Aleshin AE, Zeng C, Bourenkov GP, Bartunik HD, Fromm HJ, Honzatko RB (1998) The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate. Structure 6:39–50

Article  CAS  PubMed  Google Scholar 

Ali MU, Rahman MSU, Cao J, Yuan PX (2017) Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario. 3 Biotech 7:251

Article  PubMed  PubMed Central  Google Scholar 

Aslanukov A, Bhowmick R, Guruju M, Oswald J, Raz D, Bush RA, Sieving PA, Lu X, Bock CB, Ferreira PA (2006) RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism. PLoS Genet 2:e177

Article  PubMed  PubMed Central  Google Scholar 

Chang S, Vaccarella L, Olatunji S, Cebulla C, Christoforidis J (2011) Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability. Curr Genomics 12:267–275

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chinchore Y, Begaj T, Wu D, Drokhlyansky E, Cepko CL (2017) Glycolytic reliance promotes anabolism in photoreceptors. Elife 6:e25946

Article  PubMed  PubMed Central  Google Scholar 

De Jesus A, Keyhani-Nejad F, Pusec CM, Goodman L, Geier JA, Stoolman JS, Stanczyk PJ, Nguyen T, Xu K, Suresh KV et al (2022) Hexokinase 1 cellular localization regulates the metabolic fate of glucose. Mol Cell 82:1261–1277e9

Article  PubMed  PubMed Central  Google Scholar 

Dryja TP, Hahn LB, Kajiwara K, Berson EL (1997) Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci 38:1972–1982

CAS  PubMed  Google Scholar 

Fahim AT, Daiger SP, Weleber RG (2000) Nonsyndromic Retinitis Pigmentosa Overview. In: Adam MP (ed) et. al., GeneReviews®. University of Washington, Seattle

Google Scholar 

Hantke J, Chandler D, King R, Wanders RJ, Angelicheva D, Tournev I, McNamara E, Kwa M, Guergueltcheva V, Kaneva R et al (2009) A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). Eur J Hum Genet 17:1606–1614

Article  CAS  PubMed  PubMed Central  Google Scholar 

Irwin DM, Tan H (2014) Evolution of glucose utilization: glucokinase and glucokinase regulator protein. Mol Phylogenet Evol 70:195–203

Article  CAS  PubMed  Google Scholar 

Kajiwara K, Berson EL, Dryja TP (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604–1608

Article  CAS  PubMed  Google Scholar 

Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC et al (2019) De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet 27:1081–1089

Article  PubMed  PubMed Central  Google Scholar 

Rajala A, Gupta VK, Anderson RE, Rajala RV (2013) Light activation of the insulin receptor regulates mitochondrial hexokinase. A possible mechanism of retinal neuroprotection. Mitochondrion 13:566–576

Article  CAS  PubMed  Google Scholar 

Reidel B, Thompson JW, Farsiu S, Moseley MA, Skiba NP, Arshavsky VY (2011) Proteomic profiling of a layered tissue reveals unique glycolytic specializations of photoreceptor cells. Mol Cell Proteom 10:M110002469

Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424

Article  PubMed  PubMed Central  Google Scholar 

Sato S, Morimoto T, Hotta K, Fujikado T, Nishida K (2019) Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation. Ophthalmic Genet 40:466–469

Article  CAS  PubMed  Google Scholar 

Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C (2013) Genetics of the Charcot-Marie-Tooth disease in the Spanish gypsy population: the hereditary motor and sensory neuropathy-russe in depth. Clin Genet 83:565–570

Article  CAS  PubMed  Google Scholar 

Shah SM, Schimmenti LA, Chiang J, Iezzi R (2022) Association of pigmented paravenous retinochoroidal atrophy with a pathogenic variant in the HK1 gene. Retin Cases Brief Rep 16:770–774

Article  PubMed  Google Scholar 

Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH et al (2014) A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci 55:7147–7158

Article  CAS  PubMed  PubMed Central  Google Scholar 

van Wijk R, Rijksen G, Huizinga EG, Nieuwenhuis HK, van Solinge WW (2003) HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. Blood 101:345–347

Article  PubMed  Google Scholar 

Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ et al (2022) Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism. Nat Genet 54:1615–1620

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang F, Wang Y, Zhang B, Zhao L, Lyubasyuk V, Wang K, Xu M, Li Y, Wu F, Wen C et al (2014) A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 55:7159–7164

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong LC et al (2017) The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep 7:7051

Article  PubMed  PubMed Central  Google Scholar 

Zhang Q (2016) Retinitis Pigmentosa: Progress and Perspective. Asia Pac J Ophthalmol (Phila) 5:265–271

Article  CAS  PubMed  Google Scholar