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Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12265
Abstract: Nucleotide sugars (NS) are fundamental molecules in life and play a key role in glycosylation reactions and signal conduction. Several pathways are involved in the synthesis of NS. The Leloir pathway, the main pathway for…
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Keywords:
throughout development;
knockout zebrafish;
galt knockout;
wildtype galt ... See more keywords
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Published in 2019 at "Cellular and Molecular Life Sciences"
DOI: 10.1007/s00018-019-03127-z
Abstract: The gene CNDP1 was associated with the development of diabetic nephropathy. Its enzyme carnosinase 1 (CN1) primarily hydrolyzes the histidine-containing dipeptide carnosine but other organ and metabolic functions are mainly unknown. In our study we…
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Keywords:
amino acid;
alters amino;
cndp1 knockout;
weight gain ... See more keywords
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Published in 2021 at "Nature Communications"
DOI: 10.1038/s41467-021-25604-5
Abstract: Coordinated chromatin interactions between enhancers and promoters are critical for gene regulation. The architectural protein CTCF mediates chromatin looping and is enriched at the boundaries of topologically associating domains (TADs), which are sub-megabase chromatin structures.…
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Keywords:
ctcf knockout;
gene expression;
ctcf;
gene ... See more keywords
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Published in 2019 at "Endocrinology"
DOI: 10.1210/en.2019-00445
Abstract: Thyroid hormones (THs) are crucial regulators of glucose metabolism and insulin sensitivity. Moreover, inactivating mutations in type 2 deiodinase (DIO2), the major TH-activating enzyme, have been associated with type 2 diabetes mellitus (T2D) in both…
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Keywords:
glucose homeostasis;
insulin;
age;
expression ... See more keywords
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Published in 2022 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009841
Abstract: Neural retina leucine zipper (NRL) is an essential gene for the fate determination and differentiation of the precursor cells into rod photoreceptors in mammals. Mutations in NRL are associated with the autosomal recessive enhanced S-cone…
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Keywords:
rod;
retinal degeneration;
nrl knockout;
model ... See more keywords
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Published in 2022 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2022.822143
Abstract: Pseudoxanthoma elasticum (PXE) is a multisystem ectopic mineralization disorder caused by pathogenic variants in the ABCC6 gene. Though complications of the disease can be treated, PXE itself remains currently intractable. A strategy for rapid and…
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Keywords:
abcc6a knockout;
zebrafish model;
pseudoxanthoma elasticum;
mineralization ... See more keywords
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Published in 2023 at "Genes"
DOI: 10.3390/genes14040838
Abstract: Hemifacial microsomia (HFM), a rare disorder of first- and second-pharyngeal arch development, has been linked to a point mutation in VWA1 (von Willebrand factor A domain containing 1), encoding the protein WARP in a five-generation…
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Keywords:
vwa1 knockout;
chondrogenesis;
regulating fgf;
fgf pathway ... See more keywords
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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24076456
Abstract: DJ-1 is a redox sensitive protein with a wide range of functions related to oxidative stress protection. Mutations in the park7 gene, which codes for DJ-1 are associated with early onset familial Parkinson’s disease and…
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Keywords:
progressive motor;
disease;
parkinson disease;
motor ... See more keywords
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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24097740
Abstract: The adhesion G-protein-coupled receptor is a seven-transmembrane receptor protein with a complex structure. Impaired GPR56 has been found to cause developmental damage to the human brain, resulting in intellectual disability and motor dysfunction. To date,…
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Keywords:
transcriptomics phenotypic;
phenotypic analysis;
gpr56 knockout;
knockout zebrafish ... See more keywords