Results 51 to 60 of about 2,422 (183)

The Dysferlin Domain-Only Protein, Spo73, Is Required for Prospore Membrane Extension in Saccharomyces cerevisiae [PDF]

open access: yes, 2016
Sporulation of Saccharomyces cerevisiae is a developmental process in which an ascus containing four haploid spores forms from a diploid cell. During this process, newly formed membrane structures called prospore membranes extend along the nuclear ...
Gao Xiao-Dong   +10 more
core   +1 more source

Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells

open access: yesStem Cells Translational Medicine, 2019
Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu   +9 more
doaj   +1 more source

A Novel Dysferlin‐Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy

open access: yesThe FASEB Journal, Volume 40, Issue 6, 31 March 2026.
When the cell membrane is injured, extracellular calcium enters the cell, triggering the accumulation of dysferlin at the lesion site. In the presence of dysferlin, CK2 is efficiently recruited to the damaged membrane and maintains its kinase activity through interaction with dysferlin.
Naoko Nakamura   +27 more
wiley   +1 more source

Physiological conditions influencing regenerative potential of stem cells [PDF]

open access: yes, 2016
Stem cells are being used in the treatment of cardivovascular diseases. Here, we review the physiologic and pathologic conditions that impact the regenerative potential of stem cells in the treatment of cardiovascular diseases which include the influence
Avitabile, Daniele   +3 more
core   +1 more source

Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy

open access: yesNeuromuscular Diseases, 2016
Miyoshi myopathy (MM) is a rare distal form of limb-girdle muscular dystrophies characterized by weakness primarily affecting the calves in adolescence or young adulthood, with slow progression, the ascending pattern of involvement of muscle groups in an atrophic process, and with obvious clinical polymorphism at onset (3 allelic variants are described)
V. P. Fedotov   +2 more
openaire   +3 more sources

MyomiRs Expression in Limb Girdle Muscular Dystrophy

open access: yesIUBMB Life, Volume 77, Issue 10, October 2025.
ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri   +7 more
wiley   +1 more source

Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B

open access: yesJournal of Lipid Research, 2018
Progressive limb and girdle muscle atrophy leading to loss of ambulation is a hallmark of dysferlinopathies, which include limb-girdle muscular dystrophy type 2B and Miyoshi myopathy.
Stephanie L. Sellers   +9 more
doaj   +1 more source

Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue

open access: yesIndian Journal of Pathology and Microbiology, 2011
Background: Dysferlinopathy is an autosomal recessive-limb girdle muscular dystrophy (AR-LGMD) caused due to the defect in gene encoding dysferlin, a sarcolemmal protein.
N Gayathri   +6 more
doaj   +1 more source

High‐Density Lipoprotein‐Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin‐Deficient Limb–Girdle Muscular Dystrophy Type R2

open access: yesJournal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 4, August 2025.
ABSTRACT Background Limb–girdle muscular dystrophy (MD) type R2 (LGMDR2, formerly LGMD2B) is an autosomal recessive form of MD caused by variants in the dysferlin gene, DYSF. It leads to slow proximal and distal muscle weakening that generally results in loss of ambulation around early adulthood but without the lethal cardiorespiratory dysfunction ...
Zoe White   +21 more
wiley   +1 more source

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