Dysferlin

A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES.

Also Known As:

Networked: 460 relevant articles (10 outcomes, 34 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Aoki, Masashi: 15 articles (01/2020 - 12/2002)
2.	Takahashi, Toshiaki: 15 articles (01/2020 - 12/2002)
3.	Gallardo, Eduard: 14 articles (11/2020 - 01/2002)
4.	Spuler, Simone: 13 articles (01/2022 - 11/2005)
5.	Nagaraju, Kanneboyina: 13 articles (01/2022 - 03/2008)
6.	Krahn, Martin: 13 articles (01/2021 - 08/2005)
7.	Bloch, Robert J: 12 articles (01/2022 - 10/2008)
8.	Bushby, Kate: 12 articles (05/2013 - 06/2005)
9.	Illa, Isabel: 11 articles (11/2020 - 01/2002)
10.	Bartoli, Marc: 10 articles (01/2021 - 02/2009)

Related Diseases

1.	Inflammation (Inflammations) 01/01/2017 - "Further, deletion of AnxA2 in dysferlin deficient mice reduced muscle inflammation, adipogenic replacement of myofibers, and improved muscle function. " 01/01/2018 - "Dysferlin facilitates sarcolemmal membrane repair in healthy myofibers, thus its deficit compromises myofiber repair and leads to chronic muscle inflammation. " 01/01/2017 - "Mice and patient lacking dysferlin exhibit chronic muscle inflammation and adipogenic replacement of the myofibers. " 03/01/2009 - "These findings suggest that the presence or absence of dysferlin does not have any consequences for the triggering or effector phase of autoimmune CNS inflammation." 03/01/2009 - "Recent observations suggested that dysferlin might play a role in the development of autoimmune central nervous system (CNS) inflammation. "
2.	Muscular Dystrophies (Muscular Dystrophy) 06/01/2013 - "By subjecting dysferlin-deficient B6.A/J-Dysf(prmd) mice to long-term swimming exercise, we observed that concentric/isometric strain improved muscle strength and alleviated muscular dystrophy by limiting the accumulation of membrane lesions. " 10/19/2007 - "Recent studies have shown that mutation or genetic disruption of myoferlin or dysferlin promotes muscular dystrophy-related phenotypes in mice, which are the result of impaired plasma membrane integrity. " 01/01/2023 - "Muscular dystrophy is observed in humans when mutations disrupt this repair process or dysferlin is absent. " 10/01/2022 - "Thermoneutral Housing and a Western Diet Combination Exacerbates Dysferlin-Deficient Muscular Dystrophy." 07/19/2021 - "Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). "
3.	Dysferlinopathy 01/01/2022 - "Dysferlin (DYSF) has drawn much attention due to its involvement in dysferlinopathy and was reported to affect monocyte functions in recent studies. " 10/01/2018 - "This dysferlin-deficient cell line should allow the study of pathophysiological pathways involved in dysferlin-deficient muscle and constitute a tool for high-throughput screening of therapeutic compounds for patients with dysferlinopathy and other muscle diseases." 01/01/2016 - "Studies in muscle tissue from dysferlinopathy patients or dysferlin-deficient mice point out its importance in membrane repair. " 10/29/2015 - "The purpose of this study was to explore the possible utility of dermal fibroblasts from dysferlin-deficient patients and SJL mice as a tool for studying dysferlinopathy. " 02/02/2012 - "Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy."
4.	Hypertrophy 07/04/2022 - "It was shown that postnatal histogenesis of skeletal muscles in genetically determined dysferlin deficiency is characterized by a higher proportion of necrotic muscle fibers, compensatory hypertrophy of muscle fibers with their subsequent atrophy, and decreases in proliferative activity and the level of myogenic differentiation of myogenic progenitor cells compared to wild-type mice (C57Bl/6)." 12/01/2015 - "To understand the primary pathogenesis and pathophysiology of dysferlin cardiomyopathy, we studied cardiac phenotypes of young adult dysferlin knockout mice and found early myocardial hypertrophy with largely compensated baseline cardiac function. " 10/01/2019 - "We conclude that increased local IGF-1 promotes functional hypertrophy when dysferlin is absent and reestablishes IGF-1 as a potential therapeutic for dysferlinopathies." 10/01/2019 - "The objective of this study was to determine whether locally increased IGF-1 promotes functional muscle hypertrophy in dysferlin-null (Dysf-/- ) mice. " 10/01/2019 - "Muscle hypertrophy occurred in response to increased IGF-1 in mice with and without dysferlin. "
5.	Necrosis 06/01/2013 - "Dysferlin deficiency-related persistence of mechanically induced sarcolemma disruptions causes myofiber damage and necrosis. " 07/01/2007 - "We have previously shown that dysferlin deficiency leads to defective membrane resealing in skeletal muscle and muscle necrosis; however, the function of dysferlin in the heart remains to be determined. " 02/01/2010 - "We conclude that dysferlin-null myofibers can survive contraction-induced injury for at least 3 days but are subsequently eliminated by necrosis and inflammation. " 02/01/2010 - "Recovery of control and dysferlin-null muscles from small-strain injury involved inflammation and necrosis followed by myogenesis, all of which were more pronounced in the dysferlin-null muscles, which recovered more slowly. " 02/01/2010 - "Recovery of dysferlin-null muscle requires myogenesis, which delays the return of contractile function compared with controls, which recover from large-strain injury by repairing damaged myofibers without significant inflammation, necrosis, or myogenesis. "

Related Drugs and Biologics

1.	Insulin-Like Growth Factor I (IGF-1)
2.	Caspase 3 (Caspase-3)
3.	Glucocorticoids
4.	Catalase
5.	gadofluorine M
6.	Proteins (Proteins, Gene)
7.	Dystrophin
8.	Sarcoglycans (beta Sarcoglycan)
9.	Calpain
10.	Glycoproteins (Glycoprotein)

Related Therapies and Procedures

1.	Therapeutics
2.	Lasers (Laser)
3.	Transplantation
4.	Denervation
5.	Ligation