Results 91 to 100 of about 31,110 (115)

Generation and characterization of an isogenic control line by correcting the BAG3 P209L mutation of a human induced pluripotent stem cell (hiPSC) line from a patient with myofibrillar myopathy-6

Stem Cell Research
BAG3 is a central component of the chaperone-assisted selective autophagy complex and thus important for proteostasis. This function is affected by a point mutation (p.P209L; c.626C>T) in the BAG3 gene, leading to myofibrillar myopathy-6 (MFM6 ...
Kerstin Filippi, Isabelle Riße, Luke M. Judge, Bruce R. Conklin, Bernd K. Fleischmann, Michael Hesse   +5 more
doaj   +1 more source

Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with BAG3 P209L myofibrillar myopathy-6

Stem Cell Research
Bag3 is important for protein homeostasis in mechanically stressed muscle proteins as member of the chaperone-assisted selective autophagy (CASA) complex.
Kerstin Filippi, Isabelle Riße, Luke M. Judge, Bruce R. Conklin, Bernd K. Fleischmann, Michael Hesse   +5 more
doaj   +1 more source

Generation of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6

Stem Cell Research
BAG3 plays a key role in proteostasis as a central component of the chaperone-assisted selective autophagy (CASA) complex. A point mutation (p.P209L; c.626C>T) in the BAG3 gene causes severe myofibrillar myopathy-6 (MFM6), restrictive cardiomyopathy and ...
Kerstin Filippi, Martin Wiemann, Bernd K. Fleischmann, Michael Hesse   +3 more
doaj   +1 more source

Necrotising autoimmune myopathy

, 2017
Necrotising Autoimmune Myopathy is a subacute proximal myopathy with high creatine kinase levels and biopsy findings of necrotic and regenerating fibres with minimal inflammation.
Catherine Ashton, Merrilee Needham
core   +1 more source

Correction: BAG3-related myofibrillar myopathy: focus on its cardiac involvement

Frontiers in Genetics
Elise Daire, Elena Panaioli, Cyril Gitiaux, Catherine Gardin, Victor Waldmann, Damien Bonnet, Damien Bonnet, Karim Wahbi, Karim Wahbi, Diala Khraiche   +9 more
doaj   +1 more source

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Neuromuscular Disorders, 2011
Mutations in the alpha B-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity.
Rita Barresi, Andrew Durward, S Veronica Tan   +2 more
exaly   +2 more sources

Metformin rescues muscle function in BAG3 myofibrillar myopathy models

Autophagy, 2021
Dominantde novomutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation.
Josée Lavoie, Keith E Schulze, Avnika Ashok Ruparelia   +2 more
exaly   +2 more sources

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy

International Journal of Molecular Sciences, 2023
International audienceDesmin is a class III intermediate filament protein highly expressed in cardiac, smooth and striated muscle. Autosomal dominant or recessive mutations in the desmin gene (DES) result in a variety of diseases, including ...
Corinne Metay, Boris Keren, Constantinos Papadopoulos   +2 more
exaly   +2 more sources

Expanding the phenotype of filamin-C-related myofibrillar myopathy

Clinical Neurology and Neurosurgery, 2019
We report three patients with a rare filamin C myofibrillar myopathy. They present with atypical symptoms that expand the phenotype of filaminopathy.
John Vissing, Thomas Krag, Anne-Sofie Eisum   +2 more
exaly   +2 more sources

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A novel nonsense mutation in the dimerization domain of FLNC causing mild myofibrillar myopathy

Clinical Neurology and Neurosurgery, 2022
Jin-Hong Shin, Dae-Seong Kim
exaly