Benson MA - Search Results

1

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.

Esapa CT, McIlhinney RAJ, Waite AJ, Benson MA, Mirzayan J, Piko H, Herczegfalvi Á, Horvath R, Karcagi V, Walter MC, Lochmüller H, Rizkallah PJ, Lu QL, Blake DJ. Esapa CT, et al. Among authors: benson ma. Front Mol Biosci. 2023 Dec 7;10:1279700. doi: 10.3389/fmolb.2023.1279700. eCollection 2023. Front Mol Biosci. 2023. PMID: 38161385 Free PMC article.

2

Keramaris-Vrantsis E, Lu PJ, Doran T, Zillmer A, Ashar J, Esapa CT, Benson MA, Blake DJ, Rosenfeld J, Lu QL. Keramaris-Vrantsis E, et al. Among authors: benson ma. Muscle Nerve. 2007 Oct;36(4):455-65. doi: 10.1002/mus.20833. Muscle Nerve. 2007. PMID: 17554798

3

TRIM32 is an E3 ubiquitin ligase for dysbindin.

Locke M, Tinsley CL, Benson MA, Blake DJ. Locke M, et al. Among authors: benson ma. Hum Mol Genet. 2009 Jul 1;18(13):2344-58. doi: 10.1093/hmg/ddp167. Epub 2009 Apr 6. Hum Mol Genet. 2009. PMID: 19349376 Free PMC article.

4

Functional requirements for fukutin-related protein in the Golgi apparatus.

Esapa CT, Benson MA, Schröder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kröger S, Blake DJ. Esapa CT, et al. Among authors: benson ma. Hum Mol Genet. 2002 Dec 15;11(26):3319-31. doi: 10.1093/hmg/11.26.3319. Hum Mol Genet. 2002. PMID: 12471058

5

Myospryn is a novel binding partner for dysbindin in muscle.

Benson MA, Tinsley CL, Blake DJ. Benson MA, et al. J Biol Chem. 2004 Mar 12;279(11):10450-8. doi: 10.1074/jbc.M312664200. Epub 2003 Dec 19. J Biol Chem. 2004. PMID: 14688250 Free article.

6

SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.

Esapa CT, Waite A, Locke M, Benson MA, Kraus M, McIlhinney RA, Sillitoe RV, Beesley PW, Blake DJ. Esapa CT, et al. Among authors: benson ma. Hum Mol Genet. 2007 Feb 1;16(3):327-42. doi: 10.1093/hmg/ddl472. Epub 2007 Jan 2. Hum Mol Genet. 2007. PMID: 17200151

7

Ryanodine receptors are part of the myospryn complex in cardiac muscle.

Benson MA, Tinsley CL, Waite AJ, Carlisle FA, Sweet SMM, Ehler E, George CH, Lai FA, Martin-Rendon E, Blake DJ. Benson MA, et al. Sci Rep. 2017 Jul 24;7(1):6312. doi: 10.1038/s41598-017-06395-6. Sci Rep. 2017. PMID: 28740084 Free PMC article.

8

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Brockington M, et al. Among authors: benson ma. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. doi: 10.1093/hmg/10.25.2851. Hum Mol Genet. 2001. PMID: 11741828

9

Schizophrenia genetics: dysbindin under the microscope.

Benson MA, Sillitoe RV, Blake DJ. Benson MA, et al. Trends Neurosci. 2004 Sep;27(9):516-9. doi: 10.1016/j.tins.2004.06.004. Trends Neurosci. 2004. PMID: 15331232 Review.

10

Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex.

Newey SE, Benson MA, Ponting CP, Davies KE, Blake DJ. Newey SE, et al. Among authors: benson ma. Curr Biol. 2000 Oct 19;10(20):1295-8. doi: 10.1016/s0960-9822(00)00760-0. Curr Biol. 2000. PMID: 11069112 Free article.

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