Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.K240del1
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DES

NM_001927.4:p.K240del1

Associated Papers

Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria.

Berwanger C et al.

European Journal of Cell Biology, 2024

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Brodehl A et al.

Biophysical Reviews, 2018

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.

Winter L et al.

Acta Neuropathologica, 2016

Desmin in muscle and associated diseases: beyond the structural function.

Hnia K et al.

Cell and Tissue Research, 2015

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.

Brodehl A et al.

Circulation. Cardiovascular Genetics, 2013

Desminopathies: pathology and mechanisms.

Clemen CS et al.

Acta Neuropathologica, 2013

Desmin-related myopathy.

van Spaendonck-Zwarts KY et al.

Clinical Genetics, 2011

Myofibrillar myopathies.

Selcen D

Current Opinion in Neurology, 2008

Primary desminopathies.

Schröder R et al.

Journal of Cellular and Molecular Medicine, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."