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of 9
pro vyhledávání: '"Kunwar Jung-KC"'
Autor:
Oscar Aubi, Karina S. Prestegård, Kunwar Jung-KC, Tie-Jun Sten Shi, Ming Ying, Ann Kari Grindheim, Tanja Scherer, Arve Ulvik, Adrian McCann, Endy Spriet, Beat Thöny, Aurora Martinez
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Phenylketonuria (PKU) is caused by autosomal recessive variants in phenylalanine hydroxylase (PAH) and can lead to neurotoxicity. Here the authors describe a mouse model of PKU based on a mutation in phenylalanine hydroxylase (R261Q) which replicates
Externí odkaz:
https://doaj.org/article/020954ecba5d415e91bb8d1edb0ad49b
Autor:
Karina S. Prestegård, Tanja Scherer, Ming Ying, Nenad Blau, Beat Thöny, Aurora Martinez, Ana Jorge-Finnigan, Tie-Jun Sten Shi, Nastassja Himmelreich, Kunwar Jung-KC
Publikováno v:
Human Mutation. 40:483-494
DNAJC12, a type III member of the HSP40/DNAJ family, has been identified as the specific co-chaperone of phenylalanine hydroxylase (PAH) and the other aromatic amino acid hydroxylases. DNAJ proteins work together with molecular chaperones of the HSP7
Autor:
Ming Ying, Ann Kari Grindheim, Kunwar Jung-KC, Tie-Jun Sten Shi, Beat Thöny, Arve Ulvik, Endy Spriet, Tanja Scherer, Aurora Martinez, Oscar Aubi, Adrian McCann, Karina S. Prestegård
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Phenylketonuria (PKU) is caused by autosomal recessive variants in phenylalanine hydroxylase (PAH), leading to systemic accumulation of L-phenylalanine (L-Phe) that may reach neurotoxic levels. A homozygous Pah-R261Q mouse, with a highly prevalent mi
Autor:
Kunwar Jung-KC, Ivan Rios-Mondragon, Ming Ying, Aurora Martinez, Michaël Marie, Ana Jorge-Finnigan, Michael F. Salvatore, Rune Kleppe, Jaakko Saraste
Publikováno v:
Journal of Biological Chemistry
Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine into L-DOPA, which is the rate-limiting step in the synthesis of catecholamines, such as dopamine, in dopaminergergic neurons. Low dopamine levels and death of the dopaminergic neurons
Autor:
Kunwar Jung‐KC, Nastassja Himmelreich, Karina S. Prestegård, Tie‐Jun Sten Shi, Tanja Scherer, Ming Ying, Ana Jorge‐Finnigan, Beat Thöny, Nenad Blau, Aurora Martinez
Publikováno v:
Human Mutation. 40
Autor:
Sembajwe, Lawrence Fred1 larryfeds@yahoo.com, Kunwar, Jung KC2
Publikováno v:
Archives Medical Review Journal / Arsiv Kaynak Tarama Dergisi. 2016, Vol. 25 Issue 2, p119-128. 10p.
Autor:
Ming Ying, Maria Teresa Bezem, Aurora Martinez, Lars Herfindal, Didier Betbeder, Edvin Tang Gundersen, Ana Jorge-Finnigan, Fredrik Gullaksen Johannessen, Kunwar Jung-KC
Publikováno v:
Bioconjugate chemistry. 29(2)
Enzyme replacement therapy (ERT) is a therapeutic approach envisioned decades ago for the correction of genetic disorders, but ERT has been less successful for the correction of disorders with neurological manifestations. In this work, we have tested
Autor:
Kunwar Jung-KC, István T. Horváth, Alexander Sauter, Aurora Martinez, Ludmilla A. Morozova-Roche, Ana Jorge-Finnigan, Anne Baumann
Publikováno v:
Scientific Reports
Tyrosine hydroxylase (TH), a rate-limiting enzyme in the synthesis of catecholamine neurotransmitters and hormones, binds to negatively charged phospholipid membranes. Binding to both large and giant unilamellar vesicles causes membrane permeabilizat
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