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Structural investigation of Rett-inducing MeCP2 mutations

Genes & Diseases 2019年第1期6卷 31-34页

作者： Ottavia Spiga Simone Gardini Nicole Rossi Vittoria Cicaloni francesco pettini Neri Niccolai Annalisa Santucci Department of Biotechnology Chemistry and PharmacyUniversity of SienaSiena53100Italy GenomeUp SRL Rome00199Italy Toscana Life Sciences Foundation(TLS) Siena 53100Italy

X-ray structure of methyl-CpG binding domain(MBD)of MeCP2,an intrinsically disordered protein(IDP)involved in Rett syndrome,offers a rational basis for defining the spatial distribution for most of the sites where mutations responsible of Rett syndrome,RTT,*** have ascribed pathogenicity for mutations of amino acids bearing positively charged side chains,all located at the protein-DNA interface,as positive charge removal cause reduction of the MeCP2-DNA adduct *** of the frequent proline replacements,outside the DNA contact moiety of MBD,can be attributed to the role of this amino acid for maintaining both unfolded states for unbound MeCP2 and,at the same time,to favor some higher conformational order for stabilizing structural determinants required by protein *** hypotheses can be extended to transcription repressor domain,TRD,the other MeCP2-DNA interaction site and,in general,to all the IDP that interact with nucleic acids.

关键词： DNA binding domains MeCP2 Mutation distribution Protein structure Rett syndrome

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Clinical Evaluation and Orodental Status in a Group of Elderly Institutionalised Patients

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Advances in Aging Research 2014年第3期3卷 199-207页

作者： Massimo Corsalini Daniela Di Venere Gianluca Stefanachi Silvio Tafuri francesco pettini Department of Biomedical Sciences and Human Oncology University of Bari Bari Italy Department of Odontostomatology and Surgery University of Bari Bari Italy

10% of elderly patients are functionally dependents and they therefore need permanent assistance. Orodental alterations may evolve into a pathological state in elderly people, which is increasing in the recent decades. The current study analysed institutionalized patients in the district of Bari (Southern Italy), who have been so far monitored. We assessed 125 elderly institutionalized patients. The assessment has been carried out by an assessment questionnaire aiming at evaluating the patient’s psychophysical health status, objective intraoral test and prosthetic rehabilitations. About 90% of enrolled patients reported a good general health status. The main dental problems are due to the complete lack of specific prevention and treatment programs, together with handicap, presence of systemic diseases and medicines taken. The level of oral hygiene is poor and the conditions of the residual dental elements are precarious because of root caries and periodontal problems. Prostheses are usually old (on average 15) and appear scarcely retentive and unstable. We believe in the need for specific interventions aiming at the various issues emerging from the present study, so as to achieve a smaller prevalence of dental loss, periodontal disease and caries. These relatively simple interventions are now lacking because of the non-demand of treatment from patients and for economical reasons.

关键词： Institutionalised Hospital Care Oral Health Oral Cleanliness Treatment Needs

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