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Items: 1 to 20 of 136

1.

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

Woolger N, Bournazos A, Sophocleous RA, Evesson FJ, Lek A, Driemer B, Sutton RB, Cooper ST.

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

PMID:
28904177
2.

Dysferlin mutations and mitochondrial dysfunction.

Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Nov;26(11):782-788. doi: 10.1016/j.nmd.2016.08.008. Epub 2016 Aug 29.

3.

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

Jin SQ, Yu M, Zhang W, Lyu H, Yuan Y, Wang ZX.

Chin Med J (Engl). 2016 Oct 5;129(19):2287-93. doi: 10.4103/0366-6999.190671.

4.

Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies.

Cárdenas AM, González-Jamett AM, Cea LA, Bevilacqua JA, Caviedes P.

Exp Neurol. 2016 Sep;283(Pt A):246-54. doi: 10.1016/j.expneurol.2016.06.026. Epub 2016 Jun 25. Review.

PMID:
27349407
5.

Dysferlin Binds SNAREs (Soluble N-Ethylmaleimide-sensitive Factor (NSF) Attachment Protein Receptors) and Stimulates Membrane Fusion in a Calcium-sensitive Manner.

Codding SJ, Marty N, Abdullah N, Johnson CP.

J Biol Chem. 2016 Jul 8;291(28):14575-84. doi: 10.1074/jbc.M116.727016. Epub 2016 May 10.

6.

Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy.

Tarnopolsky MA, Hatcher E, Shupak R.

Can J Neurol Sci. 2016 May;43(3):381-4. doi: 10.1017/cjn.2015.386. Epub 2016 Feb 25.

PMID:
26911292
7.

Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain.

Espinoza-Fonseca LM.

Mol Biosyst. 2016 Mar;12(3):973-81. doi: 10.1039/c5mb00772k.

PMID:
26806107
8.

Dysferlinopathy in Iran: Clinical and genetic report.

Fatehi F, Nafissi S, Urtizberea JA, Blanck-Labelle V, Lévy N, Krahn M, Dbouk MB, Attarian S.

J Neurol Sci. 2015 Dec 15;359(1-2):256-9. doi: 10.1016/j.jns.2015.11.009. Epub 2015 Nov 11.

PMID:
26671124
9.

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Xi J, Blandin G, Lu J, Luo S, Zhu W, Béroud C, Pécheux C, Labelle V, Lévy N, Urtizberea JA, Zhao C, Krahn M.

Neurol India. 2014 Nov-Dec;62(6):635-9. doi: 10.4103/0028-3886.149386.

10.

Identification of splicing defects caused by mutations in the dysferlin gene.

Kergourlay V, Raï G, Blandin G, Salgado D, Béroud C, Lévy N, Krahn M, Bartoli M.

Hum Mutat. 2014 Dec;35(12):1532-41. doi: 10.1002/humu.22710.

PMID:
25312915
11.

Increased dysferlin expression in Duchenne muscular dystrophy.

Vontzalidis A, Terzis G, Manta P.

Anal Quant Cytopathol Histpathol. 2014 Feb;36(1):15-22.

PMID:
24902367
12.

Genetic and epigenetic determinants of low dysferlin expression in monocytes.

Gallardo E, Ankala A, Núñez-Álvarez Y, Hegde M, Diaz-Manera J, Luna ND, Pastoret A, Suelves M, Illa I.

Hum Mutat. 2014 Aug;35(8):990-7. doi: 10.1002/humu.22591. Epub 2014 Jun 24.

PMID:
24838345
13.

Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

Ankala A, Nallamilli BR, Rufibach LE, Hwang E, Hegde MR.

Muscle Nerve. 2014 Sep;50(3):333-9. doi: 10.1002/mus.24195. Epub 2014 Jun 16.

PMID:
24488599
14.

Quantitation of the calcium and membrane binding properties of the C2 domains of dysferlin.

Abdullah N, Padmanarayana M, Marty NJ, Johnson CP.

Biophys J. 2014 Jan 21;106(2):382-9. doi: 10.1016/j.bpj.2013.11.4492.

15.

Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients.

Pesciotta EN, Sriswasdi S, Tang HY, Speicher DW, Mason PJ, Bessler M.

PLoS One. 2014 Jan 14;9(1):e85504. doi: 10.1371/journal.pone.0085504. eCollection 2014.

16.

Crystal structures of the human Dysferlin inner DysF domain.

Sula A, Cole AR, Yeats C, Orengo C, Keep NH.

BMC Struct Biol. 2014 Jan 17;14:3. doi: 10.1186/1472-6807-14-3.

17.

Dysferlin is a newly identified binding partner of AβPP and it co-aggregates with amyloid-β42 within sporadic inclusion-body myositis (s-IBM) muscle fibers.

Cacciottolo M, Nogalska A, D'Agostino C, Engel WK, Askanas V.

Acta Neuropathol. 2013 Nov;126(5):781-3. doi: 10.1007/s00401-013-1186-6. Epub 2013 Oct 4. No abstract available.

PMID:
24091414
18.

Dysferlin regulates cell adhesion in human monocytes.

de Morrée A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM.

J Biol Chem. 2013 May 17;288(20):14147-57. doi: 10.1074/jbc.M112.448589. Epub 2013 Apr 4.

19.

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].

Nilsson MI, Laureano ML, Saeed M, Tarnopolsky MA.

Muscle Nerve. 2013 May;47(5):740-7. doi: 10.1002/mus.23666. Epub 2013 Mar 21. Erratum in: Muscle Nerve. 2013 Aug;48(2):310.

PMID:
23519732
20.

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

Lek A, Evesson FJ, Lemckert FA, Redpath GM, Lueders AK, Turnbull L, Whitchurch CB, North KN, Cooper ST.

J Neurosci. 2013 Mar 20;33(12):5085-94. doi: 10.1523/JNEUROSCI.3560-12.2013.

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