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Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies

Publication: 
FEBS J. 2013 Jan 19. doi: 10.1111/febs.12142.
Authors: 
Terrill JR, Radley-Crabb HG, Iwasaki T, Lemckert FA, Arthur PG, Grounds MD.
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/23332128

AAV5.Dysferlin Gene Therapy as a Treatment for Dysferlinopathies

Objective: 
This AAV5.Dysferlin gene transfer project is a stepwise, milestone driven approach to bring an efficacious product with a proven safety profile to clinical trial for LGMD2B.

This project is devoted to translating AAV5.Dysferlin gene transfer to the clinic.  The first phase will focus on completing the pre-clinical data necessary to support an IND application to th

Louise Rodino-Klapac, PhD and Jerry R. Mendell, MD

The Research Institute at Nationwide Children's Hospital

Dr. Rodino-Klapac, PhD is an assistant professor in the Department of Pediatrics and Principle Investigator at the Center for Gene Therapy at Nationwide Children's Hospital. Jerry R. Mendell, MD is a Professor of Pediatrics and Neurology and Director of the Center for Gene therapy at the Research Institute at Nationwide Children's Hospital.

Research Projects

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

Publication: 
J Neurol Neurosurg Psychiatry. 2013 Apr;84(4):433-40. doi: 10.1136/jnnp-2011-301339. Epub 2012 Dec 15.
Authors: 
Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/23243261

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.

Publication: 
Orphanet J Rare Dis. 2013 Feb 14;8:26. doi: 10.1186/1750-1172-8-26.
Authors: 
Walter MC, Reilich P, Thiele S, Schessl J, Schreiber H, Reiners K, Kress W, Müller-Reible C, Vorgerd M, Urban P, Schrank B, Deschauer M, Schlotter-Weigel B, Kohnen R, Lochmüller H.
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/23406536

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Publication: 
Skelet Muscle. 2013 Feb 15;3(1):3. doi: 10.1186/2044-5040-3-3.
Authors: 
Blandin G, Marchand S, Charton K, Danièle N, Gicquel E, Boucheteil JB, Bentaib A, Barrault L, Stockholm D, Bartoli M, Richard I.
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/23414517

Muscular dystrophy in dysferlin-deficient mouse models

Publication: 
Neuromuscul Disord. 2013 May;23(5):377-87. doi: 10.1016/j.nmd.2013.02.004. Epub 2013 Mar 7.
Authors: 
Hornsey MA, Laval SH, Barresi R, Lochmüller H, Bushby K.
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/23473732

Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair

Publication: 
J Neurosci. 2013 Mar 20;33(12):5085-94. doi: 10.1523/JNEUROSCI.3560-12.2013
Authors: 
Lek A, Evesson FJ, Lemckert FA, Redpath GM, Lueders AK, Turnbull L, Whitchurch CB, North KN, Cooper ST.
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/23516275

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis

Publication: 
Muscle Nerve. 2013 May;47(5):740-7. doi: 10.1002/mus.23666. Epub 2013 Mar 21.
Authors: 
Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA
Link: 
www.ncbi.nlm.nih.gov/pubmed/23519732
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