Structural insights into the mechanism of dynamin superfamily proteins

JR Jimah, JE Hinshaw - Trends in Cell Biology, 2019 - cell.com
Dynamin superfamily proteins (DSPs) mediate membrane fission and fusion necessary for
endocytosis, organelle biogenesis and maintenance, as well as for bacterial cytokinesis …

Common pathogenic mechanisms in centronuclear and myotubular myopathies and latest treatment advances

R Gómez-Oca, BS Cowling, J Laporte - International journal of molecular …, 2021 - mdpi.com
Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle
weakness and structural defects including fiber hypotrophy and organelle mispositioning …

[HTML][HTML] Panorama of the distal myopathies

M Savarese, J Sarparanta, A Vihola, PH Jonson… - Acta …, 2020 - ncbi.nlm.nih.gov
Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle

A Franck, J Lainé, G Moulay, E Lemerle… - Molecular biology of …, 2019 - Am Soc Cell Biol
Clathrin plaques are stable features of the plasma membrane observed in several cell types.
They are abundant in muscle, where they localize at costameres that link the contractile …

[HTML][HTML] Dynamin 2 (DNM2) as cause of, and modifier for, human neuromuscular disease

M Zhao, N Maani, JJ Dowling - Neurotherapeutics, 2018 - Elsevier
Abstract Dynamin 2 (DNM2) belongs to a family of large GTPases that are well known for
mediating membrane fission by oligomerizing at the neck of membrane invaginations …

Metabolic regulation through the endosomal system

J Gilleron, JM Gerdes, A Zeigerer - Traffic, 2019 - Wiley Online Library
The endosomal system plays an essential role in cell homeostasis by controlling cellular
signaling, nutrient sensing, cell polarity and cell migration. However, its place in the …

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy

D Trochet, B Prudhon, M Beuvin, C Peccate… - EMBO Molecular …, 2018 - embopress.org
Rapid advances in allele‐specific silencing by RNA interference established a strategy of
choice to cure dominant inherited diseases by targeting mutant alleles. We used this …

Hyperglycemia impairs osteoblast cell migration and chemotaxis due to a decrease in mitochondrial biogenesis

H Pahwa, MT Khan, K Sharan - Molecular and Cellular Biochemistry, 2020 - Springer
Diabetes is associated with an increase in skeletal fragility and risk of fracture. However, the
underlying mechanism for the same is not well understood. Specifically, the results from …

Centronuclear myopathy caused by defective membrane remodelling of dynamin 2 and BIN1 variants

K Fujise, S Noguchi, T Takeda - International journal of molecular …, 2022 - mdpi.com
Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised
nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation …

[HTML][HTML] Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin

T Ali, J Bednarska, S Vassilopoulos, M Tran… - The FASEB …, 2019 - ncbi.nlm.nih.gov
Abstract Dynamin 2 (DNM2) is a GTP-binding protein that controls endocytic vesicle scission
and defines a whole class of dynamin-dependent endocytosis, including clathrin-mediated …