1,721,074 research outputs found
TRANSCRIPTION FACTOR TBX1 OVEREXPRESSION INDUCES DOWNREGULATION OF PROTEINS INVOLVED IN RETINOIC ACID METABOLISM: A COMPARATIVE PROTEOMIC ANALYSIS
No full textTranscription factor TBX1 overexpression induces downregulation of proteins
involved in retinoic acid metabolism: a comparative proteomic analysis.
Caterino M, Ruoppolo M, Fulcoli G, Huynth T, Orrù S, Baldini A, Salvatore F.
CEINGE Biotecnologie Avanzate scarl, Napoli, Italy, Dipartimento di Biochimica e
Biotecnologie Mediche, Universita di Napoli Federico II, Napoli, Italy.
TBX1 haploinsufficiency is considered a major contributor to the
del22q11.2/DiGeorge syndrome (DGS) phenotype. We have used proteomic tools to
look at all the major proteins involved in the TBX1-mediated pathways in an
attempt to better understand the molecular interactions instrumental to its
cellular functions. We found more than 90 proteins that could be targeted by TBX1
through different mechanisms. The most interesting observation is that
overexpression of TBX1 results in down-regulation of two proteins involved in
retinoic acid metabolism
Structural characterisation of transglutaminase-catalysed protein aggregates correlated to neurodegenerative disorders.
No full textExploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet–Biedl Syndrome
No full textBardet–Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy. Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits. This study is a comprehensive analysis of the literature aiming to collect available information providing mechanistic insights into the pathogenesis of kidney disease by analyzing clinical and basic science studies focused on this issue. The analysis revealed that the syndrome is either clinically and genetically heterogenous, with 24 genes discovered to date, but with 3 genes (BBS1, BBS2, and BBS10) accounting for almost 50% of diagnoses; genotype–phenotype correlation studies showed that patients with BBS1 mutations have a less severe renal phenotype than the other 2 most common loci; in addition, truncating rather than missense mutations are more likely to cause kidney disease. However, significant intrafamilial clinical variability has been described, with no clear explanation to date. In mice kidneys, Bbs genes have relative low expression levels, in contrast with other common affected organs, like the retina; surprisingly, Bbs1 is the only locus with basal overexpression in the kidney. In vitro studies indicate that signalling pathways involved in embryonic kidney development and repair are affected in the context of BBS depletion; in mice, kidney disease does not have a full penetrance; when present, it resembles human phenotype and shows an age-dependent progression. Data on the exact contribution of local versus systemic consequences of Bbs dysfunction are scanty and further investigations are required to get firm conclusions
N-Linked glycans of proteins from mitral valves of normal pigs and pigs affected by endocardiosis
No full textN-Linked glycans of proteins from mitral valves of normal pigs and pigs affected by endocardiosis
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Proteomics identification of acylacceptor and acyldonor substrates for transglutaminase in a human intestinal epithelial cell line
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