PMC Links for Protein (Select 4503431) - PMC

Select item 64692571.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Janice A. Dominov, Özgün Uyan, Diane McKenna‐Yasek, Babi Ramesh Reddy Nallamilli, Virginie Kergourlay, Marc Bartoli, Nicolas Levy, Judith Hudson, Teresinha Evangelista, Hanns Lochmuller, Martin Krahn, Laura Rufibach, Madhuri Hegde, Robert H. Brown, Jr

Ann Clin Transl Neurol. 2019 Apr; 6(4): 642–654. Published online 2019 Mar 3. doi: 10.1002/acn3.738

PMCID:: PMC6469257

Abstract Article PDF–1.4M

Select item 60533712.

FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins

Faraz M. Harsini, Sukanya Chebrolu, Kerry L. Fuson, Mark A. White, Anne M. Rice, R. Bryan Sutton

Sci Rep. 2018; 8: 10949. Published online 2018 Jul 19. doi: 10.1038/s41598-018-29184-1

PMCID:: PMC6053371

Abstract Article PDF–2.4M

Select item 59951513.

Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling

Ann-Katrin Piper, Samuel E. Ross, Gregory M. Redpath, Frances A. Lemckert, Natalie Woolger, Adam Bournazos, Peter A. Greer, Roger B. Sutton, Sandra T. Cooper

Cell Signal. Author manuscript; available in PMC 2018 Jun 11.

Published in final edited form as: Cell Signal. 2017 May; 33: 30–40. Published online 2017 Feb 10. doi: 10.1016/j.cellsig.2017.02.009

PMCID:: PMC5995151

Abstract Article PDF–1.6M

Select item 59927094.

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann, Junaid Gamieldien

BMC Med Genet. 2018; 19: 95. Published online 2018 Jun 7. doi: 10.1186/s12881-018-0613-x

PMCID:: PMC5992709

Abstract Article PDF–954K

Select item 56829675.

Limited proteolysis as a tool to probe the tertiary conformation of dysferlin and structural consequences of patient missense variant L344P

Natalie Woolger, Adam Bournazos, Reece A. Sophocleous, Frances J. Evesson, Angela Lek, Birgit Driemer, R. Bryan Sutton, Sandra T. Cooper

J Biol Chem. 2017 Nov 10; 292(45): 18577–18591. Published online 2017 Sep 13. doi: 10.1074/jbc.M117.790014

PMCID:: PMC5682967

Abstract Article PDF–4.0M

Select item 42305926.

Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair

G. M. I. Redpath, N. Woolger, A. K. Piper, F. A. Lemckert, A. Lek, P. A. Greer, K. N. North, S. T. Cooper

Mol Biol Cell. 2014 Oct 1; 25(19): 3037–3048. doi: 10.1091/mbc.E14-04-0947

PMCID:: PMC4230592

Abstract Article PDF–1.7M

Select item 39002337.

Dysferlin overexpression in skeletal muscle produces a progressive myopathy

Louise E. Glover, Kimberly Newton, Gomathi Krishnan, Roderick Bronson, Alexandra Boyle, Lisa S. Krivickas, Robert H. Brown, Jr.

Ann Neurol. Author manuscript; available in PMC 2014 Jan 23.

Published in final edited form as: Ann Neurol. 2010 Mar; 67(3): 384–393. doi: 10.1002/ana.21926

PMCID:: PMC3900233

Abstract Article PDF–1.8M

Select item 31793678.

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

Mafalda Cacciottolo, Gelsomina Numitone, Stefania Aurino, Imma Rosaria Caserta, Marina Fanin, Luisa Politano, Carlo Minetti, Enzo Ricci, Giulio Piluso, Corrado Angelini, Vincenzo Nigro

Eur J Hum Genet. 2011 Sep; 19(9): 974–980. Published online 2011 Apr 27. doi: 10.1038/ejhg.2011.70

PMCID:: PMC3179367

Abstract Article PDF–541K

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