| Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy. | Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy.
Paulke NJ, Fleischhacker C, Wegener JB, Riedemann GC, Cretu C, Mushtaq M, Zaremba N, Möbius W, Zühlke Y, Wedemeyer J, Liebmann L, Gorshkova AA, Kownatzki-Danger D, Wagner E, Kohl T, Wichmann C, Jahn O, Urlaub H, Toischer K, Hasenfuß G, Moser T, Preobraschenski J, Lenz C, Rog-Zielinska EA, Lehnart SE, Brandenburg S. | 09/24/2024 |
| Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy. | Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
Chen YL, Wu WB, Wang P, Yip PK, Wu YN, Lin YH, Lin WN., Free PMC Article | 01/3/2024 |
| Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. | Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.
Fontelonga T, Hall AJ, Brown JL, Jung YL, Alexander MS, Dominov JA, Mouly V, Vieira N, Zatz M, Vainzof M, Gussoni E., | 12/22/2023 |
| Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. | Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore U, Straub V, Barresi R, Guglieri M, Hayhurst H, Schaefer AM, Laing NG, Lamont PJ, Ravenscroft G. | 11/5/2022 |
| DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene. | DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene.
Zhang X, He D, Xiang Y, Wang C, Liang B, Li B, Qi D, Deng Q, Yu H, Lu Z, Zheng F. | 07/23/2022 |
| Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective. | Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
Zhong H, Yu M, Lin P, Zhao Z, Zheng X, Xi J, Zhu W, Zheng Y, Zhang W, Lv H, Yan C, Hu J, Wang Z, Lu J, Zhao C, Luo S, Yuan Y. | 07/16/2022 |
| Null variants in DYSF result in earlier symptom onset. | Null variants in DYSF result in earlier symptom onset.
Park HJ, Hong YB, Hong JM, Yun U, Kim SW, Shin HY, Kim SM, Choi YC. | 01/1/2022 |
| Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis. | Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.
Peng LS, Li ZM, Chen G, Liu FY, Luo Y, Guo JB, Gao GD, Deng YH, Xu LX, Zhou JY, Zou Y. | 11/13/2021 |
| The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain. | The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
Izumi R, Takahashi T, Suzuki N, Niihori T, Ono H, Nakamura N, Katada S, Kato M, Warita H, Tateyama M, Aoki Y, Aoki M. | 11/13/2021 |
| Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients. | Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Charnay T, Blanck V, Cerino M, Bartoli M, Riccardi F, Bonello-Palot N, Pécheux C, Nguyen K, Lévy N, Gorokhova S, Krahn M. | 09/18/2021 |
| Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells. | Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells.
Verwey N, Gazzoli I, Krause S, Mamchaoui K, Mouly V, Aartsma-Rus A. | 07/10/2021 |
| Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity. | Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity.
Rekik S, Sakka S, Romdhane SB, Amer YB, Lehkim L, Farhat N, Mahfoudh KB, Authier FJ, Dammak M, Mhiri C. | 06/26/2021 |
| AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy. | AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy.
Ono H, Suzuki N, Kanno SI, Kawahara G, Izumi R, Takahashi T, Kitajima Y, Osana S, Nakamura N, Akiyama T, Ikeda K, Shijo T, Mitsuzawa S, Nagatomi R, Araki N, Yasui A, Warita H, Hayashi YK, Miyake K, Aoki M., Free PMC Article | 04/13/2021 |
| Radiological findings in siblings with dysferlin mutation with diverse phenotype. | Radiological findings in siblings with dysferlin mutation with diverse phenotype.
Shioya A, Takuma H, Takahashi T, Ishii A, Aoki M, Tamaoka A. | 03/20/2021 |
| In patients with limb-girdle muscular dystrophy type 2B, two new mutations were found in DYSF. A nonsense mutation c.2419C > T, which eliminates downstream part of the protein, and a novel one c. (1,053 + 1_1,054-1)_(1,397 + 1_1,398-1)del causing deletion of the DNA from exon 12 to exon 15. Two unrelated families are from the same ethnicity and share the same mutation and haplotype patterns, suggesting a founder mutation. | Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
Mojbafan M, Tina S, Zafarghandi Motlagh F, Surguchov A, Nilipour Y, Zeinali S., Free PMC Article | 06/20/2020 |
| Results support a role of dysferlin in actin cytoskeleton dynamics in muscle cells and suggest that this mechanism could be deregulated in dysferlinopathy. | Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains.
Báez-Matus X, Figueroa-Cares C, Gónzalez-Jamett AM, Almarza-Salazar H, Arriagada C, Maldifassi MC, Guerra MJ, Mouly V, Bigot A, Caviedes P, Cárdenas AM., Free PMC Article | 05/9/2020 |
| The initial C2 domains of dysferlin and myoferlin are 57% similar (42% identical). Unlike dysferlin C2A, myoferlin binds two Ca2+ with equivalent affinity. Unlike dysferlin C2A, the membrane binding loop 1 of myoferlin C2A is relatively rigid. | Structural Basis for the Distinct Membrane Binding Activity of the Homologous C2A Domains of Myoferlin and Dysferlin.
Harsini FM, Bui AA, Rice AM, Chebrolu S, Fuson KL, Turtoi A, Bradberry M, Chapman ER, Sutton RB., Free PMC Article | 04/4/2020 |
| Deep intronic mutations of dysferlin can be a common underlying cause of dysferlinopathy | Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.
Dominov JA, Uyan Ö, McKenna-Yasek D, Nallamilli BRR, Kergourlay V, Bartoli M, Levy N, Hudson J, Evangelista T, Lochmuller H, Krahn M, Rufibach L, Hegde M, Brown RH Jr., Free PMC Article | 02/22/2020 |
| Results show that, in addition to clinically-defined dysferlin FerA mutations, is a novel four-helix bundle fold with its own Ca(2+)-dependent phospholipid-binding activity which interaction with the membrane is enhanced by the presence of Ca(2+). | FerA is a Membrane-Associating Four-Helix Bundle Domain in the Ferlin Family of Membrane-Fusion Proteins.
Harsini FM, Chebrolu S, Fuson KL, White MA, Rice AM, Sutton RB., Free PMC Article | 10/19/2019 |
| MiRNA target prediction software, TargetScan, revealed dysferlin (DYSF) and protein kinase cAMP-activated catalytic subunit alpha (PRKACA), as target genes of miR-92a-1-5p. | Forskolin-mediated BeWo cell fusion involves down-regulation of miR-92a-1-5p that targets dysferlin and protein kinase cAMP-activated catalytic subunit alpha.
Dubey R, Malhotra SS, Gupta SK. | 07/27/2019 |
| As muscular biopsy showed inflammatory infiltrates, polymyositis was suspected and immunosuppressive treatment was initiated. However, clinical improvement could not be achieved. Gene sequencing of the DYSF-gene showed a previously unreported homozygous mutation. | ["Therapy-resistant polymyositis" - is the diagnosis correct?].
Ceccon G, Lehmann HC, Neuen-Jacob E, Meng G, Fink GR, Wunderlich G. | 07/6/2019 |
| two compound heterozygous mutations of the DYSF gene probably underlie the limb-girdle muscular dystrophy 2B in the two pedigrees | [Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].
Liu Z, Liao H, Zhang X, Zhang H, Liu H, Wang H, Liu S. | 06/29/2019 |
| DYSF mutation is associated with Neuromuscular Disease. | Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.
Jalali-Sefid-Dashti M, Nel M, Heckmann JM, Gamieldien J., Free PMC Article | 02/23/2019 |
| arginine-rich motif crucial for phosphatidylserine accumulation in sarcolemma repair | Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.
Middel V, Zhou L, Takamiya M, Beil T, Shahid M, Roostalu U, Grabher C, Rastegar S, Reischl M, Nienhaus GU, Strähle U., Free PMC Article | 08/25/2018 |
| A novel duplication of 22 bases (c.897_918dup; p.Gly307Leufs5X) in the DYSF gene was identified in a family suffering from Miyoshi myopathy | Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.
Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ., Free PMC Article | 08/4/2018 |