|
1
|
Tsang SH and Sharma T: Progressive cone
dystrophy and cone-rod dystrophy (XL, AD, and AR). Adv Exp Med
Biol. 1085:53–60. 2018.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Gill JS, Georgiou M, Kalitzeos A, Moore AT
and Michaelides M: Progressive cone and cone-rod dystrophies:
Clinical features, molecular genetics and prospects for therapy. Br
J Ophthalmol. 103:711–720. 2019.PubMed/NCBI View Article : Google Scholar : (Epub ahead of
print).
|
|
3
|
Zheng X, Hu Z, Li H and Yang J: Structure
of the human cone photoreceptor cyclic nucleotide-gated channel.
Nat Struct Mol Biol. 29:40–46. 2022.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Sun W and Zhang Q: Diseases associated
with mutations in CNGA3: Genotype-phenotype correlation and
diagnostic guideline. Prog Mol Biol Transl Sci. 161:1–27.
2019.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Shaikh RS, Reuter P, Sisk RA, Kausar T,
Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B
and Ahmed ZM: Homozygous missense variant in the human CNGA3
channel causes cone-rod dystrophy. Eur J Hum Genet. 23:473–480.
2015.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Li H, Handsaker B, Wysoker A, Fennell T,
Ruan J, Homer N, Marth G, Abecasis G and Durbin R: 1000 Genome
Project Data Processing Subgroup. The sequence alignment/map format
and SAMtools. Bioinformatics. 25:2078–2079. 2009.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Wang K, Li M and Hakonarson H: ANNOVAR:
Functional annotation of genetic variants from high-throughput
sequencing data. Nucleic Acids Res. 38(e164)2010.PubMed/NCBI View Article : Google Scholar
|
|
8
|
1000 Genomes Project Consortium. Auton A,
Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL,
McCarthy S, McVean GA and Abecasis GR: A global reference for human
genetic variation. Nature. 526:68–74. 2015.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Karczewski KJ, Francioli LC, Tiao G,
Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A,
Birnbaum DP, et al: The mutational constraint spectrum quantified
from variation in 141,456 humans. Nature. 581:434–443.
2020.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Sim NL, Kumar P, Hu J, Henikoff S,
Schneider G and Ng PC: SIFT web server: Predicting effects of amino
acid substitutions on proteins. Nucleic Acids Res. 40 (Web Server
Issue):W452–W457. 2012.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Adzhubei IA, Schmidt S, Peshkin L,
Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A
method and server for predicting damaging missense mutations. Nat
Methods. 7:248–249. 2010.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Steinhaus R, Proft S, Schuelke M, Cooper
DN, Schwarz JM and Seelow D: MutationTaster2021. Nucleic Acids Re.
49 (W1):W446–W451. 2021.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Rentzsch P, Witten D, Cooper GM, Shendure
J and Kircher M: CADD: Predicting the deleteriousness of variants
throughout the human genome. Nucleic Acids Res. 47 (D1):D886–D894.
2019.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Ratnapriya R, Sosina OA, Starostik MR,
Kwicklis M, Kapphahn RJ, Fritsche LG, Walton A, Arvanitis M, Gieser
L, Pietraszkiewicz A, et al: Retinal transcriptome and eQTL
analyses identify genes associated with age-related macular
degeneration. Nat Genet. 51:606–610. 2019.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Yao Y, Fu J, Li L, Chen W, Meng Z, Su H
and Dai W: Retinal and circumpapillary nerve fiber layer thickness
and associated factors in children. Eye (Lond). 35:2802–2811.
2021.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Hansen MC, Haferlach T and Nyvold CG: A
decade with whole exome sequencing in haematology. Br J Haematol.
188:367–382. 2020.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Kaupp UB and Seifert R: Cyclic
nucleotide-gated ion channels. Physiol Rev. 82:769–824.
2002.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Hornbeck PV, Zhang B, Murray B, Kornhauser
JM, Latham V and Skrzypek E: PhosphoSitePlus, 2014: Mutations, PTMs
and recalibrations. Nucleic Acids Res. 43(Database
Issue):D512–D520. 2015.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Hardman G, Perkins S, Brownridge PJ,
Clarke CJ, Byrne DP, Campbell AE, Kalyuzhnyy A, Myall A, Eyers PA,
Jones AR and Eyers CE: Strong anion exchange-mediated
phosphoproteomics reveals extensive human non-canonical
phosphorylation. EMBO J. 38(e100847)2019.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Zhang Y, He X, Zou J, Yang J, Ma A and Tan
M: Phosphorylation mutation impairs the promoting effect of spastin
on neurite outgrowth without affecting its microtubule severing
ability. Eur J Histochem. 67(3594)2023.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Kaushik S and Cuervo AM: AMPK-dependent
phosphorylation of lipid droplet protein PLIN2 triggers its
degradation by CMA. Autophagy. 12:432–438. 2016.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Michaelides M, Hunt DM and Moore AT: The
cone dysfunction syndromes. Br J Ophthalmol. 88:291–297.
2004.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Michaelides M, Hardcastle AJ, Hunt DM and
Moore AT: Progressive cone and cone-rod dystrophies: Phenotypes and
underlying molecular genetic basis. Surv Ophthalmol. 51:232–258.
2006.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Michaelides M, Aligianis IA, Ainsworth JR,
Good P, Mollon JD, Maher ER, Moore AT and Hunt DM: Progressive cone
dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis
Sci. 45:1975–1982. 2004.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Wycisk KA, Zeitz C, Feil S, Wittmer M,
Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S and
Berger W: Mutation in the auxiliary calcium-channel subunit
CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet.
79:973–977. 2006.PubMed/NCBI View
Article : Google Scholar
|
|
26
|
Fujinami K, Zernant J, Chana RK, Wright
GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets
R, et al: Clinical and molecular characteristics of childhood-onset
Stargardt disease. Ophthalmology. 122:326–334. 2015.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Xu K, Xie Y, Sun T, Zhang X, Chen C and Li
Y: Genetic and clinical findings in a Chinese cohort with Leber
congenital amaurosis and early onset severe retinal dystrophy. Br J
Ophthalmol. 104:932–937. 2020.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Wissinger B, Gamer D, Jägle H, Giorda R,
Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T,
et al: CNGA3 mutations in hereditary cone photoreceptor disorders.
Am J Hum Genet. 69:722–737. 2001.PubMed/NCBI View
Article : Google Scholar
|
|
29
|
Huang L, Xiao X, Li S, Jia X, Wang P, Sun
W, Xu Y, Xin W, Guo X and Zhang Q: Molecular genetics of cone-rod
dystrophy in Chinese patients: New data from 61 probands and
mutation overview of 163 probands. Exp Eye Res. 146:252–258.
2016.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Kuniyoshi K, Muraki-Oda S, Ueyama H,
Toyoda F, Sakuramoto H, Ogita H, Irifune M, Yamamoto S, Nakao A,
Tsunoda K, et al: Novel mutations in the gene for α-subunit of
retinal cone cyclic nucleotide-gated channels in a Japanese patient
with congenital achromatopsia. Jpn J Ophthalmol. 60:187–197.
2016.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Thiadens AAHJ, Roosing S, Collin RWJ, van
Moll-Ramirez N, van Lith-Verhoeven JJC, van Schooneveld MJ, den
Hollander AI, van den Born LI, Hoyng CB, Cremers FPM and Klaver
CCW: Comprehensive analysis of the achromatopsia genes CNGA3 and
CNGB3 in progressive cone dystrophy. Ophthalmology. 117:825–830.e1.
2010.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Li S, Huang L, Xiao X, Jia X, Guo X and
Zhang Q: Identification of CNGA3 mutations in 46 families: Common
cause of achromatopsia and cone-rod dystrophies in Chinese
patients. JAMA Ophthalmol. 132:1076–1083. 2014.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Saqib MA, Nikopoulos K, Ullah E, Sher Khan
F, Iqbal J, Bibi R, Jarral A, Sajid S, Nishiguchi KM, Venturini G,
et al: Homozygosity mapping reveals novel and known mutations in
Pakistani families with inherited retinal dystrophies. Sci Rep.
5(9965)2015.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Liu C and Varnum MD: Functional
consequences of progressive cone dystrophy-associated mutations in
the human cone photoreceptor cyclic nucleotide-gated channel CNGA3
subunit. Am J Physiol Cell Physiol. 289:C187–C198. 2005.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Muraki-Oda S, Toyoda F, Okada A, Tanabe S,
Yamade S, Ueyama H, Matsuura H and Ohji M: Functional analysis of
rod monochromacy-associated missense mutations in the CNGA3 subunit
of the cone photoreceptor cGMP-gated channel. Biochem Biophys Res
Commun. 362:88–93. 2007.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Zelinger L, Cideciyan AV, Kohl S, Schwartz
SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, et
al: Genetics and disease expression in the CNGA3 form of
achromatopsia: Steps on the path to gene therapy. Ophthalmology.
122:997–1007. 2015.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Kohl S, Marx T, Giddings I, Jägle H,
Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT and Wissinger
B: Total colourblindness is caused by mutations in the gene
encoding the alpha-subunit of the cone photoreceptor cGMP-gated
cation channel. Nat Genet. 19:257–259. 1998.PubMed/NCBI View
Article : Google Scholar
|
|
38
|
Nishiguchi KM, Sandberg MA, Gorji N,
Berson EL and Dryja TP: Cone cGMP-gated channel mutations and
clinical findings in patients with achromatopsia, macular
degeneration, and other hereditary cone diseases. Hum Mutat.
25:248–258. 2005.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Koeppen K, Reuter P, Ladewig T, Kohl S,
Baumann B, Jacobson SG, Plomp AS, Hamel CP, Janecke AR and
Wissinger B: Dissecting the pathogenic mechanisms of mutations in
the pore region of the human cone photoreceptor cyclic
nucleotide-gated channel. Hum Mutat. 31:830–839. 2010.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Azam M, Collin RW, Shah ST, Shah AA, Khan
MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, et al:
Novel CNGA3 and CNGB3 mutations in two Pakistani families with
achromatopsia. Mol Vis. 16:774–781. 2010.PubMed/NCBI
|
|
41
|
Thapa A, Morris L, Xu J, Ma H, Michalakis
S, Biel M and Ding XQ: Endoplasmic reticulum stress-associated cone
photoreceptor degeneration in cyclic nucleotide-gated channel
deficiency. J Biol Chem. 287:18018–18029. 2012.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Paquet-Durand F, Beck S, Michalakis S,
Goldmann T, Huber G, Mühlfriedel R, Trifunović D, Fischer MD, Fahl
E, Duetsch G, et al: A key role for cyclic nucleotide gated (CNG)
channels in cGMP-related retinitis pigmentosa. Hum Mol Genet.
20:941–947. 2011.PubMed/NCBI View Article : Google Scholar
|
|
43
|
Xu J, Morris L, Thapa A, Ma H, Michalakis
S, Biel M, Baehr W, Peshenko IV, Dizhoor AM and Ding XQ: cGMP
accumulation causes photoreceptor degeneration in CNG channel
deficiency: Evidence of cGMP cytotoxicity independently of enhanced
CNG channel function. J Neurosci. 33:14939–14948. 2013.PubMed/NCBI View Article : Google Scholar
|
|
44
|
Yau KW: Cyclic nucleotide-gated channels:
An expanding new family of ion channels. Proc Natl Acad Sci USA.
91:3481–3483. 1994.PubMed/NCBI View Article : Google Scholar
|
|
45
|
Nakamura T and Gold GH: A cyclic
nucleotide-gated conductance in olfactory receptor cilia. Nature.
325:442–444. 1987.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Tanaka JC, Eccleston JF and Furman RE:
Photoreceptor channel activation by nucleotide derivatives.
Biochemistry. 28:2776–2784. 1989.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN,
Mitchell TN, Silva ED and Maumenee IH: Genetic basis of total
colourblindness among the Pingelapese islanders. Nat Genet.
25:289–293. 2000.PubMed/NCBI View
Article : Google Scholar
|
|
48
|
Georgiou M, Fujinami K and Michaelides M:
Retinal imaging in inherited retinal diseases. Ann Eye Sci.
5(25)2020.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Lima LH, Sallum JMF and Spaide RF: Outer
retina analysis by optical coherence tomography in cone-rod
dystrophy patients. Retina. 33:1877–1880. 2013.PubMed/NCBI View Article : Google Scholar
|
|
50
|
Cho SC, Woo SJ, Park KH and Hwang JM:
Morphologic characteristics of the outer retina in cone dystrophy
on spectral-domain optical coherence tomography. Korean J
Ophthalmol. 27:19–27. 2013.PubMed/NCBI View Article : Google Scholar
|
|
51
|
Inui E, Oishi A, Oishi M, Ogino K,
Makiyama Y, Gotoh N, Kurimoto M and Yoshimura N: Tomographic
comparison of cone-rod and rod-cone retinal dystrophies. Graefes
Arch Clin Exp Ophthalmol. 252:1065–1069. 2014.PubMed/NCBI View Article : Google Scholar
|
|
52
|
Hamel CP: Cone rod dystrophies. Orphanet J
Rare Dis. 2(7)2007.PubMed/NCBI View Article : Google Scholar
|
|
53
|
Sahel JA, Marazova K and Audo I: Clinical
characteristics and current therapies for inherited retinal
degenerations. Cold Spring Harb Perspect Med.
5(a017111)2014.PubMed/NCBI View Article : Google Scholar
|
|
54
|
Prado DA, Acosta-Acero M and Maldonado RS:
Gene therapy beyond luxturna: A new horizon of the treatment for
inherited retinal disease. Curr Opin Ophthalmol. 31:147–154.
2020.PubMed/NCBI View Article : Google Scholar
|
|
55
|
Maeder ML, Stefanidakis M, Wilson CJ,
Baral R, Barrera LA, Bounoutas GS, Bumcrot D, Chao H, Ciulla DM,
DaSilva JA, et al: Development of a gene-editing approach to
restore vision loss in Leber congenital amaurosis type 10. Nat Med.
25:229–233. 2019.PubMed/NCBI View Article : Google Scholar
|
|
56
|
Farrar GJ, Millington-Ward S, Chadderton
N, Humphries P and Kenna PF: Gene-based therapies for dominantly
inherited retinopathies. Gene Ther. 19:137–144. 2012.PubMed/NCBI View Article : Google Scholar
|
|
57
|
Han Z, Conley SM, Makkia RS, Cooper MJ and
Naash MI: DNA nanoparticle-mediated ABCA4 delivery rescues
Stargardt dystrophy in mice. J Clin Invest. 122:3221–3226.
2012.PubMed/NCBI View Article : Google Scholar
|
|
58
|
Sarra GM, Stephens C, de Alwis M,
Bainbridge JW, Smith AJ, Thrasher AJ and Ali RR: Gene replacement
therapy in the retinal degeneration slow (rds) mouse: The effect on
retinal degeneration following partial transduction of the retina.
Hum Mol Genet. 10:2353–2361. 2001.PubMed/NCBI View Article : Google Scholar
|
|
59
|
Russell S, Bennett J, Wellman JA, Chung
DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, et al:
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in
patients with RPE65-mediated inherited retinal dystrophy: A
randomised, controlled, open-label, phase 3 trial. Lancet.
390:849–860. 2017.PubMed/NCBI View Article : Google Scholar
|
|
60
|
Jiang L, Zhang H, Dizhoor AM, Boye SE,
Hauswirth WW, Frederick JM and Baehr W: Long-term RNA interference
gene therapy in a dominant retinitis pigmentosa mouse model. Proc
Natl Acad Sci USA. 108:18476–18481. 2011.PubMed/NCBI View Article : Google Scholar
|
|
61
|
Jiang L, Frederick JM and Baehr W: RNA
interference gene therapy in dominant retinitis pigmentosa and
cone-rod dystrophy mouse models caused by GCAP1 mutations. Front
Mol Neurosci. 7(25)2014.PubMed/NCBI View Article : Google Scholar
|
|
62
|
Jiang L, Li TZ, Boye SE, Hauswirth WW,
Frederick JM and Baehr W: RNAi-mediated gene suppression in a
GCAP1(L151F) cone-rod dystrophy mouse model. PLoS One.
8(e57676)2013.PubMed/NCBI View Article : Google Scholar
|
|
63
|
Ortín-Martínez A, Valiente-Soriano FJ,
García-Ayuso D, Alarcón-Martínez L, Jiménez-López M, Bernal-Garro
JM, Nieto-López L, Nadal-Nicolás FM, Villegas-Pérez MP, Wheeler LA
and Vidal-Sanz M: A novel in vivo model of focal light emitting
diode-induced cone-photoreceptor phototoxicity: neuroprotection
afforded by brimonidine, BDNF, PEDF or bFGF. PLoS One.
9(e113798)2014.PubMed/NCBI View Article : Google Scholar
|
|
64
|
Punzo C, Kornacker K and Cepko CL:
Stimulation of the insulin/mTOR pathway delays cone death in a
mouse model of retinitis pigmentosa. Nat Neurosci. 12:44–52.
2009.PubMed/NCBI View Article : Google Scholar
|
|
65
|
Aït-Ali N, Fridlich R, Millet-Puel G,
Clérin E, Delalande F, Jaillard C, Blond F, Perrocheau L, Reichman
S, Byrne LC, et al: Rod-derived cone viability factor promotes cone
survival by stimulating aerobic glycolysis. Cell. 161:817–832.
2015.PubMed/NCBI View Article : Google Scholar
|
|
66
|
Yang Y, Mohand-Said S, Danan A, Simonutti
M, Fontaine V, Clerin E, Picaud S, Léveillard T and Sahel JA:
Functional cone rescue by RdCVF protein in a dominant model of
retinitis pigmentosa. Mol Ther. 17:787–795. 2009.PubMed/NCBI View Article : Google Scholar
|
|
67
|
Johnson S, Michaelides M, Aligianis IA,
Ainsworth JR, Mollon JD, Maher ER, Moore AT and Hunt DM:
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J
Med Genet. 41(e20)2004.PubMed/NCBI View Article : Google Scholar
|
|
68
|
Ellingford JM, Barton S, Bhaskar S,
O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI,
Gillespie RL, Daiger SP, et al: Molecular findings from 537
individuals with inherited retinal disease. J Med Genet.
53:761–767. 2016.PubMed/NCBI View Article : Google Scholar
|
|
69
|
Reuter P, Koeppen K, Ladewig T, Kohl S,
Baumann B and Wissinger B: Achromatopsia Clinical Study Group.
Mutations in CNGA3 impair trafficking or function of cone cyclic
nucleotide-gated channels, resulting in achromatopsia. Hum Mutat.
29:1228–1236. 2008.PubMed/NCBI View Article : Google Scholar
|
|
70
|
Carss KJ, Arno G, Erwood M, Stephens J,
Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, et
al: Comprehensive rare variant analysis via whole-genome sequencing
to determine the molecular pathology of inherited retinal disease.
Am J Hum Genet. 100:75–90. 2017.PubMed/NCBI View Article : Google Scholar
|
