Results 171 to 180 of about 2,993 (188)
Myotubularin 2 Interacts With SEC23A and Negatively Regulates Autophagy at ER Exit Sites in Arabidopsis [PDF]
Qing Zhong, Qingqiu Gong, Fang Bai
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Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations
Neurology, 2005The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13.
P M, Grogan +9 more
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Myotubularin-Related (MTMR) Phospholipid Phosphatase Proteins in the Peripheral Nervous System
Molecular Neurobiology, 2007Myotubularin-related proteins (MTMRs) constitute a broad family of ubiquitously expressed phosphatases with 14 members in humans, of which eight are catalytically active phosphatases, while six are catalytically inactive. Active MTMRs possess 3-phosphatase activity toward both PtdIns3P and PtdIns(3, 5)P 2 poliphosphoinositides (PPIn), suggesting an ...
Bolis A, Zordan P, Coviello S, Bolino A
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Regulation of Sertoli Cell Myotubularin (rMTM) Expression by Germ Cells In Vitro
Journal of Andrology, 2001ABSTRACT: Recent studies have shown that rat myotubularin (rMTM), the homolog of human myotubularin, which is a putative protein tyrosine phosphatase (PTP), is expressed by Sertoli cells in the rat testis. In addition, a significant increase in its steady‐state mRNA level was detected in Sertoli cells at the time of inter‐Sertoli tight junction (TJ ...
Li, JCH, Cheng, CY, Mruk, D, Lee, WWM
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Association of SET domain and myotubularin-related proteins modulates growth control
Nature Genetics, 1998Several proteins that contribute to epigenetic mechanisms of gene regulation contain a characteristic motif of unknown function called the SET (Suvar3-9, Enhancer-of-zeste, Trithorax) domain. We have demonstrated that SET domains mediate highly conserved interactions with a specific family of proteins that display similarity with dual-specificity ...
X, Cui +5 more
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A role for myotubularins in vaccinia virus egress
Vaccinia virus (VACV) generates multiple distinct forms of infectious virus. Intracellular mature virus (IMV) particles are surrounded by a single lipid membrane and are mostly released upon lysis of the infected cell. Some IMVs are wrapped by an additional double membrane to form intracellular enveloped virus (IEV), also called wrapped virus (WV ...openaire +1 more source
In vivo functional studies of myotubularin in mouse skeletal muscle
Étude fonctionnelle in vivo de la myotubularin dans le muscle squelettique de la souris La Myotubularine (MTM1) est une 3-phosphatase à phosphoinositides (PI) mutée dans la myopathie centronucléaire liée au chromosome X (XLCNM), caractérisée par une faiblesse musculaire et un positionnement anormal des noyaux dans les fibres musculaires.openaire +1 more source
G.P.12.05 Myotubularins and the pathogenesis of centronuclear myopathies
Neuromuscular Disorders, 2009J.J. Dowling +5 more
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