Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Carmen Diez-Fernandez"'
Autor:
Georgios Makris, Semih Kayhan, Marvin Kreuzer, Véronique Rüfenacht, Erica Faccin, Jarl Underhaug, Carmen Diez‐Fernandez, Philip A. Knobel, Martin Poms, Nadine Gougeard, Vicente Rubio, Aurora Martinez, Martin Pruschy, Johannes Häberle
Publikováno v:
Cancer Communications, Vol 43, Iss 4, Pp 508-512 (2023)
Externí odkaz:
https://doaj.org/article/a86d6ccade28424492f8f58fb1112fa6
Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis
Autor:
Marta Spodenkiewicz, Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle-Britschgi, Johannes Häberle
Publikováno v:
Biology, Vol 5, Iss 4, p 40 (2016)
Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many o
Externí odkaz:
https://doaj.org/article/498bfb6833764ea1ba77473a2ae96ab3
Autor:
Carmen Diez-Fernandez, Corinne Gemperle, Véronique Rüfenacht, D. Sean Froese, Ljubica Caldovic, Matthias Lauber, Johannes Häberle, Georgios Makris
Publikováno v:
Biochimie. 183:89-99
Despite biochemical and genetic testing being the golden standards for identification of proximal urea cycle disorders (UCDs), genotype-phenotype correlations are often unclear. Co-occurring partial defects affecting more than one gene have not been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1045886e80851369001dd7848f481bf6
https://doi.org/10.1016/j.biochi.2020.12.003
https://doi.org/10.1016/j.biochi.2020.12.003
Autor:
Georgios Makris, Semih Kayhan, Marvin Kreuzer, Véronique Rüfenacht, Erica Faccin, Jarl Underhaug, Carmen Diez-Fernandez, Philip A. Knobel, Martin Poms, Aurora Martinez, Martin Pruschy, Johannes Häberle
Publikováno v:
Molecular Genetics and Metabolism. 135:284-285
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e8c63177df7ba89d91f56b08dcd3ad9
https://doi.org/10.1016/j.ymgme.2022.01.062
https://doi.org/10.1016/j.ymgme.2022.01.062
Autor:
Anna Klimovskaia, Beat Thöny, Ralph Fingerhut, Jakub Krijt, Jean-Marc Nuoffer, Gabriella Allegri, Hiu Man Grisch-Chan, Viktor Kožich, Benjamin Causton, Tanja Scherer, Johannes Häberle, Sereina Deplazes, Carmen Diez-Fernandez, Nicole Rimann, Jonathan W. Leff
Publikováno v:
Journal of Inherited Metabolic Disease. 42:1064-1076
The most common ureagenesis defect is X-linked ornithine transcarbamylase (OTC) deficiency which is a main target for novel therapeutic interventions. The spf ash mouse model carries a variant (c.386G>A, p.Arg129His) that is also found in patients. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf3e0a821a69a301885b0f46378e2962
https://doi.org/10.1002/jimd.12068
https://doi.org/10.1002/jimd.12068
Autor:
Ayelet Erez, Carmen Diez-Fernandez, Carlo Dionisi-Vici, Shaul Lerner, Giusy Ranucci, Julien Baruteau, Sandesh C.S. Nagamani, Johannes Häberle, Paul Gissen
Publikováno v:
Journal of Inherited Metabolic Disease. 42:1147-1161
The first patients affected by argininosuccinic aciduria (ASA) were reported 60 years ago. The clinical presentation was initially described as similar to other urea cycle defects, but increasing evidence has shown overtime an atypical systemic pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77c90b3550c08b39777d7cd94d4c7e11
https://doi.org/10.1002/jimd.12047
https://doi.org/10.1002/jimd.12047
Autor:
Ralph Fingerhut, Carmen Diez-Fernandez, Corinne Gemperle, Johannes Häberle, Véronique Rüfenacht
Publikováno v:
Human Mutation. 39:1029-1050
The urea cycle disorder argininemia is caused by a defective arginase 1 (ARG1) enzyme resulting from mutations in the ARG1 gene. Patients generally develop hyperargininemia, spastic paraparesis, progressive neurological and intellectual impairment, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f17827b600ce402a45ff9c2010d3c68
https://doi.org/10.1002/humu.23545
https://doi.org/10.1002/humu.23545
Publikováno v:
Human Mutation. 38:471-484
Citrullinemia type 1 is an autosomal recessive urea cycle disorder caused by defects in the argininosuccinate synthetase (ASS) enzyme due to mutations in ASS1 gene. An impairment of ASS function can lead to a wide spectrum of phenotypes, from life-th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d38e839ec34b663d9d3cdd2d2a87949
https://doi.org/10.1002/humu.23184
https://doi.org/10.1002/humu.23184
Autor:
Hugues Henry, Carmen Diez-Fernandez, Peter Vermathen, Gaëlle Diserens, Olivier Braissant, Marc Loup, Damian Hertig, Jean-Marc Nuoffer, Johannes Häberle
The urea cycle disorder (UCD) argininosuccinate lyase (ASL) deficiency, caused by a defective ASL enzyme, exhibits a wide range of phenotypes, from life-threatening neonatal hyperammonemia to asymptomatic patients, with only the biochemical marker ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c7c2502b0b94919afb42f5df1566754
https://doi.org/10.5167/uzh-182918
https://doi.org/10.5167/uzh-182918
Autor:
Carmen Diez-Fernandez, Corinne Gemperle, Véronique Rüfenacht, Olivia Wellauer, Ralph Fingerhut, Johannes Häberle
Publikováno v:
Journal of medical genetics
Background Citrullinemia type 1 is an autosomal-recessive urea cycle disorder caused by mutations in the ASS1 gene and characterised by increased plasma citrulline concentrations. Of the ∼90 argininosuccinate synthetase (ASS) missense mutations rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66212143bba52802b21cc75ff67a19df
https://doi.org/10.1136/jmedgenet-2016-103937
https://doi.org/10.1136/jmedgenet-2016-103937