Concept

Mutation ponctuelle

Publications associées (256)

Bax-Induced Apoptosis in Leber's Congenital Amaurosis: A Dual Role in Rod and Cone Degeneration

Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages. Retinal degeneration in Rpe65(-/-) ...

Public Library of Science2009

Isolation and Structure Determination of Two Microcystins and Sequence Comparison of the McyABC Adenylation Domains in Planktothrix Species

Cyril Portmann, Karl Gademann

Microcystins (MCs) are toxic heptapeptides found in cyanobacteria and share the common structure cyclo(-D-Ala1-L- X2-D-isoMeAsp3-L-Z4-Adda5-D-isoGlu6-Mdha7). The letters X and Z in the general formula above represent a wide range of L-amino acids that occu ...

2008

Urbanisation, City Design and tue Urban Model in West Africa

Jérôme Chenal

Linkage between the urbanisation process, urban models, social practices, mutations of the public space, and management and planning approaches of cities in the South was studied. Critical understanding of traditional urban instruments and ways to create i ...

2008

Fetal-juvenile origins of point mutations in the adult human tracheal-bronchial epithelium: Absence of detectable effects of age, gender or smoking status

Stephan Morgenthaler, Per Olaf Ekstrom

Allele-specific mismatch amplification mutation assays (MAMA) of anatomically distinct sectors of the upper bronchial tracts of nine nonsmokers revealed many numerically dispersed clusters of the point mutations C742T, G746T, G747T of the TP53 gene, G35T o ...

2008

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

Didier Trono, Isabelle Barde, Sonia Verp

In spinal muscular atrophy (SMA), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (SMN1) is deleted or inactivated. The nearly identical SMN2 gene has a silent mutation that impairs the utilization of exon 7 and the pro ...

Oxford University Press2008

Joining the loops: beta-globin gene regulation

Daniël Noordermeer

The mammalian beta-globin locus is a multigene locus containing several globin genes and a number of regulatory elements. During development, the expression of the genes changes in a process called "switching." The most important regulatory element in the ...

2008

Control of M. tuberculosis ESAT-6 secretion and specific T cell recognition by PhoP

Stewart Cole

Analysis of mycobacterial strains that have lost their ability to cause disease is a powerful approach to identify yet unknown virulence determinants and pathways involved in tuberculosis pathogenesis. Two of the most widely used attenuated strains in the ...

2008

The conformational flexibility of the carboxy terminal residues 105-114 is a key modulator of the catalytic activity and stability of macrophage migration inhibitory factor

Ursula Röthlisberger, Hilal Lashuel, Michele Cascella, Magdalena Zweckstetter, Hajer Ouertatani-Sakouhi, Farah El Turk

Macrophage migration inhibitory factor (MIF) is a multifunctional protein and a major mediator of innate immunity. Although X-ray crystallography revealed that MIF exists as a homotrimer, its oligomerization state in vivo and the factors governing its olig ...

American Chemical Society2008

Inhibition of alpha-synuclein fibrillization by dopamine is mediated by interactions with five C-terminal residues and with E83 in the NAC region

Hilal Lashuel, Adrian Schmid, Paolo Carloni, Alessandra Chesi

The interplay between dopamine and alpha-synuclein (AS) plays a central role in Parkinson's disease (PD). PD results primarily from a severe and selective devastation of dopaminergic neurons in substantia nigra pars compacta. The neuropathological hallmark ...

Public Library of Science2008

Effects of base-pair sequence, nicks and gaps on DNA minicircle shapes

Arnaud Amzallag

DNA is a long polymer with the form of a double helix of about two nanometers diameter (2.10-9 meters). It is composed of nucleotides whose sequence carries the information of heredity. The four possible nucleotides have slightly different geometries, and ...

EPFL2008

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