Keele Research Repository

Article

Brown, SJ ORCID: https://orcid.org/0000-0001-9671-7054, Kline, RA, Synowsky, SA, Shirran, SL, Holt, I, Sillence, KA, Claus, P, Wirth, B, Wishart, TM and Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X (2022) The proteome signatures of fibroblasts from patients with severe, intermediate and mild spinal muscular atrophy show limited overlap. Cells, 11 (17).

Holt, I, Fuller, HR, Schindler, RFR, Shirran, SL, Brand, T and Morris, GE (2020) An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. BMC Molecular and Cell Biology, 21 (1). 88 - ?.

Storey, EC, Holt, I, Morris, GE and Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X (2020) Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy. Neuromuscular Disorders, 30 (6). pp. 443-456.

Soltic, D, Shorrock, HK, Allardyce, H, Wilson, EL, Holt, I, Synowsky, SA, Shirran, SL, Parson, SH, Gillingwater, TH and Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X (2019) Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy. Human Molecular Genetics, 28 (21). pp. 3515-3527.

Holt, I, Fuller, H ORCID: https://orcid.org/0000-0001-8868-896X, Lam, LT, Sewry, CA, Shirran, SL, Zhang, Q, Shanahan, CM and Morris, GE (2019) Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle. Scientific Reports.

Lam, LT, Holt, I, Laitila, J, Hanif, M, Pelin, K, Wallgren-Pettersson, C, Sewry, CA and Morris, GE (2018) Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation. Scientific Reports, 8.

Schwartz, C, Fischer, M, Mamchaoui, K, Bigot, A, Lok, T, Verdier, C, Duperray, A, Michel, R, Holt, I, Voit, T, Quijano-Roy, S, Bonne, G and Coirault, C (2017) Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1. Scientific Reports, 7 (1). 1253 - ?.

Zhou, C, Li, C, Zhou, B, Sun, H, Koullourou, V, Holt, I, Puckelwartz, MJ, Warren, DT, Hayward, R, Lin, Z, Zhang, L, Morris, GE, McNally, EM, Shackleton, S, Rao, L, Shanahan, CM and Zhang, Q (2017) Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis. Human Molecular Genetics, 26 (12). 2258 - 2276.

Holt, I, Duong, NT, Zhang, Q, Lam, LET, Sewry, CA, Mamchaoui, K, Shanahan, CM and Morris, GE (2016) Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody. BMC Cell Biol, 17 (1). 26 - ?.

Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X, Marani, L, Holt, I, Woodhams, PL, Webb, MM and Gates, MA (2016) Monoclonal antibody Py recognizes neurofilament heavy chain and is a selective marker for large diameter neurons in the brain Brain Structure and Function. Brain Structure and Function, 222 (2). pp. 807-879.

Duong, NT, Morris, GE, Lam, LT, Zhang, Q, Sewry, CA, Shanahan, CM and Holt, I (2014) Nesprins: tissue-specific expression of epsilon and other short isoforms. PLoS One, 9 (4). e94380 -?.

Tomé, S, Holt, I, Edelmann, W, Morris, GE, Munnich, A, Pearson, CE and Gourdon, G (2009) MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice. PLoS Genetics, 5 (5). e1000482 -?.

Dansithong, W, Wolf, CM, Sarkar, P, Paul, S, Chiang, A, Holt, I, Morris, GE, Branco, D, Sherwood, MC, Comai, L, Berul, CI and Reddy, S (2008) Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features. PLoS One, 3 (12). e3968 -?.

Conference or Workshop Item

Storey, E, Holt, I, Owen, S, Synowsky, S, Shirran, S, Morris, G and Fuller, HR ORCID: https://orcid.org/0000-0001-8868-896X (2022) Characterising the molecular consequences of LMNA-related congenital muscular dystrophy in patient myoblasts. In: 27th International Hybrid Annual Congress of the World Muscle Society, 11-15 Oct 2022, Halifax, Nova Scotia, Canada.