Nestor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation

Background: Premature aging syndromes recapitulate many aspects of natural aging and provide an insight into this phenomenon at a molecular and cellular level. The progeria syndromes appear to cause rapid aging through disruption of normal nuclear structure. Recently, a coding mutation (c.34G > A [p.A12T]) in the Barrier to Autointegration Factor 1 (BANF1) gene was identified as the genetic basis of Nestor-Guillermo Progeria syndrome (NGPS). This mutation was described to cause instability in the BANF1 protein, causing a disruption of the nuclear envelope structure.

Results: Here we demonstrate that the BANF1 A12T protein is indeed correctly folded, stable and that the observed phenotype, is likely due to the disruption of the DNA binding surface of the A12T mutant. We demonstrate, using biochemical assays, that the BANF1 A12T protein is impaired in its ability to bind DNA while its interaction with nuclear envelope proteins is unperturbed. Consistent with this, we demonstrate that ectopic expression of the mutant protein induces the NGPS cellular phenotype, while the protein localizes normally to the nuclear envelope.

Conclusions: Our study clarifies the role of the A12T mutation in NGPS patients, which will be of importance for understanding the development of the disease.

ANNUAL REPORT OF THE State Board of Health OF SOUTH CAROLINA FOR THE PERIOD BEGINNING JULY I, 1943, AND ENDING JUNE 30, 1944

This annual report from the South Carolina State Board of Health includes reports from its various divisions, statistical data concerning health issues and a list of board members.

A Program of Original Compositions, May 6, 1943

Concert Program for A Program of Original Compositions, May 6, 1943

Católicos e política na crise do liberalismo: o percurso de António Lino Neto(1873-1934)

Tese apresentada para cumprimento dos requisitos necessários à obtenção do grau de Doutor em História, especialidade em História Contemporânea

Dr. Rómulo Guillermo Jordan Sotelo 1929- 2007: biólogo marino cultor de principios ecológico-pesquero

Biografía y relación de artículos científicos.

8/5/20, fête de Jeanne d'Arc à Orléans [les sénateurs Rabier, Donon et Roy, le préfet Gaston Allain et le maréchal Foch dans la tribune officielle, place du Martroi] : [photographie de presse] / [Agence Rol]

Référence bibliographique : Rol, 59194

Bulletin - Société de Saint-Jean pour l'encouragement de l'art chrétien (1873)

Variante(s) de titre : Bulletin de la Société de Saint-Jean