PLoS Genetics, 2009 Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current ...
James J Dowling +6 more
doaj +2 more sources
A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female. [PDF]
Mol Genet Genomic MedA 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Chen L, Bao Y, Liu G.
europepmc +2 more sources
A phylogenetic survey of myotubularin genes of eukaryotes: distribution, protein structure, evolution, and gene expression [PDF]
BMC Evolutionary Biology, 2010 Background Phosphorylated phosphatidylinositol (PtdIns) lipids, produced and modified by PtdIns kinases and phosphatases, are critical to the regulation of diverse cellular functions.
Moorhead Greg BG, Kerk David
doaj +2 more sources
The SD1 locus affects primary seed dormancy in winter malting barley. [PDF]
Plant GenomeAbstract Preharvest sprouting (PHS) resistance and seed dormancy are key targets for malting barley (Hordeum vulgare L.) in environments with a high probability of rain events at harvest. Characterization has been limited in winter malting barley compared to spring malting barley in the United States.
Kunze KH +3 more
europepmc +2 more sources
Diagnosis of X‐linked myotubular myopathy by detection of myotubularin
Annals of Neurology, 2001 Mutations in the MTM1 gene cause X-linked recessive myotubular myopathy (XLMTM; MIM310400). Myotubularin, the implicated protein, is a phosphoinositide phosphatase that belongs to a large protein family conserved through evolution that also includes the ...
Mandel, Jean-Louis +5 more
core +3 more sources
An effector of phosphatidylinositol 3-kinase activity promotes Rickettsia rickettsii virulence by enhancing autophagy [PDF]
mBioTo establish an intracellular niche conductive to growth, some bacterial pathogens deliver virulence factors that modulate phosphoinositides (PIPs) metabolism.
Dan Huang +5 more
doaj +2 more sources
Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene [PDF]
Stem Cell ResearchMyotubularin-Related Protein 5 (MTMR5) is an inactive, poorly characterized D3-phosphatidylinositol phosphatase. Mutations in MTMR5 have been linked to Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3), a rare, early-onset, recessive peripheral neuropathy ...
Elizabeth H. Jacobs +7 more
doaj +2 more sources
OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]
Eur J Clin InvestThis systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
du Preez MJ +4 more
europepmc +2 more sources
The myotubularin family of lipid phosphatases in disease and in spermatogenesis [PDF]
Biochemical Journal, 2010 The MTM (myotubularin)/MTMR (myotubularin-related) protein family is comprised of 15 lipid phosphatases, of which nine members are catalytically active.
Cheng, C. Yan +3 more
core +3 more sources
Set binding factor 1 (SBF1/MTMR5) as a potential novel target in colorectal cancer: an exploratory immunohistochemical and bioinformatics study [PDF]
Brazilian Journal of Medical and Biological ResearchColorectal cancer (CRC) is a major cause of cancer-related morbidity and mortality worldwide, and dysregulation of phosphoinositides signaling pathways plays a critical role in its pathogenesis.
A. Alatawi +7 more
doaj +2 more sources