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Academic Journal

Analysis of Dysferlin Direct Interactions with Putative Repair Proteins Links Apoptotic Signaling to Ca 2+ Elevation via PDCD6 and FKBP8.

  • Authors : Drescher DG; Laboratory of Bio-otology, Department of Otolaryngology, Wayne State University School of Medicine, Detroit, MI 48201, USA.; Department of Biochemistry, Microbiology and Immunology, Wayne State University School of Medicine, Detroit, MI 48201, USA.

Subjects: Calcium*/Calcium*/Calcium*/metabolism ; Dysferlin*/Dysferlin*/Dysferlin*/metabolism ; Muscle, Skeletal*/Muscle, Skeletal*/Muscle, Skeletal*/injuries

  • Source: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 28; Vol. 24 (5). Date of Electronic Publication: 2023 Feb 28.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins.

  • Authors : Lloyd EM; Department of Anatomy, Physiology and Human Biology, School of Human Sciences, The University of Western Australia, Perth, WA 6009, Australia.; Pinniger GJ

Subjects: Calcium*/Calcium*/Calcium*/metabolism ; Dysferlin*/Dysferlin*/Dysferlin*/deficiency ; Glycogen*/Glycogen*/Glycogen*/metabolismDysferlinopathy

  • Source: International journal of molecular sciences [Int J Mol Sci] 2022 Dec 21; Vol. 24 (1). Date of Electronic Publication: 2022 Dec 21.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.

  • Authors : Poudel BH; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.

Subjects: Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/therapy ; Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/genetics ; Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/diagnosis Limb-girdle muscular dystrophy, type 2B

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 May 21; Vol. 25 (11). Date of Electronic Publication: 2024 May 21.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Blockade of Hemichannels Normalizes the Differentiation Fate of Myoblasts and Features of Skeletal Muscles from Dysferlin-Deficient Mice.

  • Authors : Cea LA; Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Santiago 8910060, Chile.; Fernández G

Subjects: Aporphines/Aporphines/Aporphines/*pharmacology ; Connexins/Connexins/Connexins/*metabolism ; Dysferlin/Dysferlin/Dysferlin/*genetics Dysferlinopathy

  • Source: International journal of molecular sciences [Int J Mol Sci] 2020 Aug 21; Vol. 21 (17). Date of Electronic Publication: 2020 Aug 21.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are Restored by Dysferlin C2 Domains.

  • Authors : Báez-Matus X; Centro Interdisciplinario de Neurociencia de Valparaíso, Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.; Figueroa-Cares C

Subjects: Actins/Actins/Actins/*metabolism ; Dysferlin/Dysferlin/Dysferlin/*chemistry ; Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/*metabolism Dysferlinopathy

  • Source: International journal of molecular sciences [Int J Mol Sci] 2019 Dec 19; Vol. 21 (1). Date of Electronic Publication: 2019 Dec 19.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

N -Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice.

  • Authors : García-Campos P; Centro Interdisciplinario de Neurociencia de Valparaíso (CNIV), Facultad de Ciencias, Universidad de Valparaíso, Valparaíso 2360102, Chile.; Centro de Investigaciones Biomédicas (CIB), Facultad de Medicina, Universidad de Valparaíso, Valparaíso 2520000, Chile.

Subjects: Acetylcysteine/Acetylcysteine/Acetylcysteine/*administration & dosage ; Antioxidants/Antioxidants/Antioxidants/*administration & dosage ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*drug effects Dysferlinopathy

  • Source: International journal of molecular sciences [Int J Mol Sci] 2020 Jun 16; Vol. 21 (12). Date of Electronic Publication: 2020 Jun 16.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Dual Adeno-Associated Virus 9 with Codon-Optimized DYSF Gene Promotes In Vivo Muscle Regeneration and May Decrease Inflammatory Response in Limb Girdle Muscular Dystrophy Type R2.

  • Authors : Yakovlev IA; Genotarget LLC, Skolkovo Innovation Center, 121205 Moscow, Russia.; PJSC Human Stem Cells Institute, 129110 Moscow, Russia.

Subjects: Dependovirus*/Dependovirus*/Dependovirus*/genetics ; Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/genetics ; Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/therapyDysferlinopathy

  • Source: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 31; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 31.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.

  • Authors : Spadafora P; Institute for Biomedical Research and Innovation, National Research Council, 87100 CS Mangone, Italy.; Qualtieri A

Subjects: Distal Myopathies* ; Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/diagnosis ; Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/Muscular Dystrophies, Limb-Girdle*/genetics Limb-girdle muscular dystrophy, type 2B

  • Source: International journal of molecular sciences [Int J Mol Sci] 2022 Aug 11; Vol. 23 (16). Date of Electronic Publication: 2022 Aug 11.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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