Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Molto, L Pianese… - Science, 1996 - science.org
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves
the central and peripheral nervous systems and the heart. A gene, X25, was identified in the …
the central and peripheral nervous systems and the heart. A gene, X25, was identified in the …
[HTML][HTML] Clinical and genetic abnormalities in patients with Friedreich's ataxia
A Dürr, M Cossee, Y Agid, V Campuzano… - … England Journal of …, 1996 - Mass Medical Soc
Background Friedreich's ataxia, the most common inherited ataxia, is associated with a
mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin …
mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin …
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
V Campuzano, L Montermini, Y Lutz… - Human molecular …, 1997 - academic.oup.com
Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function
mutations in the frataxin gene. In order to unravel frataxin function we developed monoclonal …
mutations in the frataxin gene. In order to unravel frataxin function we developed monoclonal …
[PDF][PDF] Tumor induction by an endogenous K-ras oncogene is highly dependent on cellular context
…, P Dubus, M Barradas, M Serrano, V Campuzano… - Cancer cell, 2003 - cell.com
We have targeted a K-ras allele in mouse embryonic stem (ES) cells to express a K-Ras
V12 oncoprotein along with a marker protein (β-geo) from a single bicistronic transcript. …
V12 oncoprotein along with a marker protein (β-geo) from a single bicistronic transcript. …
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
H Koutnikova, V Campuzano, F Foury, P Dollé… - Nature …, 1997 - nature.com
Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA).
Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse …
Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse …
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations
M Cossée, M Schmitt, V Campuzano… - Proceedings of the …, 1997 - National Acad Sciences
Friedreich’s ataxia, the most frequent inherited ataxia, is caused, in the vast majority of cases,
by large GAA repeat expansions in the first intron of the frataxin gene. The normal …
by large GAA repeat expansions in the first intron of the frataxin gene. The normal …
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase
H Koutnikova, V Campuzano… - Human molecular …, 1998 - academic.oup.com
Frataxin is a mitochondrial protein deficient in Friedreich ataxia (FRDA) and which is associated
yeast two-hybrid assay. In in vitro assays, MPP|b binds frataxin which is cleaved by the …
yeast two-hybrid assay. In in vitro assays, MPP|b binds frataxin which is cleaved by the …
Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder
…, LA Pérez-Jurado, V Campuzano - Human molecular …, 2014 - academic.oup.com
Williams–Beuren syndrome is a developmental multisystemic disorder caused by a recurrent
1.55–1.83 Mb heterozygous deletion on human chromosome band 7q11.23. Through …
1.55–1.83 Mb heterozygous deletion on human chromosome band 7q11.23. Through …
[PDF][PDF] Protein farnesyltransferase in embryogenesis, adult homeostasis, and tumor development
Protein farnesyltransferase (FTase) is an enzyme responsible for posttranslational modification
of proteins carrying a carboxy-terminal CaaX motif. Farnesylation allows substrates to …
of proteins carrying a carboxy-terminal CaaX motif. Farnesylation allows substrates to …
Copy number variation at the 7q11. 23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion
…, R Flores, N Rivera-Brugués, V Campuzano… - Genome …, 2008 - genome.cshlp.org
Large copy number variants (CNVs) have been recently found as structural polymorphisms
of the human genome of still unknown biological significance. CNVs are significantly …
of the human genome of still unknown biological significance. CNVs are significantly …