. (29 Jun 2001). Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain. J Biol Chem. 276:24232-24241. Publisher weblink DOI.
Newey SE; Howman EV; Ponting CP; Benson MA; Nawrotzki R; Loh NY; Davies KE; Blake DJ. (02 Mar 2001). Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle. J Biol Chem. 276:6645-6655. Publisher weblink DOI.
Newey SE; Benson MA; Ponting CP; Davies KE; Blake DJ. (19 Oct 2000). Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex. Curr Biol. 10:1295-1298. Publisher weblink.
Blake DJ; Hawkes R; Benson MA; Beesley PW. (01 Nov 1999). Different dystrophin-like complexes are expressed in neurons and glia. J Cell Biol. 147:645-658. Publisher weblink.

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