Publications by authors named "Neelam Fatima"
SGIP1 encodes a protein Src homology 3-domain growth factor receptor-bound 2-like endophilin interacting protein 1. It is involved in the regulation of clathrin-mediated endocytosis along with having a role in energy homeostasis in neuronal systems. We generated an isogenic human induced pluripotent stem cell (iPSC) line with a biallelic frameshift variant in SGIP1.
View Article and Find Full Text PDFIntellectual disability (ID) is a diverse neurodevelopmental condition and almost half of the cases have a genetic etiology. SGIP1 acts as an endocytic protein that influences the signaling of receptors in neuronal systems related to energy homeostasis through its interaction with endophilins. This study focuses on the generation and characterization of induced pluripotent stem cells (iPSC) from two unrelated patients due to a frameshift variant (c.
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- Researchers identified a new autosomal recessive neurodevelopmental disorder linked to biallelic variants in the TMEM222 gene in 17 individuals from nine families.
- The study used exome sequencing and gene matching tools to detect these pathogenic variants, along with RT-qPCR to analyze gene expression.
- Findings indicate that TMEM222 is significantly expressed in the brain and plays a role in brain development and function, suggesting it contributes to the disorder's symptoms.