Results 1 to 10 of about 4,375 (200)

Crystal structures of the human Dysferlin inner DysF domain [PDF]

BMC Structural Biology, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Altin Sula, Christine Orengo, Nicholas H Keep   +2 more
exaly   +8 more sources

Exon Skipping in a Dysf-Missense Mutant Mouse Model [PDF]

Molecular Therapy - Nucleic Acids, 2018
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and
Helena Escobar, Andreas Marg, Michael Bader   +2 more
exaly   +7 more sources

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy [PDF]

Molecular Therapy - Nucleic Acids, 2018
Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
William J Duddy, Rika Maruyama, Toshifumi Yokota   +2 more
exaly   +5 more sources

Two homozygous adjacent novel missense mutations in DYSF gene caused dysferlinopathy due to splicing abnormalities

Frontiers in Genetics
Background: Dysferlinopathy is an autosomal recessive disorder caused by mutations in the DYSF gene. This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf ...
Lun Wang, Yan Zhou, Tiantian Wei, Hongyao Huang, Hongyao Huang   +4 more
exaly   +5 more sources

Multiple sclerosis severity variant in DYSF-ZNF638 locus associates with neuronal loss and inflammation [PDF]

iScience
Summary: The genetic variant rs10191329AA has been identified to associate with faster disability accrual in multiple sclerosis (MS). We investigated the impact of rs10191329AA carriership on MS pathology and flanking genes dysferlin (DYSF) and zinc ...
Hendrik J. Engelenburg, Aletta M.R. van den Bosch, J.Q. Alida Chen, Cheng-Chih Hsiao, Marie-José Melief, Adil Harroud, Inge Huitinga, Jörg Hamann, Joost Smolders   +8 more
doaj   +6 more sources

Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B [PDF]

Frontiers in Genetics
This case concerns a Chinese female patient who was referred to our clinic having complained of weakness in her lower limbs. Following a series of diagnostic procedures, including electrophysiology, muscle biopsy and genetic analysis, the patient was ...
Jinlan Li, Jinlan Li, Jie Zhou, Jie Zhou, Chunbo Ji, Chunbo Ji, Siqing Ma, Siqing Ma, Jianying Zhu, Jianying Zhu, Tiejun Yang, Tiejun Yang, Danyang Dong, Danyang Dong, Yang Ping   +14 more
doaj   +2 more sources

Impaired myogenesis in limb girdle muscular dystrophy type 2B [PDF]

Scientific Reports
The skeletal muscle tissue has a remarkable capacity of growth and regeneration. Fusion of myoblasts and myotubes elongation are fundamental processes in muscle development.
Lucas Santos Souza, Renata Ishiba, Antonio Fernando Ribeiro-Junior, Isabela Aquino Zogbi, Dounia Bouragba, Anne Bigot, Vincent Mouly, Mariz Vainzof   +7 more
doaj   +2 more sources

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]

Orphanet Journal of Rare Diseases
Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema, Jacob Goodwin, Teerin Liewluck, Robert Charles Bucelli, Alan Pestronk, Margherita Milone   +5 more
doaj   +2 more sources

Analysis of Exon Skipping Applicability for Dysferlinopathies [PDF]

Cells
Exon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie, Sebastian Hernandez Rodriguez, Martin Krahn, Toshifumi Yokota   +3 more
doaj   +2 more sources

Limb-girdle muscular dystrophy type 2B (LGMD2B) caused by pathogenic splice and missense variants of DYSF gene among Iranians with muscular dystrophy

Advanced Biomedical Research, 2023
Background:The phenotypic range of limb-girdle muscular dystrophies (LGMDs) varies significantly because of genetic heterogeneity ranging from very mild to severe forms.
Fatemeh Arab, Najmeh Ahangari, Hadis Malek, Mohammad Doosti, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani   +5 more
doaj   +1 more source