Publications by authors named "Hamid Reza Goldouzi"
Article Synopsis
- FLVCR1 is a protein involved in transporting essential compounds like heme and choline, with mutations linked to serious developmental disorders and neurodegenerative conditions in humans.
- Researchers identified 30 patients with biallelic FLVCR1 variants who displayed severe developmental issues, including brain malformations and other complications, paralleling symptoms seen in mouse models and conditions like Diamond-Blackfan anemia (DBA).
- The findings emphasize that FLVCR1 variants could cause a wide range of health problems, underscoring the need for diverse genetic testing and consideration of animal model data in understanding human genetic disorders.
encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While knockout mice die with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system.
View Article and Find Full Text PDFObjectives: Cerebral palsy (CP) is one of the most common causes of serious physical disability in childhood and is a persistent movement disorder before the age of three. This disorder can negatively affect both the child and their family. In recent years, the use of melatonin as a safe, effective, and cheap drug has been expanding in improving the sleep disorders of these children.
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