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1 -specific phosphatases that include PTEN and myotubularin.
2  congenital myopathy caused by deficiency of myotubularin.
3 thy, and Sbf1, a newly isolated homologue of myotubularin.
4 used by deficiency of the lipid phosphatase, myotubularin.
5 d to introduce the p.R69C missense change in myotubularin.
6 odes the phosphoinositide lipid phosphatase, myotubularin.
7 used by deficiency of the lipid phosphatase, myotubularin.
8 used by deficiency of the lipid phosphatase, myotubularin.
9 omeric complexes with catalytically inactive myotubularins.
10 F2 belong to a family of proteins called the myotubularins.
11 phosphate (PI(4)P) catalyzed sequentially by Myotubularin 1 (MTM1) and phosphatidylinositol 4-kinase
12 most severe form, X-linked CNM, is caused by myotubularin 1 (MTM1) loss-of-function mutations, while
13 lated by its putative binding partners MTM1 (myotubularin), a phosphoinositide 3'-phosphatase, and DN
14 f1 shares extensive sequence similarity with myotubularin, a dual specificity phosphatase (dsPTPase)
15                          We report here that myotubularin, a protein tyrosine phosphatase required fo
16                                    Recently, myotubularin, a second PTP superfamily enzyme associated
17                                              Myotubularins, a large family of catalytically active an
18 e mutation is present, which provides enough myotubularin activity to account for the relatively mild
19 ne encoding the ubiquitous lipid phosphatase myotubularin, an enzyme specifically dephosphorylating p
20 mphiphysin-2 (BIN1) and its partner proteins myotubularin and dynamin-2.
21 l expression and subcellular localization of myotubularin and MTMR2 are differentially regulated, res
22  lipid phosphatase activities of recombinant myotubularin and MTMR2 demonstrates that their enzymatic
23                                 In addition, myotubularin and MTMR2 enhanced green fluorescent protei
24                To this end, we have analyzed myotubularin and MTMR2 transcripts during induced differ
25                                              Myotubularin and myotubularin-related proteins are evolu
26  dissect the functions of the MTM1 and MTMR2 myotubularins and establish how they contribute to endos
27         Complex formation between the active myotubularins and MTMR9 increases their catalytic activi
28                                              Myotubularins are a family of dual-specificity phosphata
29                                          The myotubularins are a large family of inositol polyphospha
30                         Mutations in several myotubularins are associated with human disease.
31                             Although several myotubularins are known to regulate phosphoinositide-pho
32                                              Myotubularins are phosphoinositide (PI) 3-phosphatases t
33   Interestingly, nearly half of the metazoan myotubularins are predicted to be catalytically inactive
34           Mutations in worm MTM-6 and MTM-9, myotubularins belonging to two subgroups, disorganize ph
35           We further demonstrate that direct myotubularin binding to the type III PI 3-kinase complex
36            Finally, we provide evidence that myotubularin, but not MTMR2, can modulate the levels of
37          Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM),
38 ular myopathy mouse model (knock-out for the myotubularin coding gene Mtm1) that a down-regulated myo
39              The abundance of telethonin and myotubularin decreased during HF and increased during re
40                                     Instead, myotubularin deficiency is associated with altered toler
41 ubularin-deficient muscle, but the impact of myotubularin deficiency on myogenic stem cells within mu
42  may relate to the progression of disease in myotubularin deficiency, and may also be used to develop
43 trophy can attenuate symptoms resulting from myotubularin deficiency, the effect of ActRIIB-mFC treat
44 ctively, due to differences in the degree of myotubularin deficiency.
45 ctive treatment for the weakness observed in myotubularin deficiency.
46  size would cause symptomatic improvement in myotubularin deficiency.
47 t of ActRIIB-mFC treatment was determined in myotubularin-deficient (Mtm1delta4) mice.
48 ivation and downstream survival signaling in myotubularin-deficient cells is caused by accumulation o
49 ion factors is also significantly reduced in myotubularin-deficient cells.
50 ained from severely symptomatic (Mtm1delta4) myotubularin-deficient mice.
51 type-phenotype correlation data to develop a myotubularin-deficient mouse model with a less severe ph
52 +) release is spatially heterogeneous within myotubularin-deficient muscle fibers, with focally defec
53 tructural and physiological abnormalities in myotubularin-deficient muscle, but the impact of myotubu
54  response to dehydration stress, and the two myotubularins differentially affect the Arabidopsis dehy
55 ease through siRNA-mediated depletion of the myotubularins, excess PI(3)P accumulates on early (MTM1)
56           Our findings provide evidence that myotubularin exerts its effects during myogenesis by reg
57 de evidence that siRNA-mediated silencing of myotubularin expression markedly inhibits growth factor-
58 ll serve as a model for other members of the myotubularin family and provide a framework for understa
59                  Mutations in members of the myotubularin family cause the human neuromuscular disord
60                                          The myotubularin family consists of 16 different proteins, 9
61 ivity toward this substrate is common to all myotubularin family enzymes.
62 sting that this activity is intrinsic to all myotubularin family members.
63                MTMR2 encodes a member of the myotubularin family of phosphoinositide-3-phosphatases,
64  also reveals that the GRAM domain, found in myotubularin family phosphatases and predicted to occur
65 nd implicate signaling pathways regulated by myotubularin family proteins in spermatogenesis and germ
66 e here that Sbf1, a pseudophosphatase of the myotubularin family, is expressed at high levels in semi
67 codes a large, uncharacterized member of the myotubularin family.
68                                While loss of myotubularin function causes severe disease phenotypes i
69 pendent growth/survival cues due to impaired myotubularin function may be a critical factor underlyin
70                                          The myotubularin gene, MTM1, is mutated in the genetic disor
71 g of 92% of the known coding sequence of the myotubularin gene.
72 nd proliferated in the basal metazoan group, myotubularin genes are not found in the unicellular rela
73                                              Myotubularin had a greater effect, increasing tubule len
74                     Both active and inactive myotubularins have essential functions in mammals and in
75 le structural conservation, plant and animal myotubularins have significantly diverged in their funct
76         We demonstrate an important role for myotubularin in t-tubule restoration.
77 demonstrating that PI(3)P is a substrate for myotubularin in vivo.
78         We studied a subfamily of homologous myotubularins, including myotubularin-related protein 6
79                                Both Sbf1 and myotubularin interact with the SET domains of Hrx and ot
80                            A candidate gene, myotubularin, involved in the pathogenesis of X-linked m
81                                              Myotubularin is a 3-phosphoinositide phosphatase that is
82                                              Myotubularin is the archetype of a family of highly cons
83 scles from Mtm1delta4 mice, which produce no myotubularin, is markedly impaired.
84 Saccharomyces cerevisiae strain in which the myotubularin-like gene (YJR110w) is disrupted also exhib
85                                          The myotubularin (MTM) family constitutes one of the most hi
86 MR6) is a catalytically active member of the myotubularin (MTM) family, which is composed of 14 prote
87 related protein 7 (MTMR7) is a member of the myotubularin (MTM) family.
88                The family of disease-related myotubularin (MTM) phosphoinositide phosphatases include
89                                We identified myotubularin (mtm), a Drosophila melanogaster MTM1/MTMR2
90                                              Myotubularins (MTM) are a large subfamily of lipid phosp
91  encoding the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for a pediatric dise
92 s-of-function mutations in the gene encoding myotubularin (MTM1) result in X-linked CNM (XLCNM, also
93 NM, is caused by mutations in MTM1, encoding myotubularin (MTM1), a lipid phosphatase.
94 hy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2)
95 hy (XLMTM)-associated PtdIns(3)P phosphatase myotubularin (MTM1).
96                                              Myotubularins (MTMs) belong to a large subfamily of phos
97                                              Myotubularins (MTMs) constitute a large family of lipid
98  a catalytically inactive substrate-trapping myotubularin mutant (C375S) in human 293 cells increases
99    RNAi of the dual-specificity phosphatase, Myotubularin, or the related Sbf "antiphosphatase" resul
100 ether, this study demonstrated that Ymr1p, a myotubularin phosphatase family member, functions in the
101  and provide insight into the specificity of myotubularin phosphatases toward phosphoinositide substr
102 here genes encoding both active and inactive myotubularins (phosphoinositide 3-phosphatases) have app
103                         Catalytically active myotubularins possess 3-phosphatase activity dephosphory
104                                              Myotubularin protein is undetectably low because the int
105                                              Myotubularin protein levels and localization were abnorm
106 ing findings suggest that even low levels of myotubularin protein replacement can improve the muscle
107 nts within the active, but not the inactive, myotubularins provides insight into the functional diffe
108                        We report here that a myotubularin PtdIns(3)P 3-phosphatase, myotubularin-rela
109 gs are significant because they suggest that myotubularin regulates Akt activation via a cellular poo
110 actor 2 mutation, 1 a periaxin mutation, 0 a myotubularin related protein 2 mutation, 1 a neurofilame
111 2, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regulat
112 arget pre-mRNAs, cardiac troponin T (Tnnt2), myotubularin-related 1 gene (Mtmr1) and the muscle-speci
113  caused by loss-of-function mutations in the myotubularin-related 2 (MTMR2) gene.
114 by recessively inherited mutations in either myotubularin-related 2 (MTMR2) or MTMR13 (also called SE
115 s homologous to the human MTMR6 subfamily of myotubularin-related 3-phosphatases, and therefore, we n
116 pe 4B (CMT4B) disease caused by mutations in myotubularin-related 5 (MTMR5; also called SET binding f
117 f negative regulators of autophagy including Myotubularin-related phosphatase (MTMR)5, MTMR2 and Rubi
118           Associations of down-regulation of myotubularin-related phosphatase 1 (a phosphoinositide 3
119 n-specific stability of transcripts encoding myotubularin-related phosphatase 5 (MTMR5).
120 autophagy-enhancing factors that inhibit the myotubularin-related phosphatase MTMR14/Jumpy, a negativ
121 P]-mediated signaling, the role of the yeast myotubularin-related PI(3)P phosphatase Ymr1p was invest
122 oles are played by PP1 with tyrosine PPs and Myotubularin-related PPs having significant roles in reg
123 oth the recombinant yeast enzyme and a human myotubularin-related protein (KIAA0371) are able to deph
124  concentrated on two lipid phosphatases, the myotubularin-related protein (MTMR)9 and -7.
125   These results reveal an essential role for myotubularin-related protein 10 in the protection of den
126 s-of-function mutations in the gene encoding myotubularin-related protein 2 (MTMR2) cause Charcot-Mar
127                           Alterations in the myotubularin-related protein 2 (MTMR2) gene on chromosom
128       CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13
129 B is caused by recessive mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13
130 e identified a previously undefined role for myotubularin-related protein 3 (MTMR3) in amplifying PRR
131                                              Myotubularin-related protein 6 (MTMR6) is a catalyticall
132              In contrast, mRNA expression of myotubularin-related protein 6 (MTMR6), a negative regul
133 )P] for channel activity and is inhibited by myotubularin-related protein 6 (MTMR6), a PI(3)P phospha
134 amily of homologous myotubularins, including myotubularin-related protein 6 (MTMR6), MTMR7, and MTMR8
135 n and is inhibited by the PI(3)P phosphatase myotubularin-related protein 6 (MTMR6).
136                                              Myotubularin-related protein 7 (MTMR7) is a member of th
137 eromer with an enzymatically inactive member myotubularin-related protein 9 (MTMR9), both in vitro an
138                 We demonstrate here that the myotubularin-related protein MTMR2, which is mutated in
139    We then validated the role of the encoded myotubularin-related protein, MTM-10, in protecting the
140 -exchange mass spectrometry studies of human myotubularin-related protein-2 (MTMR2) in complex with p
141 ations occurring in the gene MTMR2, encoding myotubularin-related protein-2, a dual specificity phosp
142 hat a myotubularin PtdIns(3)P 3-phosphatase, myotubularin-related protein-4 (MTMR4), regulates macrop
143 of phosphatidylinositol (PI) 3-phosphatases: myotubularin-related proteins (MTMR) 2, 3, 4, and 7.
144                                              Myotubularin-related proteins are a large subfamily of p
145                             Myotubularin and myotubularin-related proteins are evolutionarily conserv
146                                        Thus, myotubularin-related proteins have a role in controlling
147                             In contrast with myotubularin, Sbf1 lacks a functional catalytic domain w
148  p.R69C mice, which produce small amounts of myotubularin, showed impaired contractile function only
149                                              Myotubularin silencing also inhibits Akt-dependent signa
150                            Recombinant human myotubularin specifically dephosphorylates PI(3)P in vit
151                                These include myotubularin, the gene of which is mutated in a subset o
152 c regulated recruitment of the 3-phosphatase myotubularin to endosomal membranes in intact cells.
153 t mRNAs, leading to premature termination of myotubularin translation.
154                             We conclude that myotubularin-type phosphatases link SET-domain containin
155     We and others have previously shown that myotubularin utilizes the lipid second messenger, phosph
156                    Short-term replacement of myotubularin with a prototypical targeted protein replac

 
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