Naheed Kanuga
Overview
Explore the profile of Naheed Kanuga including associated specialties, affiliations and a list of published articles.
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22
Citations
972
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Recent Articles
1.
Athanasiou D, Afanasyeva T, Chai N, Ziaka K, Jovanovic K, Guarascio R, et al.
Acta Neuropathol Commun
. 2025 Feb;
13(1):26.
PMID: 39934925
Bialleleic pathogenic variants in LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report the...
2.
Athanasiou D, Bevilacqua D, Aguila M, McCulley C, Kanuga N, Iwawaki T, et al.
Hum Mol Genet
. 2020 Sep;
29(19):3338-3339.
PMID: 32984884
No abstract available.
3.
Athanasiou D, Aguila M, Bellingham J, Kanuga N, Adamson P, Cheetham M
Hum Mol Genet
. 2017 Oct;
26(24):4896-4905.
PMID: 29036441
Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness caused by the dysfunction and death...
4.
Athanasiou D, Aguila M, Opefi C, South K, Bellingham J, Bevilacqua D, et al.
Hum Mol Genet
. 2017 Jan;
26(2):305-319.
PMID: 28065882
Protein misfolding caused by inherited mutations leads to loss of protein function and potentially toxic 'gain of function', such as the dominant P23H rhodopsin mutation that causes retinitis pigmentosa (RP)....
5.
Parfitt D, Lane A, Ramsden C, Carr A, Munro P, Jovanovic K, et al.
Cell Stem Cell
. 2016 May;
18(6):769-781.
PMID: 27151457
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and...
6.
Schwarz N, Carr A, Lane A, Moeller F, Chen L, Aguila M, et al.
Hum Mol Genet
. 2014 Oct;
24(4):972-86.
PMID: 25292197
Mutations in the RP2 gene lead to a severe form of X-linked retinitis pigmentosa. RP2 patients frequently present with nonsense mutations and no treatments are currently available to restore RP2...
7.
Gardner J, Liew G, Quan Y, Ermetal B, Ueyama H, Davidson A, et al.
Hum Mutat
. 2014 Aug;
35(11):1354-62.
PMID: 25168334
Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22...
8.
Athanasiou D, Bevilacqua D, Aguila M, McCulley C, Kanuga N, Iwawaki T, et al.
Hum Mol Genet
. 2014 Jul;
23(24):6594-606.
PMID: 25055872
Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of autosomal dominant retinitis pigmentosa (ADRP). Many rod opsin mutations, such as P23H, lead to misfolding...
9.
Aguila M, Bevilacqua D, McCulley C, Schwarz N, Athanasiou D, Kanuga N, et al.
Hum Mol Genet
. 2013 Dec;
23(8):2164-75.
PMID: 24301679
The molecular chaperone Hsp90 is important for the functional maturation of many client proteins, and inhibitors are in clinical trials for multiple indications in cancer. Hsp90 inhibition activates the heat...
10.
Novoselov S, Mustill W, Gray A, Dick J, Kanuga N, Kalmar B, et al.
PLoS One
. 2013 Sep;
8(8):e73944.
PMID: 24023695
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the selective loss of motor neurons in the spinal cord, brain stem, and motor cortex. Mutations in superoxide dismutase...