Generation of a set of induced pluripotent stem cell lines from two Alzheimer disease patients carrying APOE4 (MLUi007-J; MLUi008-A) and healthy old donors carrying APOE3 (MLUi009-A; MLUi010-B) to study APOE in aging and disease.

Late-onset Alzheimer disease (LOAD) is the most frequent neurodegenerative disease, and the APOE ε4 allele is the most prominent risk factor for LOAD. Four human induced pluripotent stem cell (iPSC) lines MLUi007-J, MLUi008-B, MLUi009-A, and MLUi010-B were generated from LOAD patients and healthy matched donors by reprogramming of B-lymphoblastoid cells (B-LCLs) with episomal plasmids. The application of B-LCLs holds a great promise to model LOAD and other diseases because they can easily be generated from primary peripheral blood mononuclear cells (PBMCs) by infection with the Epstein-Barr virus (EBV).

Accumulation of glycated proteins suggesting premature ageing in lamin B receptor deficient mice.

Accumulation of advanced glycation end products (AGEs) is accompanied by increased free radical activity which contributes to ageing and the development or worsening of degenerative diseases. Apart from other physiological factors, AGEs are also an important biomarker for premature ageing. Here we report protein modifications (glycation) in a mouse model of lamin B receptor deficient ic /ic mice displaying skin defects similar to those of classical progeria.

Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature.

Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and environmental factors. Chromosomal abnormalities are a major cause of diseases and cytogenetic mapping is one of the powerful tools for the identification of novel disease genes.

Paramutation-like effects at the mouse scapinin (Phactr3) locus.

Paramutation-like phenomena have been extensively studied in plants and so far described for a very few engineered loci in the mouse. Here we report an allele-specific expression analysis of the Phactr3 (phosphatase and actin regulator 3) locus by identifying the first internal mouse transcripts with a paramutation-like effect not associated with transgenic or knockout mice. In our previous work, we showed that the Phactr3 gene was mainly transcribed in the brain, exhibiting a complex genomic organisation with four alternatively spliced leader exons.