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Literature DB >> 10508505

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.

R E Bittner, L V Anderson, E Burkhardt, R Bashir, E Vafiadaki, S Ivanova, T Raffelsberger, I Maerk, H Höger, M Jung, M Karbasiyan, M Storch, H Lassmann, J A Moss, K Davison, R Harrison, K M Bushby, A Reis.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1999 PMID： 10508505 DOI： 10.1038/13770

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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72 in total

Review 1. Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair.

Authors: Angela Lek; Frances J Evesson; R Bryan Sutton; Kathryn N North; Sandra T Cooper
Journal: Traffic Date: 2011-09-06 Impact factor: 6.215

Review 2. Membrane Repair: Mechanisms and Pathophysiology.

Authors: Sandra T Cooper; Paul L McNeil
Journal: Physiol Rev Date: 2015-10 Impact factor: 37.312

3. Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.

Authors: Bilal A Azakir; Sabrina Di Fulvio; Jochen Kinter; Michael Sinnreich
Journal: J Biol Chem Date: 2012-02-08 Impact factor: 5.157

Review 4. Immunobiology of Inherited Muscular Dystrophies.

Authors: James G Tidball; Steven S Welc; Michelle Wehling-Henricks
Journal: Compr Physiol Date: 2018-09-14 Impact factor: 9.090

5. Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin.

Authors: Joel R McDade; Daniel E Michele
Journal: Hum Mol Genet Date: 2013-11-07 Impact factor: 6.150

Review 6. Animal models for genetic neuromuscular diseases.

Authors: Mariz Vainzof; Danielle Ayub-Guerrieri; Paula C G Onofre; Poliana C M Martins; Vanessa F Lopes; Dinorah Zilberztajn; Lucas S Maia; Karen Sell; Lydia U Yamamoto
Journal: J Mol Neurosci Date: 2008-01-18 Impact factor: 3.444

7. Dysfunction of dysferlin-deficient hearts.

Authors: Katrin Wenzel; Christian Geier; Fatimunnisa Qadri; Norbert Hubner; Herbert Schulz; Bettina Erdmann; Volkmar Gross; David Bauer; Ralf Dechend; Rainer Dietz; Karl Josef Osterziel; Simone Spuler; Cemil Ozcelik
Journal: J Mol Med (Berl) Date: 2007-09-09 Impact factor: 4.599