Padinjat Raghu

This study shows that dPIP4K regulates sugar homeostasis in Drosophila larvae by affecting glucose uptake, trehalose levels, and starvation survival.

This study shows that OCRL regulates lysosomal function and endolysosomal homeostasis in Drosophila nephrocytes by affecting PI(4,5)P2 homeostasis.

The paper presents a comprehensive genomic atlas of Indian populations, identifying novel variants and highlighting genetic diversity and pharmacogenomic implications.

This study identifies the developmental origin of seizures in Lowe syndrome by showing that docrl in neural stem cells during embryonic neurogenesis is required to prevent heat-induced seizures in Drosophila.

The paper shows that PIP4K regulates PI(3,4)P2 levels in Drosophila salivary gland cells through Class II PI3K activity, not directly via its catalytic function.

This study identifies enhanced Notch signaling and gliogenesis in Lowe syndrome patient-derived neural cultures, linked to OCRL dysfunction and neurodevelopmental defects.

This study shows that CERT in Drosophila transfers ceramide from ER to Golgi, regulating PLC signaling in photoreceptors and affecting light response.

This study identifies PIP4K as a conserved enzyme in early metazoans that regulates growth and development through insulin receptor signaling.

This study shows that Ca2+ binding to dEsyt modulates ER-PM MCS density in Drosophila photoreceptors, linking Ca2+ influx to signal transduction.

This study shows that the PH and PX domains of Drosophila PLD regulate its localization and activity in photoreceptors, with PH affecting localization and PX enhancing activity.

This study uses a Drosophila nephrocyte model to show that OCRL loss causes endolysosomal defects and kidney dysfunction, which can be rescued by human OCRL but not by mutant variants.

This study identifies suppressors of RDGB function in Drosophila and links them to novel lipids and ubiquitination processes in retinal degeneration and neurodevelopmental diseases.

This study investigates the structural and functional effects of missense mutations in MTM1, a gene linked to X-linked myotubular myopathy, using computational and experimental approaches.

This study uses whole exome sequencing in families with multiple affected individuals to identify rare variants in genes associated with both Mendelian and complex neuropsychiatric syndromes.

This study determines the minimum sample size needed for multisite harmonization using structural brain MRI features and shows how sample size requirements increase with site variability.

This study shows lithium inhibits IMPA1, reducing PIP2 resynthesis and calcium signaling in neural cells, leading to decreased neuronal excitability.

The paper analyzes whole exome sequencing data from individuals with severe mental illness to identify genes under positive selection and their biological functions.

The paper identifies genetic variants contributing to clinical heterogeneity in Lowe syndrome by analyzing genomic data from affected family members.

This study shows that AP2 regulates Tkv internalization and recycling via Rab11 to control synaptic growth in Drosophila.

The paper introduces CRISPR-based tools to manipulate phosphoinositide signalling proteins in Drosophila and identifies new molecules involved in eye development.

The paper examines the relationship between adverse childhood experiences (ACEs) and the age of onset of psychiatric diagnoses in individuals from families with multiple affected members.

This study identifies a conserved metallophosphodiesterase in Drosophila that influences lifespan, with neuronal expression capable of rescuing lifespan defects.

The paper develops a database of coding variations from the Indian population to aid in understanding genotype-phenotype correlations and disease mechanisms.

This study shows that PIP4K regulates PIP3 levels and insulin sensitivity in Drosophila, affecting metabolism and development.