Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
A Accogli, S Shakya, T Yang, C Insinna, SY Kim… - Nature …, 2024 - nature.com
WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking.
Here, we describe male patients with missense and nonsense variants within the WD40 …
Here, we describe male patients with missense and nonsense variants within the WD40 …
Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review
L Su, MZ Peng, XD Chen, S Wu… - Molecular Genetics & …, 2024 - Wiley Online Library
Abstract Background Peroxisome biogenesis disorders (PBDs) are caused by variants in
PEX genes that impair peroxisome function. Zellweger spectrum disorders (ZSDs) are the …
PEX genes that impair peroxisome function. Zellweger spectrum disorders (ZSDs) are the …
[PDF][PDF] University of Applied Sciences–FH JOANNEUM
M PLANK - epub.fh-joanneum.at
Fatty acids with 22 or more carbon atoms are called very-long-chain fatty acids. In the
human body, these fatty acids are degraded by peroxisomal β-oxidation. An elevated serum …
human body, these fatty acids are degraded by peroxisomal β-oxidation. An elevated serum …