Zobrazeno 1 - 10
of 1 286
pro vyhledávání: '"Konrad Sandhoff"'
Publikováno v:
Free Neuropathology, Vol 4 (2023)
On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital dis-ease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy. While a dia
Externí odkaz:
https://doaj.org/article/d35e32bf5879404fb32a37a016b9c018
Publikováno v:
Journal of Lipid Research, Vol 60, Iss 6, Pp 1099-1111 (2019)
The catabolism of ganglioside GM2 is dependent on three gene products. Mutations in any of these genes result in a different type of GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease, and the B1 and AB variants of GM2 gangliosidosis), with GM2
Externí odkaz:
https://doaj.org/article/d5d37281cf1645a3bf1c87407c0e0d50
Autor:
Mariangela Sociale, Anna-Lena Wulf, Bernadette Breiden, Kathrin Klee, Melanie Thielisch, Franka Eckardt, Julia Sellin, Margret H. Bülow, Sinah Löbbert, Nadine Weinstock, André Voelzmann, Joachim Schultze, Konrad Sandhoff, Reinhard Bauer
Publikováno v:
Cell Reports, Vol 22, Iss 4, Pp 967-978 (2018)
Maintenance of metabolic homeostasis requires adaption of gene regulation to the cellular energy state via transcriptional regulators. Here, we identify a role of ceramide synthase (CerS) Schlank, a multiple transmembrane protein containing a catalyt
Externí odkaz:
https://doaj.org/article/6d12fa84536348079733876a5644e65b
Autor:
Bernadette Breiden, Konrad Sandhoff
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 16, p 9001 (2021)
Here, we present the main features of human acid sphingomyelinase (ASM), its biosynthesis, processing and intracellular trafficking, its structure, its broad substrate specificity, and the proposed mode of action at the surface of the phospholipid su
Externí odkaz:
https://doaj.org/article/c5556fbab755436685b80c33fb9636c5
Autor:
Julia Sellin, Heike Schulze, Marie Paradis, Dominic Gosejacob, Cyrus Papan, Andrej Shevchenko, Olympia Ekaterina Psathaki, Achim Paululat, Melanie Thielisch, Konrad Sandhoff, Michael Hoch
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 6, Pp 737-750 (2017)
Sphingolipidoses are inherited diseases belonging to the class of lysosomal storage diseases (LSDs), which are characterized by the accumulation of indigestible material in the lysosome caused by specific defects in the lysosomal degradation machiner
Externí odkaz:
https://doaj.org/article/58f4189d818c4333997ae1d0e87aa98b
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 3, Pp 563-577 (2017)
Glucosylceramide (GlcCer) is the primary storage lipid in the lysosomes of Gaucher patients and a secondary one in Niemann-Pick disease types A, B, and C. The regulatory roles of lipids on the hydrolysis of membrane bound GlcCer by lysosomal β-gluco
Externí odkaz:
https://doaj.org/article/67b6391b149c4207a5dc847549122bc9
Autor:
Bernadette Breiden, Konrad Sandhoff
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 7, p 2566 (2020)
Gangliosidoses are caused by monogenic defects of a specific hydrolase or an ancillary sphingolipid activator protein essential for a specific step in the catabolism of gangliosides. Such defects in lysosomal function cause a primary accumulation of
Externí odkaz:
https://doaj.org/article/b8ccc88f79b64398981f9d458f9264e5
Autor:
Nesli-Ece Sen, Aleksandar Arsovic, David Meierhofer, Susanne Brodesser, Carola Oberschmidt, Júlia Canet-Pons, Zeynep-Ece Kaya, Melanie-Vanessa Halbach, Suzana Gispert, Konrad Sandhoff, Georg Auburger
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 23, p 5854 (2019)
Ataxin-2 (human gene symbol ATXN2) acts during stress responses, modulating mRNA translation and nutrient metabolism. Ataxin-2 knockout mice exhibit progressive obesity, dyslipidemia, and insulin resistance. Conversely, the progressive ATXN2 gain of
Externí odkaz:
https://doaj.org/article/6a63903b50864efea4b4da974dedfa9e
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 10, Pp 1861-1879 (2015)
A Förster resonance energy transfer-based fusion and transfer assay was developed to study, in model membranes, protein-mediated membrane fusion and intermembrane lipid transfer of fluorescent sphingolipid analogs. For this assay, it became necessar
Externí odkaz:
https://doaj.org/article/7deb1920324449a4afd75c3b752915ba
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 9, Pp 1747-1761 (2015)
Ganglioside GM2 is the major lysosomal storage compound of Tay-Sachs disease. It also accumulates in Niemann-Pick disease types A and B with primary storage of SM and with cholesterol in type C. Reconstitution of GM2 catabolism with β-hexosaminidase
Externí odkaz:
https://doaj.org/article/b0702d18fa274f06b1872a7a0e4d1e7f