Publications by authors named "Emilie Azouguene"
Article Synopsis
- - Multiple chronic ulcers in the small intestine are often linked to Crohn's disease, but can also arise from issues related to abnormal prostaglandin activation or specific genetic mutations (like in the SLCO2A1 gene) affecting enteropathy.
- - A case involving two French sisters highlighted the identification of chronic enteropathy associated with SLCO2A1 (CEAS), revealing that this syndrome is not limited to Asian populations, as previously believed.
- - Genetic testing confirmed both sisters shared mutations in the SLCO2A1 gene, prompting the need for more awareness and genetic screening for this condition in European patients with recurrent intestinal issues resembling Crohn's disease.
Sandhoff disease (SD) is an autosomal recessive lysosomal storage disease caused by mutations in the HEXB gene encoding the beta subunit of hexosaminidases A and B, two enzymes involved in GM2 ganglioside degradation. Eleven French Sandhoff patients with infantile or juvenile forms of the disease were completely characterized using sequencing of the HEXB gene. A specific procedure was developed to facilitate the detection of the common 5'-end 16kb deletion which was frequent (36% of the alleles) in our study.
View Article and Find Full Text PDFRapid identification of HEXA mutations in Tay-Sachs patients.
Biochem Biophys Res Commun
February 2010
Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency. The purpose of this study was to characterize the molecular abnormalities in patients with infantile or later-onset forms of the disease. The complete sequencing of the 14 exons and flanking regions of the HEXA gene was performed with a unique technical condition in 10 unrelated TSD patients.
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