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MTMR2 gene
Known as:
phosphatidylinositol-3-phosphatase
, MYOTUBULARIN-RELATED PROTEIN 2
, KIAA1073
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National Institutes of Health
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Related topics
Related topics
1 relation
phosphatidylinositol-3-phosphatase
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice
N. Daniele
,
C. Moal
,
+6 authors
A. Buj-Bello
Journal of Neuropathology and Experimental…
2018
Corpus ID: 4045279
X-linked myotubular myopathy (XLMTM) is a severe congenital disorder in male infants that leads to generalized skeletal muscle…
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2017
2017
P.251 Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy
Matthieu A. Raess
,
B. Cowling
,
+8 authors
J. Laporte
Neuromuscular Disorders
2017
Corpus ID: 3518904
Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through…
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Review
2017
Review
2017
Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature
A. Zambon
,
M. N. Natali Sora
,
+5 authors
A. Bolino
Neuromuscular Disorders
2017
Corpus ID: 3499033
2013
2013
Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes
N. Franklin
,
C. Bonham
,
Besa Xhabija
,
Panayiotis O. Vacratsis
Journal of Cell Science
2013
Corpus ID: 36249266
Summary Myotubularin-related 2 (MTMR2) is a 3-phosphoinositide lipid phosphatase with specificity towards the D-3 position of…
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Highly Cited
2011
Highly Cited
2011
Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies
I. Vaccari
,
G. Dina
,
+9 authors
A. Bolino
PLoS Genetics
2011
Corpus ID: 6243460
We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin…
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Highly Cited
2010
Highly Cited
2010
Alkylation of the Tumor Suppressor PTEN Activates Akt and β-Catenin Signaling: A Mechanism Linking Inflammation and Oxidative Stress with Cancer
T. Covey
,
K. Edes
,
G. Coombs
,
D. Virshup
,
F. Fitzpatrick
PLoS ONE
2010
Corpus ID: 4632572
PTEN, a phosphoinositide-3-phosphatase, serves dual roles as a tumor suppressor and regulator of cellular anabolic/catabolic…
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2010
2010
The Phosphoinositide 3-Phosphatase MTMR2 Interacts with PSD-95 and Maintains Excitatory Synapses by Modulating Endosomal Traffic
Hyun Woo Lee
,
Youngrim Kim
,
Kihoon Han
,
Hyun Kim
,
Eunjoon Kim
Journal of Neuroscience
2010
Corpus ID: 15964049
MTMR2 is a 3-phosphatase specific for the phosphoinositides PI(3)P and PI(3,5)P2, which are mainly present on endosomes…
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2006
2006
Insulin-like growth factor-1 and PTEN deletion enhance cardiac L-type Ca2+ currents via increased PI3Kalpha/PKB signaling.
Hui Sun
,
B. Kerfant
,
+4 authors
P. Backx
Circulation Research
2006
Corpus ID: 11014411
Ca2+ influx through the L-type Ca2+ channel (I(Ca,L)) is a key determinant of cardiac contractility and is modulated by multiple…
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2006
2006
Specificity of the Myotubularin Family of Phosphatidylinositol-3-phosphatase Is Determined by the PH/GRAM Domain*
P. Choudhury
,
S. Srivastava
,
+6 authors
E. Skolnik
Journal of Biological Chemistry
2006
Corpus ID: 20737974
Myotubularins (MTM) are a large subfamily of lipid phosphatases that specifically dephosphorylate at the D3 position of…
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Highly Cited
2005
Highly Cited
2005
The Phosphoinositide-3-phosphatase MTMR2 Associates with MTMR13, a Membrane-associated Pseudophosphatase Also Mutated in Type 4B Charcot-Marie-Tooth Disease*
Fred L Robinson
,
J. Dixon
Journal of Biological Chemistry
2005
Corpus ID: 30162827
Charcot-Marie-Tooth disease type 4B (CMT4B) is a severe, demyelinating peripheral neuropathy characterized by distinctive…
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