Zobrazeno 1 - 10
of 2 519
pro vyhledávání: '"I, Wolf"'
Autor:
Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxychol
Externí odkaz:
https://doaj.org/article/06bcf3f754ad448a8d1311bfc4c466de
Publikováno v:
Virology Journal, Vol 21, Iss 1, Pp 1-12 (2024)
Abstract Background Viruses with double-stranded (ds) DNA genomes in the realm Duplodnaviria share a conserved structural gene module but show a broad range of variation in their repertoires of DNA replication proteins. Some of the duplodnaviruses en
Externí odkaz:
https://doaj.org/article/2d986e9dffac478086a7957109414274
Autor:
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I. Wolf, Annet M. Bosch
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 233-238 (2024)
Abstract Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life
Externí odkaz:
https://doaj.org/article/fed9c733ea2a4ea1b33d7351da7e181c
Publikováno v:
BMC Biology, Vol 22, Iss 1, Pp 1-12 (2024)
Abstract Background Microbiomes are generally characterized by high diversity of coexisting microbial species and strains, and microbiome composition typically remains stable across a broad range of conditions. However, under fixed conditions, microb
Externí odkaz:
https://doaj.org/article/ebc9bb5972b344da9beb37560cf6823a
Autor:
Bonnie C. Plug, Ilma M. Revers, Marjolein Breur, Gema Muñoz González, Jaap A. Timmerman, Niels R.C. Meijns, Daniek Hamberg, Jikke Wagendorp, Erik Nutma, Nicole I. Wolf, Antonio Luchicchi, Huibert D. Mansvelder, Niek P. van Til, Marjo S. van der Knaap, Marianna Bugiani
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-17 (2024)
Abstract Human brain experimental models recapitulating age- and disease-related characteristics are lacking. There is urgent need for human-specific tools that model the complex molecular and cellular interplay between different cell types to assess
Externí odkaz:
https://doaj.org/article/95f2002b28a24aafa6da02213860ae53
Autor:
Daphne H. Schoenmakers, Irene vanBeelen, Marije M.C. Voermans, Denise Perik, Menno D. Stellingwerff, Nicole I. Wolf, Johannes Berkhof, Marjo S. van derKnaap
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 650-661 (2024)
Abstract Objectives Investigate the results and usability of the Vineland‐3 as an outcome measure in vanishing white matter patients. Methods A cross‐sectional investigation of the Vineland‐3 based on interviews with caregivers, the Health Util
Externí odkaz:
https://doaj.org/article/2f687ce0e8ea4cd9b40d2995598ebc3d
Autor:
Mustafa Erkam Özateş, Alper Yaman, Firooz Salami, Sarah Campos, Sebastian I. Wolf, Urs Schneider
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Clinical gait analysis is a crucial step for identifying foot disorders and planning surgery. Automating this process is essential for efficiently assessing the substantial amount of gait data. In this study, we explored the potential of sta
Externí odkaz:
https://doaj.org/article/522f51f4a1e8473fb13b3ca7c40fb5c0
Autor:
Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidelines are lacking. Cli
Externí odkaz:
https://doaj.org/article/15b67733f9df4ad2852654ef151aeadb
Autor:
Zhongyi Lu, Runyue Xia, Siyu Zhang, Jie Pan, Yang Liu, Yuri I. Wolf, Eugene V. Koonin, Meng Li
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-7 (2024)
Abstract The archaeal ancestor of eukaryotes apparently belonged to the phylum Asgardarchaeota, but the ecology and evolution of Asgard archaea are poorly understood. The optimal GDP-binding temperature of a translation elongation factor (EF-1A or EF
Externí odkaz:
https://doaj.org/article/35e201b9dbeb45e8a714e9c8fc875b66
Publikováno v:
eLife, Vol 13 (2024)
A comprehensive census of McrBC systems, among the most common forms of prokaryotic Type IV restriction systems, followed by phylogenetic analysis, reveals their enormous abundance in diverse prokaryotes and a plethora of genomic associations. We foc
Externí odkaz:
https://doaj.org/article/b309354c91c44c478f2a7f709132435b