Results 101 to 110 of about 2,993 (188)

Divergent Functions of the Myotubularin (MTM) Homologs AtMTM1 and AtMTM2 in \u3ci\u3eArabidopsis thaliana\u3c/i\u3e: Evolution of the Plant MTM Family [PDF]

, 2012
Myotubularin and myotubularin-related proteins are evolutionarily conserved in eukaryotes. Defects in their function result in muscular dystrophy, neuronal diseases, and leukemia in humans.
Divecha, Nullin, Avramova, Zoya, Jones, David R., Ndamukong, Ivan, Zhao, Yang, Ding, Yong, Xia, Yuannan, Riethoven, Jean-Jack   +7 more
core  

Loss of mtm-9, an inactive myotubularin, shows a reduced number of presynaptic puncta.

, 2014
(A) A mutant for the inactive myotubularin mtm-5 has a similar number of GFP::RAB-3 puncta when compared to wild-type. (B) A mutant for the inactive myotubularin mtm-9 has a reduced number of GFP::RAB-3 puncta, similar to the mtm-6 mutant.
Kerri A. Spilker (670535), Kang Shen (207100), Vivian R. Ericson (670534), Madina S. Tugizova (670536)   +3 more
core   +1 more source

Mitochondrial damage triggers the concerted degradation of negative regulators of neuronal autophagy

Nature Communications
Mutations that disrupt the clearance of damaged mitochondria via mitophagy are causative for neurological disorders including Parkinson’s. Here, we identify a Mitophagic Stress Response (MitoSR) activated by mitochondrial damage in neurons and operating ...
Bishal Basak, Erika L. F. Holzbaur
doaj   +1 more source

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

, 2013
International audienceNo effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin.
Jeffrey J. Widrick, Childers, M. K., Viola, M. G., Alan H. Beggs, O'Callaghan, M., Lawlor, M. W., Marissa G. Viola, Cynthia P. Hsu, Pierson, C. R., Meng, H., Beggs, A. H., Anna Buj-Bello, Dustin Armstrong, Hui Meng, Hsu, C. P., Michael O'Callaghan, Widrick, J. J., Robert W. Grange, Buj-Bello, A., Michael W. Lawlor, Christopher R. Pierson, Armstrong, D., Martin K. Childers, Grange, R. W.   +23 more
core   +1 more source

Protein domains and disease-causing mutations in the myotubularin, amphiphysin, and dynamin families.

, 2012
Myotubularin contains a PH-GRAM domain that may bind lipids and a coil-coiled-PDZ binding site to form homo- and hetero-dimers with other members of the myotubularin family.
Belinda S. Cowling (127783), Jean Muller (13947), Jocelyn Laporte (127789), Anne Toussaint (172930)   +3 more
core   +1 more source

ISEV2025 Abstract Book

Journal of Extracellular Vesicles, Volume 14, Issue S1, October 2025.
wiley   +1 more source

Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice

, 2016
International audienceMutations in the gene encoding the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for a pediatric disease of skeletal muscle named myotubular myopathy (XLMTM).
Vignaud, A., Tourneur, Y., Berthier, Christine, Poulard, K., Lawlor, M. W., Berthier, C., Buj-Bello, Ana, Kutchukian, C., Kutchukian, Candice, Jacquemond, V., Lo Scrudato, Mirella, Jacquemond, Vincent, Lo Scrudato, M., Tourneur, Yves, Allard, Bruno, Vignaud, Alban, Lawlor, Michael, Buj-Bello, A., Poulard, Karine, Allard, Béatrice   +19 more
core   +1 more source

The Genetic Background of Abnormalities in Metabolic Pathways of Phosphoinositides and Their Linkage with the Myotubular Myopathies, Neurodegenerative Disorders, and Carcinogenesis. [PDF]

Biomolecules, 2023
Derkaczew M, Martyniuk P, Hofman R, Rutkowski K, Osowski A, Wojtkiewicz J.   +5 more
europepmc   +1 more source

Myotubularin-related protein 6 promotes invasion of hepatocellular carcinoma cells by activating the PI3K/AKT/mTOR signaling pathway

陆军军医大学学报
Objective To explore the effect of myotubularin-related protein 6 (MTMR6) on the invasion of hepatocellular carcinoma cell line HepG2 and the potential molecular mechanism.
LIANG Xiao, CHEN Hongyu, PENG Xueqin
doaj   +1 more source

MiR-99 Family of Exosomes Targets Myotubularin-related Protein 3 to Regulate Autophagy in Trophoblast Cells and Influence Insulin Resistance

Journal of Physiological Investigation
The global incidence of gestational diabetes mellitus (GDM) continues to rise and is associated with negative outcomes in pregnancy. This study aims to investigate how the miR-99 family of exosomes derived from the placenta targets myotubularin-related ...
Shao-Xiao Liu, Yang Lv
doaj   +1 more source