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of 5
pro vyhledávání: '"Robert Hardt"'
Autor:
Silvia Jordans, Matthias Eckhardt, Dominic Winter, Robert Hardt, Lihua Wang-Eckhardt, Volkmar Gieselmann
Publikováno v:
Human Molecular Genetics. 29:3616-3630
Spastic paraplegia 35 (SPG35) (OMIM: 612319) or fatty acid hydroxylase-associated neurodegeneration (FAHN) is caused by deficiency of fatty acid 2-hydroxylase (FA2H). This enzyme synthesizes sphingolipids containing 2-hydroxylated fatty acids, which
Autor:
Elisa Balboa, Tamara Marín, Dominic Winter, Silvana Zanlungo, Robert Hardt, Juan Esteban Oyarzún, Thea van den Bosch, Andrés D. Klein, Pablo Contreras, Boris Rebolledo-Jaramillo, Alejandra R. Alvarez
Publikováno v:
Cells; Volume 10; Issue 8; Pages: 2159
Cells
Cells, Vol 10, Iss 2159, p 2159 (2021)
Cells
Cells, Vol 10, Iss 2159, p 2159 (2021)
Niemann-Pick type C disease (NPCD) is a lysosomal storage disorder caused by mutations in the NPC1 gene. The most affected tissues are the central nervous system and liver, and while significant efforts have been made to understand its neurological c
Publikováno v:
Biochemical Journal. 475:853-871
The fatty acid 2-hydroxylase (FA2H) is essential for synthesis of 2-hydroxylated fatty acids in myelinating and other cells, and deficiency of this enzyme causes a complicated form of hereditary spastic paraplegia also known as fatty acid hydroxylase
Publikováno v:
PROTEOMICS. 21:2100129
The mass spectrometry-compatible surfactant RapiGest promotes the enzymatic digestion of proteins by facilitating their unfolding while retaining enzymatic activity. RapiGest consists of a hydrophilic head and a hydrophobic tail, which can be separat
Autor:
Thomas Ruppert, Manuel Weiß, Gislene Pereira, Elmar Schiebel, Robert Hardt, Patrick Partscht, Nan Peng Chen, Aliakbar Jafarpour, Bernd Heßling, Holger Lorenz, Borhan Uddin, Annett Neuner
Publikováno v:
EMBO Reports
CDC14A codes for a conserved proline-directed phosphatase, and mutations in the gene are associated with autosomal-recessive severe to profound deafness, due to defective kinocilia. A role of CDC14A in cilia formation has also been described in other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9f99ac24162bb1b31e970a615e40bd
https://europepmc.org/articles/PMC6322383/
https://europepmc.org/articles/PMC6322383/