Lakshmi Akileswaran

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The genetic locus for incomplete congenital stationary night blindness (CSNB2) has been identified as the CACNA1f gene, encoding the alpha 1F calcium channel subunit, a member of the L-type family of calcium channels. The electroretinogram associated with CSNB2 implicates alpha 1F in synaptic transmission between retinal photoreceptors and bipolar cells.(More)
Uracil auxotrophs of Phanerochaete chrysosporium were isolated using 5-fluoroorotate resistance as a selection scheme. The ura3 auxotrophs deficient in orotidylate decarboxylase and ura5 auxotrophs deficient in orotate phosphoribosyl transferase were characterized by enzyme assays and complementation tests. The ura5 auxotrophs were transformed to(More)
The HLA-B27 gene is a major risk factor for clinical diseases including ankylosing spondylitis, acute anterior uveitis, reactive arthritis, and psoriatic arthritis, but its mechanism of risk enhancement is not completely understood. The gut microbiome has recently been shown to influence several HLA-linked diseases. However, the role of HLA-B27 in shaping(More)
Purpose To characterize the ocular surface microbiome of healthy volunteers using a combination of microbial culture and high-throughput DNA sequencing techniques. Methods Conjunctival swab samples from 107 healthy volunteers were analyzed by bacterial culture, 16S rDNA gene deep sequencing (n = 89), and biome representational in silico karyotyping(More)
A clone containing the Phanerochaete chrysosporium ade1 gene was isolated from a λEMBL3 genomic library using the ade5 gene encoding aminoimidazole ribonucleotide synthetase, from Schizophyllum commune, as a probe. A 6.0 kb fragment incorporating the ade1 gene was subcloned into pUC18 (pADE1) and used to transform the P. chrysosporium ade1 auxotrophic(More)
Although expansion of a polyglutamine tract in the huntingtin protein is known to cause Huntington’s disease (HD), there is considerable debate as to how this mutation leads to the selective neuronal loss that characterizes the disease. The observation that mutant huntingtin accumulates in neuronal nuclei has led to the hypothesis that the molecular(More)
Metagenomic characterization of complex biomes remains challenging. Here we describe a modification of digital karyotyping-biome representational in silico karyotyping (BRISK)-as a general technique for analyzing a defined representation of all DNA present in a sample. BRISK utilizes a Type IIB DNA restriction enzyme to create a defined representation of(More)
Intravenous (IV) heroin abuse in persons aged 12 has nearly doubled between the 2002 and 2012. Intravenous drug users (IVDU) are a high-risk group for developing endogenous fungal endophthalmitis (EFE), with Candida albicans being the most commonly identified causative organism. Endogenous fungal endophthalmitis is a potentially blinding disease in which(More)
Cryptochrome (CRY) is the primary circadian photoreceptor in Drosophila. It resets the circadian clock by promoting light-induced degradation of the clock proteins Timeless and Period, as well as its own proteolysis. The E3 ligases that ubiquitylate Timeless and Period before degradation are known and it is known that Drosophila (d) CRY is degraded by the(More)
Complete X-linked congenital stationary night blindness (CSNB1) is a hereditary visual disease characterized by abnormalities in both the dark- and light-adapted electroretinogram, consistent with a defect in synaptic transmission between photoreceptors and ON-bipolar cells. The gene responsible for CSNB1, NYX, encodes a novel, leucine-rich repeat protein,(More)