Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation
Y Hovhannisyan, Z Li, D Callon, R Suspène… - Stem Cell Research & …, 2024 - Springer
Background Beyond the observed alterations in cellular structure and mitochondria, the
mechanisms linking rare genetic mutations to the development of heart failure in patients …
mechanisms linking rare genetic mutations to the development of heart failure in patients …
Unraveling Desmin's Head Domain Structure and Function
D Vlachakis, K Tsilafakis, I Kostavasili, S Kossida… - Cells, 2024 - mdpi.com
Understanding the structure and function of intermediate filaments (IFs) is necessary in order
to explain why more than 70 related IF genes have evolved in vertebrates while maintaining …
to explain why more than 70 related IF genes have evolved in vertebrates while maintaining …
Unique Role of Vimentin in the Intermediate Filament Proteins Family
IB Alieva, AS Shakhov, AA Dayal, AS Churkina… - Biochemistry …, 2024 - Springer
Intermediate filaments (IFs), being traditionally the least studied component of the
cytoskeleton, have begun to receive more attention in recent years. IFs are found in different …
cytoskeleton, have begun to receive more attention in recent years. IFs are found in different …
Colonocyte keratins stabilize mitochondria and contribute to mitochondrial energy metabolism
JH Nyström, TRH Heikkilä, K Thapa… - American Journal …, 2024 - journals.physiology.org
Keratin intermediate filaments form dynamic filamentous networks, which provide
mechanical stability, scaffolding and protection against stress to epithelial cells. Keratins and …
mechanical stability, scaffolding and protection against stress to epithelial cells. Keratins and …
[HTML][HTML] Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria
C Berwanger, D Terres, D Pesta, B Eggers… - European Journal of …, 2024 - Elsevier
Desmin gene mutations cause myopathies and cardiomyopathies. Our previously
characterised R349P desminopathy mice, which carry the ortholog of the common human …
characterised R349P desminopathy mice, which carry the ortholog of the common human …
Skeletal Muscle Mitochondrial Morphology Negatively Affected in Mice Lacking Xin
G Martin, D Al-Sajee, M Gingrich… - … and Cell Biology, 2024 - cdnsciencepub.com
Altered mitochondrial structure and function are implicated in the functional decline of
skeletal muscle. Numerous cytoskeletal proteins are known to affect mitochondrial …
skeletal muscle. Numerous cytoskeletal proteins are known to affect mitochondrial …
X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver Samples
K Inoue, T Kato, E Terasaki, M Ishihara, T Fujii… - …, 2024 - thieme-connect.com
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy that commonly
manifests with liver involvement. In most XLMTM cases, disease-causing variants have been …
manifests with liver involvement. In most XLMTM cases, disease-causing variants have been …
The Negative Effects of Statin Drugs on Cardiomyocytes: Current Review of Laboratory and Experimental Data (Mini-Review)
AM Chaulin - … & Hematological Agents in Medicinal Chemistry …, 2024 - ingentaconnect.com
Statin drugs have long been used as a key component of lipid-lowering therapy, which is
necessary for the prevention and treatment of atherosclerosis and cardiovascular diseases …
necessary for the prevention and treatment of atherosclerosis and cardiovascular diseases …
High-content imaging and proteostasis deregulation study in dilated cardiomyopathy associated with myofibrillar myopathy due to a desmin mutation (DES E439K)
V Batoumeni - 2024 - theses.hal.science
Myofibrillar myopathies linked to desmin, also known as desminopathies, are rare genetic
diseases caused by mutations in the DES gene primarily characterized by the progressive …
diseases caused by mutations in the DES gene primarily characterized by the progressive …