Jana Narasimhan
Overview
Explore the profile of Jana Narasimhan including associated specialties, affiliations and a list of published articles.
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Articles
27
Citations
1046
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0
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Recent Articles
1.
Voronin G, Narasimhan J, Gittens J, Sheedy J, Lipari P, Peters M, et al.
Mol Ther
. 2024 Jul;
32(10):3331-3345.
PMID: 39033321
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a rare neurodevelopmental disorder caused by a mutation in the X-linked CDKL5 gene. CDKL5 is a serine/threonine kinase that is critical for...
2.
Schultz A, Cheng S, Kirchner E, Costello S, Miettinen H, Chaverra M, et al.
Sci Rep
. 2023 Oct;
13(1):18600.
PMID: 37903840
Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene. The reduction in ELP1 mRNA and...
3.
Liu G, Lipari P, Mollin A, Jung S, Teplova I, Li W, et al.
Hum Mol Genet
. 2023 Oct;
33(3):211-223.
PMID: 37819629
Duchenne muscular dystrophy (DMD) is a progressive disabling X-linked recessive disorder that causes gradual and irreversible loss of muscle, resulting in early death. The corticosteroids prednisone/prednisolone and deflazacort are used...
4.
Schultz A, Cheng S, Kirchner E, Costello S, Miettinen H, Chaverra M, et al.
bioRxiv
. 2023 Jun;
PMID: 37293016
Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 ( ) gene. The reduction in ELP1 mRNA...
5.
Morini E, Chekuri A, Logan E, Bolduc J, Kirchner E, Salani M, et al.
Am J Hum Genet
. 2023 Feb;
110(3):531-547.
PMID: 36809767
Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a splicing mutation in elongator acetyltransferase complex subunit 1 (ELP1). This mutation leads to the skipping of exon 20 and...
6.
Zaworski P, Schwartz R, Burr J, Skutnik D, Mollin A, Kumar B, et al.
Anal Biochem
. 2022 Sep;
656:114876.
PMID: 36058293
Paired box protein Pax-6 (oculothrombin) is a transcription factor that plays an important regulatory role in ocular, brain, and pancreatic development. Mutations of the PAX6 gene cause aniridia and Peters...
7.
Narasimhan J, Letinski S, Jung S, Gerasyuto A, Wang J, Arnold M, et al.
Elife
. 2022 Feb;
11.
PMID: 35137690
Antibiotic-resistant ) are an emerging public health threat due to increasing numbers of multidrug resistant (MDR) organisms. We identified two novel orally active inhibitors, PTC-847 and PTC-672, that exhibit a...
8.
Bhattacharyya A, Trotta C, Narasimhan J, Wiedinger K, Li W, Effenberger K, et al.
Nat Commun
. 2021 Dec;
12(1):7299.
PMID: 34911927
Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin (HTT) gene. Consequently, the mutant protein is ubiquitously expressed and drives...
9.
Zhao X, Feng Z, Risher N, Mollin A, Sheedy J, Ling K, et al.
Hum Mol Genet
. 2021 Aug;
31(1):82-96.
PMID: 34368854
Spinal muscular atrophy (SMA) is caused by the loss of the survival motor neuron 1 (SMN1) gene function. The related SMN2 gene partially compensates but produces insufficient levels of SMN...
10.
Gao D, Morini E, Salani M, Krauson A, Chekuri A, Sharma N, et al.
Nat Commun
. 2021 Jun;
12(1):3332.
PMID: 34099697
Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing due to mutation lead to dysregulated protein expression and contribute to a substantial fraction of human disease....