Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Muriel Asheuer"'
Autor:
Mathieu Barbier, Audrey Sabbagh, Edwige Kasper, Muriel Asheuer, Ornella Ahouansou, Ingrid Pribill, Sonja Forss-Petter, Michel Vidaud, Johannes Berger, Patrick Aubourg
Publikováno v:
PLoS ONE, Vol 7, Iss 1, p e29872 (2012)
X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation ha
Externí odkaz:
https://doaj.org/article/7788fa683a194f05a9e8aadcf5cf8943
Autor:
Juliet Reid, Lluís Espinosa, Ted Cook, Elena Galea, Alistair McLaren, Ekaterina V. Ilieva, Aurora Pujol, Stéphane Fourcade, Fiona Kelly, Stewart Bates, Agatha Schlüter, Eva López, Jorge Galino, Laia Morató, Patrick Aubourg, Muriel Asheuer
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics; Vol 21
Human Molecular Genetics; Vol 21
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder characterized by axonopathy and demyelination in the central nervous system and adrenal insufficiency. Main X-ALD phenotypes are: (i) an adult adrenomyeloneuropathy (AMN) with axonopathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94571f1749054f371c84a6fd0455f479
Autor:
Johannes Berger, Wolfgang Köhler, Adelbert A. Roscher, Patrick Aubourg, Muriel Asheuer, Ania C. Muntau, Andreas Holzinger, Peter U. Mayerhofer, Esther M. Maier, Martina Rothe
Publikováno v:
Biochemical and Biophysical Research Communications. 377:176-180
Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee0000779285e4809719b7f2f57f72b6
https://doi.org/10.1016/j.bbrc.2008.09.092
https://doi.org/10.1016/j.bbrc.2008.09.092
Autor:
Ingrid Laurendeau, Dominique Vidaud, Yves Giovangrandi, Nicolas Vodovar, Martine Olivi, Ivan Bièche, Béatrice Parfait, Muriel Asheuer, Michel Vidaud
Publikováno v:
Annales de Génétique. 43:69-74
Bacterial DNA helicase RuvB protein is an essential component in homologous recombination and DNA double-strand break repair. Here, we report the gene structure of TIP49b/RUVBL2, a second putative human homologue of the bacterial RuvB gene. This gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20f08734f19101f481b1a8c2593f5e2c
https://doi.org/10.1016/s0003-3995(00)01016-9
https://doi.org/10.1016/s0003-3995(00)01016-9
Autor:
Michel Vidaud, Audrey Sabbagh, Patrick Aubourg, Ornella Ahouansou, Mathieu Barbier, Ingrid Pribill, Edwige Kasper, Muriel Asheuer, Johannes Berger, Sonja Forss-Petter
Publikováno v:
PLoS ONE
PLoS ONE, Vol 7, Iss 1, p e29872 (2012)
PLoS ONE; Vol 7
PLoS ONE, Vol 7, Iss 1, p e29872 (2012)
PLoS ONE; Vol 7
X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11e21b372a69fe100a0a2021098a0251
https://pubmed.ncbi.nlm.nih.gov/22253809
https://pubmed.ncbi.nlm.nih.gov/22253809
Autor:
Ingrid Laurendeau, Muriel Asheuer, Ivan Bièche, Ann B. Moser, Patrick Aubourg, Bernard Hainque, Michel Vidaud
Publikováno v:
Human molecular genetics. 14(10)
Childhood cerebral adrenoleukodystrophy (CCER), adrenomyeloneuropathy (AMN) and AMN with cerebral demyelination (AMN-C) are the main phenotypic variants of X-linked adrenoleukodystrophy (ALD). It is caused by mutations in the ABCD1 gene encoding a ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b761b307c969e88590836d81d2254588
https://pubmed.ncbi.nlm.nih.gov/15800013
https://pubmed.ncbi.nlm.nih.gov/15800013
Autor:
Muriel Asheuer, Ivan Bièche, Michel Vidaud, Martine Olivi, Rosette Lidereau, Béatrice Parfait, Yves Giovangrandi
Publikováno v:
Cancer letters. 168(1)
The six genes of the human chorionic gonadotropin beta subunit (CGB) and the gene of the luteinizing hormone beta subunit (LHB) are located in a cluster that spans 50 kb on chromosome 19q13.3. Only genes CGB7, B8, B5 and B3 can generate the human cho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d171b5744ae0d2ac8f128d5a89ea8db8
https://pubmed.ncbi.nlm.nih.gov/11368883
https://pubmed.ncbi.nlm.nih.gov/11368883