A5006940775- Metabolism and Genetic Disorders
- Porphyrin Metabolism and Disorders
- Folate and B Vitamins Research
- Zebrafish Biomedical Research Applications
- Receptor Mechanisms and Signaling
- Neurogenesis and neuroplasticity mechanisms
- Molecular Biology Techniques and Applications
- Ocular Disorders and Treatments
- Bone and Dental Protein Studies
- Neuroscience and Neuropharmacology Research
- Retinal Development and Disorders
The University of Texas at El Paso
2023-2024
Summary Mutation of the GABRA1 gene is associated with neurodevelopmental defects and epilepsy. encodes for α1 subunit gamma-aminobutyric acid type A receptor (GABA R), which regulates fast inhibitory impulses nervous system. Multiple model systems have previously been developed to understand function during development, but these models produced complex at times incongruent data. Thus, additional are required validate substantiate published results. We investigated behavioral swim patterns...
ZNF143 is a sequence-specific DNA binding protein that regulates the expression of protein-coding genes and small RNA molecules. In humans, interacts with HCFC1, transcriptional cofactor, to regulate downstream target genes, including MMACHC, which encodes an enzyme involved in cobalamin (cbl) metabolism. Mutations HCFC1 or cause inborn error metabolism characterized by abnormal cbl metabolism, intellectual disability, seizures, mild moderate craniofacial abnormalities. However, mechanisms...
Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, most common inborn error of intracellular cobalamin (vitamin B12) metabolism. is associated with neurodevelopmental, hematological, ocular, biochemical abnormalities. In a subset patients, mild craniofacial dysmorphia has also been described. Mouse models Mmachc deletion are embryonic lethal but severe phenotypes such as facial clefts. encodes an enzyme required for processing variants this result...