A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy
about
Pathogenic mechanisms in centronuclear myopathiesIn vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.Approach to the diagnosis of congenital myopathiesPhosphoinositides: tiny lipids with giant impact on cell regulationLoss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathyStructure of the catalytic phosphatase domain of MTMR8: implications for dimerization, membrane association and reversible oxidationDisrupted autophagy undermines skeletal muscle adaptation and integrityA Drosophila-centric view of protein tyrosine phosphatasesPathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusMutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathyMutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Control of autophagy initiation by phosphoinositide 3-phosphatase JumpyZebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.Phosphatidylinositol 3-phosphatase myotubularin-related protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory and autophagic pathwaysBridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.The role of PI3P phosphatases in the regulation of autophagyAutophagy in alcohol-induced multiorgan injury: mechanisms and potential therapeutic targetsDrosophila Mtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functionsMembrane traffic and muscle: lessons from human diseaseCentronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia.Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission.PtdIns5P: news and views of its appearance, disappearance and deeds.DNM2 mutations in a cohort of sporadic patients with centronuclear myopathyClinical utility gene card for: Centronuclear and myotubular myopathies.The small molecule AUTEN-99 (autophagy enhancer-99) prevents the progression of neurodegenerative symptoms.Deficiency of myotubularin-related protein 14 influences body weight, metabolism, and inflammation in an age-dependent manner.Mutations in phosphoinositide metabolizing enzymes and human disease.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Centronuclear (myotubular) myopathy.Moving and positioning the nucleus in skeletal muscle - one step at a timeDeficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca(2+) homeostasis.Murine Fig4 is dispensable for muscle development but required for muscle function.Novel excitation-contraction coupling related genes reveal aspects of muscle weakness beyond atrophy-new hopes for treatment of musculoskeletal diseases"Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular DisordersNegative regulation of autophagyEndoplasmic-reticulum calcium depletion and disease.Barfly: sculpting membranes at the Drosophila neuromuscular junction.
P2860
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P2860
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy
description
2006 nî lūn-bûn
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2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@ast
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@en
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@en-gb
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@nl
type
label
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@ast
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@en
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@en-gb
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@nl
prefLabel
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@ast
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@en
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@en-gb
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@nl
P2093
P3181
P356
P1476
A novel PtdIns3P and PtdIns(3, ...... iant in centronuclear myopathy
@en
P2093
Bernard Payrastre
Christine Kretz
Edmar Zanoteli
Holger M Rohde
Hélène Tronchère
Nancy Monroy
Nicolas Dondaine
Valérie Tosch
P304
P3181
P356
10.1093/HMG/DDL250
P407
P577
2006-11-01T00:00:00Z