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Items: 1 to 20 of 69

1.
Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb‐girdle muscular dystrophy
Yen‐Lin Chen, Wen‐Bin Wu, Pei Wang, Ping‐Keung Yip, Yi‐No Wu, Ying‐Hung Lin, Wei‐Ning Lin
Physiol Rep. 2023 Dec; 11(24): e15887. Published online 2023 Dec 18. doi: 10.14814/phy2.15887
PMCID:
PMC10727958
AbstractArticlePDF–3.6M
2.
Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains
Ximena Báez-Matus, Cindel Figueroa-Cares, Arlek M. Gónzalez-Jamett, Hugo Almarza-Salazar, Christian Arriagada, María Constanza Maldifassi, María José Guerra, Vincent Mouly, Anne Bigot, Pablo Caviedes, Ana M. Cárdenas
Int J Mol Sci. 2020 Jan; 21(1): 37. Published online 2019 Dec 19. doi: 10.3390/ijms21010037
PMCID:
PMC6981584
AbstractArticlePDF–2.3M
3.
Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect
Marzieh Mojbafan, Shirzadeh Tina, Fatemeh Zafarghandi Motlagh, Andrei Surguchov, Yalda Nilipour, Sirous Zeinali
Mol Genet Genomic Med. 2019 Dec; 7(12): e1029. Published online 2019 Nov 6. doi: 10.1002/mgg3.1029
PMCID:
PMC6900382
AbstractArticlePDF–1.4M
4.
Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair
Angela Lek, Frances J. Evesson, Frances A. Lemckert, Gregory M. I. Redpath, Ann-Katrin Lueders, Lynne Turnbull, Cynthia B. Whitchurch, Kathryn N. North, Sandra T. Cooper
J Neurosci. 2013 Mar 20; 33(12): 5085–5094. doi: 10.1523/JNEUROSCI.3560-12.2013
PMCID:
PMC6704986
AbstractArticlePDF–7.0M
5.
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
AbstractArticlePDF–1.4M
6.
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
AbstractArticlePDF–954K
7.
Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet
Florian Barthélémy, Aurélia Defour, Nicolas Lévy, Martin Krahn, Marc Bartoli
J Neuromuscul Dis. 2018; 5(1): 21–28. Published online 2018 Feb 21. doi: 10.3233/JND-170251
PMCID:
PMC5836414
AbstractArticlePDF–465K
8.
Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy
Muhammad I. Ullah, Arsalan Ahmad, Milena Žarković, Syed S. Shah, Abdul Nasir, Saqib Mahmood, Wasim Ahmad, Christian A. Hübner, Muhammad J. Hassan
Saudi Med J. 2017 Dec; 38(12): 1190–1195. doi: 10.15537/smj.2017.12.20989
PMCID:
PMC5787628
AbstractArticlePDF–1.8M
9.
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
AbstractArticlePDF–4.0M
10.
Dysferlin mutations and mitochondrial dysfunction
Amy E. Vincent, Hannah S. Rosa, Charlotte L. Alston, John P. Grady, Karolina A. Rygiel, Mariana C. Rocha, Rita Barresi, Robert W. Taylor, Doug M. Turnbull
Neuromuscul Disord. 2016 Nov; 26(11): 782–788. doi: 10.1016/j.nmd.2016.08.008
PMCID:
PMC5091283
AbstractArticlePDF–2.7M
11.
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy
Su-Qin Jin, Meng Yu, Wei Zhang, He Lyu, Yun Yuan, Zhao-Xia Wang
Chin Med J (Engl) 2016 Oct 5; 129(19): 2287–2293. doi: 10.4103/0366-6999.190671
PMCID:
PMC5040013
AbstractArticlePDF–1.5M
12.
Dysferlin Binds SNAREs (Soluble N-Ethylmaleimide-sensitive Factor (NSF) Attachment Protein Receptors) and Stimulates Membrane Fusion in a Calcium-sensitive Manner
Sara J. Codding, Naomi Marty, Nazish Abdullah, Colin P. Johnson
J Biol Chem. 2016 Jul 8; 291(28): 14575–14584. Published online 2016 May 10. doi: 10.1074/jbc.M116.727016
PMCID:
PMC4938179
AbstractArticlePDF–1.4M
13.
Quantitation of the Calcium and Membrane Binding Properties of the C2 Domains of Dysferlin
Nazish Abdullah, Murugesh Padmanarayana, Naomi J. Marty, Colin P. Johnson
Biophys J. 2014 Jan 21; 106(2): 382–389. doi: 10.1016/j.bpj.2013.11.4492
Correction in:
Biophys J. 2014 Apr 1; 106(7): 1548.
PMCID:
PMC3907215
AbstractArticlePDF–1.3M
14.
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
AbstractArticlePDF–1.8M
15.
Crystal structures of the human Dysferlin inner DysF domain
Altin Sula, Ambrose R Cole, Corin Yeats, Christine Orengo, Nicholas H Keep
BMC Struct Biol. 2014; 14: 3. Published online 2014 Jan 17. doi: 10.1186/1472-6807-14-3
PMCID:
PMC3898210
AbstractArticlePDF–2.4M
16.
Dysferlin and Other Non-Red Cell Proteins Accumulate in the Red Cell Membrane of Diamond-Blackfan Anemia Patients
Esther N. Pesciotta, Sira Sriswasdi, Hsin-Yao Tang, David W. Speicher, Philip J. Mason, Monica Bessler
PLoS One. 2014; 9(1): e85504. Published online 2014 Jan 14. doi: 10.1371/journal.pone.0085504
PMCID:
PMC3891812
AbstractArticlePDF–4.2M
17.
Dysferlin Regulates Cell Adhesion in Human Monocytes
Antoine de Morrée, Bàrbara Flix, Ivana Bagaric, Jun Wang, Marlinde van den Boogaard, Laure Grand Moursel, Rune R. Frants, Isabel Illa, Eduard Gallardo, Rene Toes, Silvère M. van der Maarel
J Biol Chem. 2013 May 17; 288(20): 14147–14157. Published online 2013 Apr 4. doi: 10.1074/jbc.M112.448589
PMCID:
PMC3656271
AbstractArticlePDF–2.9M
18.
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B
Toshiaki Takahashi, Masashi Aoki, Naoki Suzuki, Maki Tateyama, Chikako Yaginuma, Hitomi Sato, Miho Hayasaka, Hitomi Sugawara, Mariko Ito, Emi Abe-Kondo, Naoko Shimakura, Tohru Ibi, Satoshi Kuru, Tadashi Wakayama, Gen Sobue, Naoki Fujii, Toshio Saito, Tsuyoshi Matsumura, Itaru Funakawa, Eiichiro Mukai, Toru Kawanami, Mitsuya Morita, Mineo Yamazaki, Takashi Hasegawa, Jun Shimizu, Shoji Tsuji, Shigeki Kuzuhara, Hiroyasu Tanaka, Masaru Yoshioka, Hidehiko Konno, Hiroshi Onodera, Yasuto Itoyama
J Neurol Neurosurg Psychiatry. 2013 Apr; 84(4): 433–440. Published online 2012 Dec 15. doi: 10.1136/jnnp-2011-301339
PMCID:
PMC3595148
AbstractArticlePDF–215K
19.
Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency following AAV5 Gene Transfer
William E. Grose, K. Reed Clark, Danielle Griffin, Vinod Malik, Kimberly M. Shontz, Chrystal L. Montgomery, Sarah Lewis, Robert H. Brown, Jr., Paul M. L. Janssen, Jerry R. Mendell, Louise R. Rodino-Klapac
PLoS One. 2012; 7(6): e39233. Published online 2012 Jun 15. doi: 10.1371/journal.pone.0039233
PMCID:
PMC3376115
AbstractArticlePDF–971K
20.
Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy
Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa
PLoS One. 2011; 6(12): e29061. Published online 2011 Dec 16. doi: 10.1371/journal.pone.0029061
PMCID:
PMC3241698
AbstractArticlePDF–452K

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