Results 41 to 50 of about 2,993 (188)

Myotubularin-related phosphatase 5 is a critical determinant of autophagy in neurons [PDF]

, 2021
ABSTRACT Autophagy is a conserved, multi-step process of capturing proteolytic cargo in autophagosomes for lysosome degradation. The capacity to remove toxic proteins that accumulate in neurodegenerative disorders attests to the disease-modifying potential of the autophagy pathway.
Jason P. Chua, Karan Bedi, Michelle T. Paulsen, Mats Ljungman, Elizabeth M. H. Tank, Erin S. Kim, Jennifer M. Colón-Mercado, Michael E. Ward, Lois S. Weisman, Sami J. Barmada   +9 more
openaire   +1 more source

Myotubularin is mis-localized in IMGD muscle.

, 2013
In muscle sections from control dogs, myotubularin is predominantly expressed in type II fibers expressing SERCA1. In affected IMGD dogs, massive myotubularin accumulations formed a concentric network around the fiber center.
Nasim Vasli (418913), Ulrike Schara (418917), Thomas James Anderson (418918), Wolfram Kress (418915), Jocelyn Laporte (127789), Anne Toussaint (172930), Marie Maurer (128950), Belinda Cowling (418914), Joachim Weis (362221), Ivana Prokic (418916), Laurent Tiret (128972), Johann Böhm (196848), G. Diane Shelton (84300)   +12 more
core   +1 more source

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2 [PDF]

Human Molecular Genetics, 2006
Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both characterized by reduced nerve conduction velocities, focally folded myelin sheaths and demyelination.
Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U   +5 more
openaire   +3 more sources

From dynamic live cell imaging to 3D ultrastructure: novel integrated methods for high pressure freezing and correlative light-electron microscopy. [PDF]

PLoS ONE, 2010
BACKGROUND: In cell biology, the study of proteins and organelles requires the combination of different imaging approaches, from live recordings with light microscopy (LM) to electron microscopy (EM).
Coralie Spiegelhalter, Valérie Tosch, Didier Hentsch, Marc Koch, Pascal Kessler, Yannick Schwab, Jocelyn Laporte   +6 more
doaj   +1 more source

Characterization of the myotubularin dual specificity phosphatase gene family, from yeast to human

, 1998
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disorder due to mutations in the MTM1 gene. The corresponding protein, myotubularin, contains the consensus active site of tyrosine phosphatases (PTP) but otherwise shows no homology to ...
Blondeau, F., Tentler, B.,, Kretz, C., Mandel, J. L., Dahl, Niklas,, Buj-Bello, A., Laporte, J.   +6 more
core   +5 more sources

GRAMD4 inhibits tumour metastasis by recruiting the E3 ligase ITCH to target TAK1 for degradation in hepatocellular carcinoma

Clinical and Translational Medicine, 2021
Background Aberrant TAK1 (transforming growth factor β‐activated kinase 1) activity is known to be involved in a variety of malignancies, but the regulatory mechanisms of TAK1 remain poorly understood.
Qian yun Ge, Jin Chen, Gan xun Li, Xiao long Tan, Jia Song, Deng Ning, Jie Mo, Peng cheng Du, Qiu meng Liu, Hui fang Liang, Ze yang Ding, Xue wu Zhang, Bi xiang Zhang   +12 more
doaj   +1 more source

Population Genomic Analysis in Wild Medaka Populations: Identifying Candidate Loci for Balancing Selection

Ecology and Evolution, Volume 16, Issue 10, October 2026.
We explored genomic signatures of balancing selection and selective sweep in the northern medaka, Oryzias sakaizumii in Japan by performing whole‐genome resequencing of wild individuals. In addition, we reevaluated the population genetic structure and admixture of Oryzias latipes and O.
Shingo Fujimoto, Taijun Myosho, Hirozumi Kobayashi, Hiroaki Aoyama, Iki Murase, Bayu K. A. Sumarto, Mitsuharu Yagi, Taiga Kunishima, Masatoshi Matsunami, Ryosuke Kimura   +9 more
wiley   +1 more source

Interplay between myotubularins and Ca2+ homeostasis

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
The myotubularin family, encompassing myotubularin 1 (MTM1) and 14 myotubularin-related proteins (MTMRs), represents a conserved group of phosphatases featuring a protein tyrosine phosphatase domain. Nine members are characterized by an active phosphatase domain C(X)5R, dephosphorylating the D3 position of PtdIns(3)P and PtdIns(3,5)P2.
Ning, Dai, Jody, Groenendyk, Marek, Michalak   +2 more
openaire   +2 more sources

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2‐Related Centronuclear Myopathy Mouse Model

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile, Arnould David, Velarde Mathias, Allibert Valentine, Paret Chloé, Debelley Quentin, Kizilkilic Esra, Chambon Sidney, Girard Emmanuelle, Collin Louise, Gensel Alexandre, Castells Josiane, Pasternack Aja, Bowen Maximilien, Morel Baptiste, Hourdé Christophe, Laurent Schaeffer, Ritvos Olli, Bitoun Marc, Mounier Rémi, Freyssenet Damien   +20 more
wiley   +1 more source

The myotubularin phosphatase MTMR4 regulates sorting from early endosomes [PDF]

Journal of Cell Science, 2010
Phosphatidylinositol 3-phosphate [PtdIns(3)P] regulates endocytic trafficking and the sorting of receptors through early endosomes, including the rapid recycling of transferrin (Tfn). However, the phosphoinositide phosphatase that selectively opposes this function is unknown. The myotubularins are a family of eight catalytically active and six inactive
Naughtin, MJ, Sheffield, DA, Rahman, P, Hughes, WE, Gurung, R, Stow, JL, Nandurkar, HH, Dyson, JM, Mitchell, CA   +8 more
openaire   +5 more sources