Université de Fribourg

Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor β (esr2)

Lang-Muritano, Mariarosaria ; Sproll, Patrick ; Wyss, Sascha ; Kolly, Anne ; Hürlimann, Renate ; Konrad, Daniel ; Biason-Lauber, Anna

In: The Journal of Clinical Endocrinology & Metabolism, 2018, vol. 103, no. 10, p. 3748–3756

Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic...

Université de Fribourg

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency

Korner, Germaine ; Noain, Daniela ; Ying, Ming ; Hole, Magnus ; Flydal, Marte I. ; Scherer, Tanja ; Allegri, Gabriella ; Rassi, Anahita ; Fingerhut, Ralph ; Becu-Villalobos, Damasia ; Pillai, Samyuktha ; Wueest, Stephan ; Konrad, Daniel ; Lauber-Biason, Anna ; Baumann, Christian R. ; Bindoff, Laurence A. ; Martinez, Aurora ; Thöny, Beat

In: Brain, 2015, vol. 138, no. 10, p. 2948–2963

Tyrosine hydroxylase catalyses the hydroxylation of L-tyrosine to l-DOPA, the rate-limiting step in the synthesis of catecholamines. Mutations in the TH gene encoding tyrosine hydroxylase are associated with the autosomal recessive disorder tyrosine hydroxylase deficiency, which manifests phenotypes varying from infantile parkinsonism and DOPA-responsive dystonia, also termed type A, to complex...

Université de Fribourg

Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes

Biason-Lauber, Anna ; Böni-Schnetzler, Marianne ; Hubbard, Basil P. ; Bouzakri, Karim ; Brunner, Andrea ; Cavelti-Weder, Claudia ; Keller, Cornelia ; Meyer-Böni, Monika ; Meier, Daniel T. ; Brorsson, Caroline ; Timper, Katharina ; Leibowitz, Gil ; Patrignani, Andrea ; Bruggmann, Remy ; Boily, Gino ; Zulewski, Henryk ; Geier, Andreas ; Cermak, Jennifer M. ; Elliott, Peter ; Ellis, James L. ; Westphal, Christoph ; Knobel, Urs ; Eloranta, Jyrki J. ; Kerr-Conte, Julie ; Pattou, François ; Konrad, Daniel ; Matter, Christian M. ; Fontana, Adriano ; Rogler, Gerhard ; Schlapbach, Ralph ; Regairaz, Camille ; Carballido, José M. ; Glaser, Benjamin ; McBurney, Michael W. ; Pociot, Flemming ; Sinclair, David A. ; Donath, Marc Y.

In: Cell Metabolism, 2013, vol. 17, no. 3, p. 448-455

Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative...