Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Autosomal dominant centronuclear myopathy"'
Publikováno v:
Human Molecular Genetics. 28:4186-4196
Dynamin 2 (DNM2) encodes a ubiquitously expressed large GTPase with membrane fission capabilities that participates in the endocytosis of clathrin-coated vesicles. Heterozygous mutations in DNM2 are associated with two distinct neuromuscular disorder
Publikováno v:
FASEB Journal
FASEB Journal, Federation of American Society of Experimental Biology, 2021, 35 (4), pp.e21346. ⟨10.1096/fj.202001313rrr⟩
FASEB Journal, Federation of American Society of Experimental Biology, 2021, 35 (4), pp.e21346. ⟨10.1096/fj.202001313rrr⟩
International audience; Dynamin 2 (DNM2) is a ubiquitously expressed protein involved in many functions related to trafficking and remodeling of membranes and cytoskeleton dynamics. Mutations in the DNM2 gene cause the autosomal dominant centronuclea
Autor:
Gajardo I, Prado-Vega L, Arlek M. González-Jamett, Jorge A. Bevilacqua, Hinostroza F, Ana M. Cárdenas, Arriagada-Diaz J, Labraña-Allende M, Mattar-Araos M, Guerra-Fernández Mj, Marc Bitoun, Gómez B, Alvaro O. Ardiles
Dynamin-2 is a large GTP-ase, member of the dynamin superfamily, that regulates membrane remodeling and cytoskeleton dynamics. In the mammalian nervous system dynamin-2 modulates synaptic vesicle (SV)-recycling at the nerve terminals and receptor-tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b691ff2f13ebf6bb5838d32b2d5eb70b
https://doi.org/10.1101/2021.06.28.450172
https://doi.org/10.1101/2021.06.28.450172
Autor:
Roberto Silva-Rojas, Xènia Massana Muñoz, Christine Kretz, Julien Ochala, Norma B. Romero, Belinda S. Cowling, Jocelyn Laporte, Alexia Menuet
Publikováno v:
JCI Insight, Vol 5, Iss 18 (2020)
JCI Insight
JCI Insight
Classical dynamins are large GTPases regulating membrane and cytoskeleton dynamics, and they are linked to different pathological conditions ranging from neuromuscular diseases to encephalopathy and cancer. Dominant dynamin 2 (DNM2) mutations lead to
Autor:
Emilie Christin, Marc Bitoun, Alexandre Guiraud, Alexandre Janin, David Arnould, Nathalie Couturier, Vincent Gache, Alireza Ghasemizadeh, Carole Kretz-Remy, Norma B. Romero, Thao Mai Bui, Anne-Cécile Durieux, Laura Julien, Vladimir L. Buchman
The building block of skeletal muscle is the multinucleated muscle fiber, formed by the fusion of hundreds of mononucleated precursor cells, myoblasts. In the normal course of muscle fiber development or regeneration, myonuclei are actively positione
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd5e4e2050f75dda960db36088c34d92
https://doi.org/10.1101/2020.05.04.076208
https://doi.org/10.1101/2020.05.04.076208
Autor:
Vincent Jacquemond, Péter Szentesi, Delphine Trochet, Pascale Guicheney, Bruno Allard, Maud Beuvin, Candice Kutchukian, Marc Bitoun, László Csernoch, Yves Tourneur, Christine Berthier
Publikováno v:
The Journal of Physiology. 595:7369-7382
Key points Dynamin 2 is a ubiquitously expressed protein involved in membrane trafficking processes. Mutations in the gene encoding dynamin 2 are responsible for a congenital myopathy associated with centrally located nuclei in the muscle fibres. Usi
Autor:
Irene M. F. van Balken, Valérie Biancalana, Nicol C. Voermans, Benno Küsters, Catherine Koch, Nicolas Dondaine, Johann Böhm, Erik-Jan Kamsteeg, Jocelyn Laporte, Carlyn V Kouwenberg, Corrie E. Erasmus, Sandra H. Vos
Publikováno v:
Journal of Neuromuscular Diseases, 4, 4, pp. 349-355
Journal of Neuromuscular Diseases, 4, 349-355
Journal of Neuromuscular Diseases, 4, 349-355
Contains fulltext : 182290.pdf (Publisher’s version ) (Closed access) Autosomal dominant centronuclear myopathy (CNM) caused by mutations in the gene coding for amphiphysin-2 (BIN1) typically presents in adulthood with progressive muscle weakness.
Publikováno v:
Neurotherapeutics
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. Autosomal dominant mutations in the ubiquitously expressed DNM2 cause 2 discrete neuromus
Autor:
T. Dyong, Jörg B. Schulz, Maike F. Dohrn, Joachim Weis, Burkhard Gess, Katja Eggermann, I. Kurth
Publikováno v:
Clinical Neurophysiology. 131:e199
Publikováno v:
Neuromuscular Disorders. 29:S81