The Neuronal Ceroid Lipofuscinoses Program: A Translational Research Experience in Argentina.
Córdoba, Argentina. In Biochim Biophys Acta, 11 Jun 2015
Phenotypic studies comprised epileptic seizures and movement disorders, ophthalmology, neurophysiology, image analysis, rating scales, enzyme testing, and electron microscopy, carried out under a consensus algorithm; 2) DNA screening and validation of mutations in genes PPT1 (CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, MFSD8 (CLN7), and CLN8: characterization of variant types, novel/known mutations and polymorphisms; 3) Progress of the epidemiological picture in Latin America; 4) NCL-like pathology studies in progress.
Cell biology of the NCL proteins: What they do and don't do.
Sioux Falls, United States. In Biochim Biophys Acta, 08 Jun 2015
NCL-associated proteins have been localized mostly in lysosomes (CLN1, CLN2, CLN3, CLN5, CLN7, CLN10, CLN12 and CLN13) but also in the Endoplasmic Reticulum (CLN6 and CLN8), or in the cytosol associated to vesicular membranes (CLN4 and CLN14).
Experimental Therapies in the Neuronal Ceroid Lipofuscinoses.
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Dunedin, New Zealand. In Biochim Biophys Acta, 06 Jun 2015
This review focuses on current and potentially ground-breaking clinical trials, including small molecule, enzyme replacement, stem cell, and gene therapies, in the development of effective treatments for the various NCL subtypes.
Insulin-like growth factor-I inhibits transcriptional responses of transforming growth factor-beta by phosphatidylinositol 3-kinase/Akt-dependent suppression of the activation of Smad3 but not Smad2.
In PLoS ONE, 2002
... P-PKC-zeta (Abcam, ab76129), Syntaxin 4 (Abcam, ab57841), Vamp2 (Abcam, ab3347), Vimentin (Santacruz, sc73259, Actin (Santacruz, sc-1615), Nucleolin (Santacruz, sc13057), Lamin A (Santacruz, sc-20680), MEF2C (Abcam, ab65252), HDAC4 (Cell Signaling, ...