Search Results - "Hnia, K"
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Mass Assays to Quantify Bioactive PtdIns3P and PtdIns5P During Autophagic Responses
Published in Methods in enzymology (01-01-2017)“…Autophagy is a cellular process whereby cytoplasmic substrates are targeted for degradation in the lysosome via the membrane structures autophagosomes. This…”
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The Salih Ataxia Mutation Impairs Rubicon Endosomal Localization
Published in Cerebellum (London, England) (01-12-2013)“…We previously described a new form of recessive ataxia, Salih ataxia, in a large consanguineous Saudi Arabian family with three affected children carrying a…”
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C.P.10 Phosphatase inactive myotubularin rescues X-linked centronuclear (myotubular) myopathy phenotypes in mice
Published in Neuromuscular disorders : NMD (01-10-2012)“…Abstract The X-linked centronuclear myopathy, also called myotubular myopathy, is a muscle disorder characterized by neonatal hypotonia and abnormal organelles…”
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Effect of β-dystroglycan processing on utrophin/Dp116 anchorage in normal and mdx mouse Schwann cell membrane
Published in Neuroscience (01-01-2006)“…In the peripheral nervous system, utrophin and the short dystrophin isoform (Dp116) are co-localized at the outermost layer of the myelin sheath of nerve…”
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P1.35 Amphiphysin 2 (BIN1) and triad defects in several forms of centronuclear myopathies
Published in Neuromuscular disorders : NMD (01-10-2010)Get full text
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ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site
Published in Biochemical journal (01-02-2007)“…Dystrophin forms part of a vital link between actin cytoskeleton and extracellular matrix via the transmembrane adhesion receptor dystroglycan. Dystrophin and…”
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Bio acoustical and bio mechanical methods for mechanical study of soft tissues
Published in Journal of biomechanics (2006)Get full text
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Pathological pattern of Mdx mice diaphragm correlates with gradual expression of the short utrophin isoform Up71
Published in Biochimica et biophysica acta (01-03-2006)“…Utrophin gene is transcribed in a large mRNA of 13 kb that codes for a protein of 395 kDa. It shows amino acid identity with dystrophin of up to 73% and is…”
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