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Search results 101 to 200 out of 239 for Dysf

0.053s
Type Details Score
Publication
First Author: Chiu YH
Year: 2009
Journal: Hum Mol Genet
Title: Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.
Volume: 18
Issue: 11
Pages: 1976-89
Publication  
First Author: White Z
Year: 2021
Journal: Front Physiol
Title: Effect of Dysferlin Deficiency on Atherosclerosis and Plasma Lipoprotein Composition Under Normal and Hyperlipidemic Conditions.
Volume: 12
Pages: 675322
Publication
First Author: McDade JR
Year: 2021
Journal: FEBS J
Title: Sarcolemma wounding activates dynamin-dependent endocytosis in striated muscle.
Volume: 288
Issue: 1
Pages: 160-174
Publication
First Author: Hogarth MW
Year: 2019
Journal: Nat Commun
Title: Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B.
Volume: 10
Issue: 1
Pages: 2430
Publication
First Author: Farini A
Year: 2012
Journal: Exp Cell Res
Title: Absence of T and B lymphocytes modulates dystrophic features in dysferlin deficient animal model.
Volume: 318
Issue: 10
Pages: 1160-74
Publication  
First Author: Díaz-Manera J
Year: 2010
Journal: Cell Death Dis
Title: Partial dysferlin reconstitution by adult murine mesoangioblasts is sufficient for full functional recovery in a murine model of dysferlinopathy.
Volume: 1
Pages: e61
Publication
First Author: Demonbreun AR
Year: 2011
Journal: Hum Mol Genet
Title: Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy.
Volume: 20
Issue: 4
Pages: 779-89
Publication  
First Author: Kombairaju P
Year: 2014
Journal: Front Physiol
Title: Genetic silencing of Nrf2 enhances X-ROS in dysferlin-deficient muscle.
Volume: 5
Pages: 57
Publication
First Author: Defour A
Year: 2017
Journal: Hum Mol Genet
Title: Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle.
Volume: 26
Issue: 11
Pages: 1979-1991
Publication
First Author: Urao N
Year: 2016
Journal: Neuromuscul Disord
Title: Thrombospondin-1 levels correlate with macrophage activity and disease progression in dysferlin deficient mice.
Volume: 26
Issue: 3
Pages: 240-51
Publication
First Author: Di Fulvio S
Year: 2011
Journal: PLoS One
Title: Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation.
Volume: 6
Issue: 12
Pages: e28563
Publication
First Author: Barton ER
Year: 2019
Journal: Muscle Nerve
Title: Functional muscle hypertrophy by increased insulin-like growth factor 1 does not require dysferlin.
Volume: 60
Issue: 4
Pages: 464-473
Publication
First Author: Cai C
Year: 2009
Journal: J Biol Chem
Title: Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
Volume: 284
Issue: 23
Pages: 15894-902
Publication
First Author: Han R
Year: 2010
Journal: J Clin Invest
Title: Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice.
Volume: 120
Issue: 12
Pages: 4366-74
Publication  
First Author: Quattrocelli M
Year: 2019
Journal: JCI Insight
Title: Pulsed glucocorticoids enhance dystrophic muscle performance through epigenetic-metabolic reprogramming.
Volume: 4
Issue: 24
Publication
First Author: Kubozono K
Year: 2020
Journal: Biochem Biophys Res Commun
Title: Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRα.
Volume: 529
Issue: 3
Pages: 720-725
Publication  
First Author: Ma J
Year: 2017
Journal: Mol Ther Methods Clin Dev
Title: DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.
Volume: 7
Pages: 123-131
Publication
First Author: Barzilai-Tutsch H
Year: 2018
Journal: Hum Mol Genet
Title: A promotive effect for halofuginone on membrane repair and synaptotagmin-7 levels in muscle cells of dysferlin-null mice.
Volume: 27
Issue: 16
Pages: 2817-2829
Publication
First Author: Rawat R
Year: 2010
Journal: Am J Pathol
Title: Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle.
Volume: 176
Issue: 6
Pages: 2891-900
Publication
First Author: Nagaraju K
Year: 2008
Journal: Am J Pathol
Title: Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.
Volume: 172
Issue: 3
Pages: 774-85
Publication
First Author: Kanagawa M
Year: 2014
Journal: PLoS One
Title: Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy.
Volume: 9
Issue: 9
Pages: e106721
Publication  
First Author: Guha TK
Year: 2019
Journal: Mol Ther Methods Clin Dev
Title: Plasmid-Mediated Gene Therapy in Mouse Models of Limb Girdle Muscular Dystrophy.
Volume: 15
Pages: 294-304
Publication
First Author: Lin P
Year: 2012
Journal: FASEB J
Title: Nonmuscle myosin IIA facilitates vesicle trafficking for MG53-mediated cell membrane repair.
Volume: 26
Issue: 5
Pages: 1875-83
Publication
First Author: Lennon NJ
Year: 2003
Journal: J Biol Chem
Title: Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing.
Volume: 278
Issue: 50
Pages: 50466-73
Publication
First Author: Sher RB
Year: 2006
Journal: J Biol Chem
Title: A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.
Volume: 281
Issue: 8
Pages: 4938-48
Publication
First Author: Kim M
Year: 2020
Journal: Nat Commun
Title: Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells.
Volume: 11
Issue: 1
Pages: 6375
Publication
First Author: Barnabei MS
Year: 2012
Journal: PLoS One
Title: Ex vivo stretch reveals altered mechanical properties of isolated dystrophin-deficient hearts.
Volume: 7
Issue: 3
Pages: e32880
Publication  
First Author: Winter L
Year: 2022
Journal: Life Sci Alliance
Title: Proteins implicated in muscular dystrophy and cancer are functional constituents of the centrosome.
Volume: 5
Issue: 11
Publication  
First Author: Lostal W
Year: 2019
Journal: Sci Transl Med
Title: Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.
Volume: 11
Issue: 520
Publication
First Author: Burzyn D
Year: 2013
Journal: Cell
Title: A special population of regulatory T cells potentiates muscle repair.
Volume: 155
Issue: 6
Pages: 1282-95
Publication
First Author: Spector I
Year: 2013
Journal: Am J Pathol
Title: The involvement of collagen triple helix repeat containing 1 in muscular dystrophies.
Volume: 182
Issue: 3
Pages: 905-16
Publication
First Author: Pines M
Year: 2017
Journal: Am J Pathol
Title: Elevated Expression of Moesin in Muscular Dystrophies.
Volume: 187
Issue: 3
Pages: 654-664
Publication
First Author: Sharma A
Year: 2010
Journal: Arterioscler Thromb Vasc Biol
Title: A new role for the muscle repair protein dysferlin in endothelial cell adhesion and angiogenesis.
Volume: 30
Issue: 11
Pages: 2196-204
Publication
First Author: Matsuda C
Year: 2008
Journal: FEBS Lett
Title: Affixin activates Rac1 via betaPIX in C2C12 myoblast.
Volume: 582
Issue: 8
Pages: 1189-96
Publication
First Author: Beedle AM
Year: 2007
Journal: J Biol Chem
Title: Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex.
Volume: 282
Issue: 23
Pages: 16713-7
Publication
First Author: Cowling BS
Year: 2017
Journal: J Clin Invest
Title: Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.
Volume: 127
Issue: 12
Pages: 4477-4487
Publication
First Author: Turk R
Year: 2006
Journal: FASEB J
Title: Common pathological mechanisms in mouse models for muscular dystrophies.
Volume: 20
Issue: 1
Pages: 127-9
Publication
First Author: Rouillon J
Year: 2015
Journal: Hum Mol Genet
Title: Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.
Volume: 24
Issue: 17
Pages: 4916-32
Publication
First Author: Burr AR
Year: 2014
Journal: Mol Cell Biol
Title: Na+ dysregulation coupled with Ca2+ entry through NCX1 promotes muscular dystrophy in mice.
Volume: 34
Issue: 11
Pages: 1991-2002
Publication
First Author: Zhang Y
Year: 2008
Journal: PLoS Genet
Title: Genome-wide assessments reveal extremely high levels of polymorphism of two active families of mouse endogenous retroviral elements.
Volume: 4
Issue: 2
Pages: e1000007
Publication
First Author: Laure L
Year: 2009
Journal: FEBS J
Title: Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling.
Volume: 276
Issue: 3
Pages: 669-84
Publication
First Author: Kravtsova VV
Year: 2020
Journal: Am J Physiol Cell Physiol
Title: Isoform-specific Na,K-ATPase and membrane cholesterol remodeling in motor endplates in distinct mouse models of myodystrophy.
Volume: 318
Issue: 5
Pages: C1030-C1041
Publication
First Author: Shaw CA
Year: 2006
Journal: Am J Pathol
Title: Simultaneous dystrophin and dysferlin deficiencies associated with high-level expression of the coxsackie and adenovirus receptor in transgenic mice.
Volume: 169
Issue: 6
Pages: 2148-60
Publication
First Author: Heydemann A
Year: 2007
Journal: Biochim Biophys Acta
Title: Genetic modifiers of muscular dystrophy: implications for therapy.
Volume: 1772
Issue: 2
Pages: 216-28
Publication
First Author: Azakir BA
Year: 2010
Journal: PLoS One
Title: Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle.
Volume: 5
Issue: 4
Pages: e10122
Publication
First Author: Concepcion D
Year: 2009
Journal: PLoS Genet
Title: Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing.
Volume: 5
Issue: 5
Pages: e1000484
Publication
First Author: Reynolds JO
Year: 2013
Journal: Cardiovasc Res
Title: Junctophilin-2 is necessary for T-tubule maturation during mouse heart development.
Volume: 100
Issue: 1
Pages: 44-53
Publication
First Author: Tran V
Year: 2022
Journal: Nat Commun
Title: Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration.
Volume: 13
Issue: 1
Pages: 7077
Publication  
First Author: Sharma P
Year: 2015
Journal: Nat Commun
Title: Evolutionarily conserved intercalated disc protein Tmem65 regulates cardiac conduction and connexin 43 function.
Volume: 6
Pages: 8391
Publication      
First Author: Prokic I
Year: 2020
Journal: Dis Model Mech
Title: Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration.
Publication  
First Author: Bhattacharyya S
Year: 2016
Journal: Sci Rep
Title: Endocytic recycling protein EHD1 regulates primary cilia morphogenesis and SHH signaling during neural tube development.
Volume: 6
Pages: 20727
Publication
First Author: Karatsai O
Year: 2023
Journal: Biochim Biophys Acta Mol Basis Dis
Title: Unconventional myosin VI in the heart: Involvement in cardiac dysfunction progressing with age.
Volume: 1869
Issue: 6
Pages: 166748
Publication      
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
Publication
First Author: Cobellis G
Year: 2005
Journal: Nucleic Acids Res
Title: Tagging genes with cassette-exchange sites.
Volume: 33
Issue: 4
Pages: e44
Publication      
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: RIKEN Data Curation in Mouse Genome Informatics
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2010
Journal: MGI Direct Data Submission
Title: Alleles produced for the EUCOMM and EUCOMMTools projects by the Wellcome Trust Sanger Institute
Publication
First Author: Hansen GM
Year: 2008
Journal: Genome Res
Title: Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Volume: 18
Issue: 10
Pages: 1670-9
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Rat to Mouse ISO GO annotation transfer
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2000
Title: Gene Ontology Annotation by electronic association of SwissProt Keywords with GO terms
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Title: Human to Mouse ISO GO annotation transfer
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication
First Author: Gaudet P
Year: 2011
Journal: Brief Bioinform
Title: Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium.
Volume: 12
Issue: 5
Pages: 449-62
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Allele
Name: dysferlin; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
DO Term
Allele
Name: transgene insertion 3, Kevin P Campbell
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
Strain
Attribute String: mutant strain, transgenic, congenic
Publication      
First Author: Campbell K
Year: 2011
Journal: MGI Direct Data Submission
Title: Direct Data Submission 2010/12/22
Protein
Organism: Mus musculus/domesticus
Length: 140  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 67  
Fragment?: true
Protein Domain
Type: Family
Description: Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].
Protein
Organism: Mus musculus/domesticus
Length: 186  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 300  
Fragment?: true
Protein Domain
Type: Domain
Description: Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the second C2 repeat of ferlins, C2B, which has a type-II topology.
Protein Domain
Type: Domain
Description: Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the third C2 repeat of ferlins, C2C, and has a type-II topology.
Protein Domain
Type: Domain
Description: Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the fourth C2 repeat of ferlins, C2D, which has a type-II topology.
Protein Domain
Type: Domain
Description: Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the fifth C2 repeat of ferlins, C2E, which has a type-II topology.
Protein Domain
Type: Domain
Description: Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the sixth C2 repeat of ferlins, C2E, which has a type-II topology.