Results 131 to 140 of about 4,634 (224)

Dysferlin in skeletal and heart muscle: from trafficking to therapy [PDF]

, 2017
Dysferlinopathies are a heterogeneous group of congenital muscle disorders characterized by late-onset muscular dystrophy and increased muscle prowess before onset of symptoms.
Bersch, Kristina
core   +1 more source

Nanodysferlins support membrane repair and binding to TRIM72/MG53 but do not localize to t-tubules or stabilize Ca2+ signaling

Molecular Therapy: Methods & Clinical Development
Mutations in the DYSF gene, encoding the protein dysferlin, lead to several forms of muscular dystrophy. In healthy skeletal muscle, dysferlin concentrates in the transverse tubules and is involved in repairing the sarcolemma and stabilizing Ca2 ...
Joaquin Muriel, Valeriy Lukyanenko, Thomas A. Kwiatkowski, Yi Li, Sayak Bhattacharya, Kassidy K. Banford, Daniel Garman, Hannah R. Bulgart, Roger B. Sutton, Noah Weisleder, Robert J. Bloch   +10 more
doaj   +1 more source

Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice

Journal of Lipid Research, 2019
Defects in the gene coding for dysferlin, a membrane-associated protein, affect many tissues, including skeletal muscles, with a resultant myopathy called dysferlinopathy.
Vanessa R. Haynes, Stacey N. Keenan, Jackie Bayliss, Erin M. Lloyd, Peter J. Meikle, Miranda D. Grounds, Matthew J. Watt   +6 more
doaj   +1 more source

Dysferlin self-interaction in living HEK293 cells shown by acceptor-selective photobleaching FRET assay. [PDF]

, 2013
(A) Confocal microscopy and total internal reflection fluorescence (TIRF) microscopy images of YFP-dysferlin expressed in HEK293 cells. Scale bars: 10 µm.
Sandeep Pallikkuth (339527), Zhanjia Hou (316171), Seth L. Robia (316175), Gregory A. Mignery (339528), Renzhi Han (276195), Li Xu (108702)   +5 more
core   +1 more source

Unmasking Potential Intracellular Roles For Dysferlin through Improved Immunolabeling Methods [PDF]

, 2011
Mutations in the DYSF gene that severely reduce the levels of the protein dysferlin are implicated in muscle-wasting syndromes known as dysferlinopathies.
Richard M. Lovering, Joseph A. Roche, Lisa W. Ru, Wendy G. Resneck, Andrea M. O’Neill, Robert J. Bloch   +5 more
core   +1 more source

Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B.

PLoS ONE, 2019
There is no cure or beneficial management option for Limb-Girdle muscular dystrophy (MD) type 2B (LGMD2B). Losartan, a blood pressure (BP) lowering angiotensin II (AngII) receptor type 1 (ATR1) blocker (ARB) with unique anti-transforming growth factor-β (
Zoe White, Nadia Milad, Arash Y Tehrani, William Wei-Han Chen, Graham Donen, Stephanie L Sellers, Pascal Bernatchez   +6 more
doaj   +1 more source

Dysferlin [PDF]

, 2020
openaire   +1 more source

Dysferlin (DYSF) [PDF]

Science-Business eXchange, 2014
openaire   +1 more source

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration [PDF]

Mutations in dysferlin cause limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin is proposed to play a role in muscle membrane repair.
Bushby K, Laval SH, Huang Y, Van Remoortere A, Baudier J, Straub V, Anderson LVB, Benaud C, Frants RR, Deelder A, Den Dunnen JT, Van Der Maarel SM   +11 more
core  

Dysferlin-deficient muscular dystrophy features amyloidosis [PDF]

Objective: Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi\u27s myopathy. The consequences of DYSF mutations on protein structure are poorly understood.
Bushby K, Moore SA, Carl M, Bähring S, Rocken C, Spuler S, Straub V, Wenzel K, Vinkemeier U, Zabojszcza J   +9 more
core