Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Moritz J Frech"'
Autor:
Fatima Efendic, Saskia Krohn, Hugo Murua Escobar, Sunita Venkateswaran, Steffany A.L. Bennett, Andreas Hermann, Moritz J. Frech
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103178- (2023)
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a hereditary neurodegenerative disease caused by mutations in the FA2H gene. Patients show a wide range of neurological symptoms and an abnormal myelination. Here we describe the generatio
Externí odkaz:
https://doaj.org/article/7da70861230c483f9f2814d6e658b33e
Autor:
Barbara Szewczyk, René Günther, Julia Japtok, Moritz J. Frech, Marcel Naumann, Hyun O. Lee, Andreas Hermann
Publikováno v:
Cell Reports, Vol 42, Iss 2, Pp 112025- (2023)
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder causing progressive loss of motor neurons. Mutations in Fused in sarcoma (FUS) leading to its cytoplasmic mislocalization cause a subset of ALS. Under stress, mutant FUS loc
Externí odkaz:
https://doaj.org/article/adcf60dbf6714063851df8f52c3862a8
Autor:
Fatima Efendic, Christin Völkner, Saskia Krohn, Hugo Murua Escobar, Sunita Venkateswaran, Steffany Bennett, Andreas Hermann, Moritz J. Frech
Publikováno v:
Stem Cell Research, Vol 63, Iss , Pp 102863- (2022)
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a rare childhood onset neurodegenerative disease caused by mutations in the FA2H gene. Patients display abnormal myelination, cerebellar atrophy and some have iron deposition in the centra
Externí odkaz:
https://doaj.org/article/aab543386ef64e7b8f4316cf757dbd93
Autor:
Christin Völkner, Maik Liedtke, Janine Petters, Jan Lukas, Hugo Murua Escobar, Gudrun Knuebel, Jörn Bullerdiek, Carsten Holzmann, Andreas Hermann, Moritz J. Frech
Publikováno v:
Stem Cell Research, Vol 50, Iss , Pp 102127- (2021)
Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene leading to a massive cholesterol accumulation. Here, we describe the generation of induced
Externí odkaz:
https://doaj.org/article/2c0a50745eb84a2783f884c33d53361c
Autor:
Christin Völkner, Maik Liedtke, Janine Petters, Katharina Huth, Gudrun Knuebel, Hugo Murua Escobar, Jörn Bullerdiek, Jan Lukas, Andreas Hermann, Moritz J. Frech
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102056- (2020)
Niemann-Pick disease type C1 (NPC1) is a rare inherited lipid storage disorder caused by mutations in the NPC1 gene. Mutations lead to impaired lipid trafficking and subsequently to accumulation of cholesterol and sphingolipids. NPC1-patients present
Externí odkaz:
https://doaj.org/article/d99d3150ea374e94995b0502099a7fdc
Autor:
Janine Petters, Christin Völkner, Saskia Krohn, Hugo Murua Escobar, Jörn Bullerdiek, Ulrike Reuner, Moritz J. Frech, Andreas Hermann, Jan Lukas
Publikováno v:
Stem Cell Research, Vol 49, Iss , Pp 102079- (2020)
Wilson disease (WD) is a rare, monogenic disorder caused by mutations in the gene ATP7B. A loss of function of the expressed protein leads to excessive hepatic and cerebral copper storage. In this study, we present the generation of two induced pluri
Externí odkaz:
https://doaj.org/article/ae78d5daff104f98916aeae139f7fd34
Autor:
Janine Petters, Chiara Cimmaruta, Katharina Iwanov, Matthew L. Chang, Christin Völkner, Gudrun Knuebel, Hugo Murua Escobar, Moritz J. Frech, Andreas Hermann, Arndt Rolfs, Jan Lukas
Publikováno v:
Stem Cell Research, Vol 43, Iss , Pp - (2020)
Wilson disease (WD) is an inherited, autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. Pathogenic single nucleotide variants (SNVs) lead to functional impairment of the copper transporting ATPase ATP7B, resultin
Externí odkaz:
https://doaj.org/article/6957b5486146465e8e13817aeeb774b6
Publikováno v:
Cells, Vol 11, Iss 3, p 507 (2022)
Defective mitochondria are pathophysiological features of a number of neurodegenerative diseases. Here, we investigated mitochondrial dysfunction in the context of the rare lysosomal storage diseases Niemann–Pick disease type C1 and type C2 (NP-C1
Externí odkaz:
https://doaj.org/article/592e6549cee14517a9cfaf0c1ec6e258
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
Abstract Niemann-Pick disease Type C1 (NPC1) is a rare hereditary neurodegenerative disease. NPC1-patients suffer, amongst others, from ataxia, based on a loss of cerebellar Purkinje cells (PCs). Impaired expression/function of excitatory amino acid
Externí odkaz:
https://doaj.org/article/8a7a8cdad48c4320bb1096a908cfd2a0
Publikováno v:
Cells, Vol 11, Iss 3, p 319 (2022)
Niemann-Pick type C1 (NP-C1) is a fatal, progressive neurodegenerative disease caused by mutations in the NPC1 gene. Mutations of NPC1 can result in a misfolded protein that is subsequently marked for proteasomal degradation. Such loss-of-function mu
Externí odkaz:
https://doaj.org/article/51bdb449442346e49a09bdb92b73f800