Results 171 to 180 of about 2,993 (188)

Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations

Neurology, 2005
The 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
openaire   +2 more sources

Myotubularin-Related (MTMR) Phospholipid Phosphatase Proteins in the Peripheral Nervous System

Molecular Neurobiology, 2007
Myotubularin-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
openaire   +3 more sources

Regulation of Sertoli Cell Myotubularin (rMTM) Expression by Germ Cells In Vitro

Journal of Andrology, 2001
ABSTRACT: 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
openaire   +4 more sources

Association of SET domain and myotubularin-related proteins modulates growth control

Nature Genetics, 1998
Several 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
openaire   +2 more sources

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, 2009
J.J. Dowling   +5 more
openaire   +1 more source

Myotubularin-related protein 2

Targeted Protein Database, 2008
openaire   +1 more source

Home - About - Disclaimer - Privacy