The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Córdoba, Argentina. In Biochim Biophys Acta, Oct 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; and 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, Oct 2015
Some of them such as CLN1 (palmitoyl protein thioesterase 1), CLN2 (tripeptidyl-peptidase 1), CLN5, CLN10 (cathepsin D), and CLN13 (cathepsin F), are lysosomal soluble proteins; others like CLN3, CLN7, and CLN12, have been proposed to be lysosomal transmembrane proteins.
Genetics of the neuronal ceroid lipofuscinoses (Batten disease).
London, United Kingdom. In Biochim Biophys Acta, Oct 2015
These genes encode lysosomal enzymes (CLN1, CLN2, CLN10, CLN13), a soluble lysosomal protein (CLN5), a protein in the secretory pathway (CLN11), two cytoplasmic proteins that also peripherally associate with membranes (CLN4, CLN14), and many transmembrane proteins with different subcellular locations (CLN3, CLN6, CLN7, CLN8, CLN12).
Shelterin proteins and cancer.
Vellore, India. In Asian Pac J Cancer Prev, 2014
It comprises six proteins, namely TRF1, TRF2, TIN2, POT1, TPP1 and RAP1.
Multiple facets of TPP1 in telomere maintenance.
Cleveland, United States. In Biochim Biophys Acta, 2014
Of the primary telomere end-binding proteins, TPP1 has recently emerged as a primary contributor in protecting telomere DNA and in recruiting telomerase to the telomere ends.
Finding the end: recruitment of telomerase to telomeres.
Boulder, United States. In Nat Rev Mol Cell Biol, 2013
Recent work has provided insights into the mechanisms of telomerase recruitment to telomeres, highlighting the contribution of telomere-associated proteins, including TPP1 in humans, Ccq1 in Schizosaccharomyces pombe and Cdc13 and Ku70-Ku80 in Saccharomyces cerevisiae.
The human CST complex is a terminator of telomerase activity.
Lausanne, Switzerland. In Nature, 2012
As shown in cancer cells, human telomerase binds the shelterin component TPP1 at telomeres during the S phase of the cell cycle, and adds ~60 nucleotides in a single round of extension, after which telomerase is turned off by unknown mechanisms.
TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends.
Stanford, United States. In Cell, 2012
Study shows that the OB-fold domain of the telomere-binding protein TPP1 recruits telomerase to telomeres through an association with the telomerase reverse transcriptase TERT; data define a potential interface for telomerase-TPP1 interaction required for telomere maintenance and implicate defective telomerase recruitment in telomerase-related disease.