Badawi S, Ali BR. ACE2 nascence, trafficking, and SARS-CoV-2 pathogenesis: the saga continues. Hum Genomics. 2021;15(1):8.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Bai Y, Yao L, Wei T, Tian F, Jin DY, Chen L, et al. Presumed asymptomatic carrier transmission of COVID-19. JAMA. 2020;323(14):1406–7.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Zhang J, Wang X, Jia X, Li J, Hu K, Chen G, et al. Risk factors for disease severity, unimprovement, and mortality in COVID-19 patients in Wuhan, China. Clin Microbiol Infect. 2020;26(6):767–72.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Richardson S, Hirsch JS, Narasimhan M, Crawford JM, McGinn T, Davidson KW, et al. Presenting characteristics, comorbidities, and outcomes among 5700 patients hospitalized with COVID-19 in the New York City area. JAMA. 2020;323(20):2052–9.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Pereira NL, Ahmad F, Byku M, Cummins NW, Morris AA, Owens A, et al. COVID-19: understanding inter-individual variability and implications for precision medicine. Mayo Clin Proc. 2021;96(2):446–63.

CAS  PubMed  Article  Google Scholar 

Suryamohan K, Diwanji D, Stawiski EW, Gupta R, Miersch S, Liu J, et al. Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2. Commun Biol. 2021;4(1):1–11.

Article  CAS  Google Scholar 

Jia H, Neptune E, Cui H. Targeting ACE2 for COVID-19 therapy: opportunities and challenges. Am J Respir Cell Mol Biol. 2021;64(4):416–25.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Cao Y, Li L, Feng Z, Wan S, Huang P, Sun X, et al. Comparative genetic analysis of the novel coronavirus (2019-nCoV/SARS-CoV-2) receptor ACE2 in different populations. Cell Discov. 2020;6(1):1–4.

Article  CAS  Google Scholar 

Benetti E, Tita R, Spiga O, Ciolfi A, Birolo G, Bruselles A, et al. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. Eur J Hum Genet. 2020;28(11):1602–14.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Novelli A, Biancolella M, Borgiani P, Cocciadiferro D, Colona VL, D’Apice MR, et al. Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients. Hum Genomics. 2020;14(1):29.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Liu X, Yang N, Tang J, Liu S, Luo D, Duan Q, et al. Downregulation of angiotensin-converting enzyme 2 by the neuraminidase protein of influenza A (H1N1) virus. Virus Res. 2014;24(185):64–71.

Article  CAS  Google Scholar 

Saih A, Baba H, Bouqdayr M, Ghazal H, Hamdi S, Kettani A, et al. In Silico analysis of high-risk missense variants in human ACE2 gene and susceptibility to SARS-CoV-2 infection. BioMed Res Int. 2021;9(2021):e6685840.

Google Scholar 

Chen F, Zhang Y, Li X, Li W, Liu X, Xue X. The impact of ACE2 polymorphisms on COVID-19 disease: susceptibility, severity, and therapy. Front Cell Infect Microbiol. 2021. https://doi.org/10.3389/fcimb.2021.753721.

Article  PubMed  PubMed Central  Google Scholar 

Kizhakkedath P, John A, Al-Sawafi BK, Al-Gazali L, Ali BR. Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia. FEBS Open Bio. 2019;9(11):1994–2005.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Fukuda R, Okiyoneda T. Cystic fibrosis transmembrane conductance regulator (CFTR) ubiquitylation as a novel pharmaceutical target for cystic fibrosis. Pharmaceuticals. 2020;13(4):75.

CAS  PubMed Central  Article  Google Scholar 

Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Gazali L, Al-Dirbashi O, Al-Jasmi F, et al. The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis. Hum Genet. 2020;139(5):657–73.

CAS  PubMed  Article  Google Scholar 

Needham PG, Guerriero CJ, Brodsky JL. Chaperoning endoplasmic reticulum-associated degradation (ERAD) and protein conformational diseases. Cold Spring Harb Perspect Biol. 2019;11(8):a033928.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Gariballa N, Ali BR. Endoplasmic reticulum associated protein degradation (ERAD) in the pathology of diseases related to TGFβ signaling pathway: future therapeutic perspectives. Front Mol Biosci. 2020;7:575608.

CAS  PubMed  PubMed Central  Article  Google Scholar 

de Oliveira RM, Marijanovic Z, Carvalho F, Miltényi GM, Matos JE, Tenreiro S, et al. Impaired proteostasis contributes to renal tubular dysgenesis. PLoS ONE. 2011;6(6):e20854.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Vaser R, Adusumalli S, Leng SN, Sikic M, Ng PC. SIFT missense predictions for genomes. Nat Protoc. 2016;11(1):1–9.

CAS  PubMed  Article  Google Scholar 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248–9.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and Indels. PLoS ONE. 2012;7(10):e46688.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361–2.

CAS  PubMed  Article  Google Scholar 

Capriotti E, Fariselli P, Casadio R. I-Mutant20: predicting stability changes upon mutation from the protein sequence or structure. Nucl Acids Res. 2005;1(33):W306-310.

Article  CAS  Google Scholar 

Zhang Y. I-TASSER server for protein 3D structure prediction. BMC Bioinform. 2008;23(9):40.

CAS  Article  Google Scholar 

Waterhouse A, Bertoni M, Bienert S, Studer G, Tauriello G, Gumienny R, et al. SWISS-MODEL: homology modelling of protein structures and complexes. Nucleic Acids Res. 2018;46(W1):W296-303.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, et al. Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. Hum Mol Genet. 2009;18(2):267–77.

CAS  PubMed  Article  Google Scholar 

Schneider CA, Rasband WS, Eliceiri KW. NIH Image to ImageJ: 25 years of Image Analysis. Nat Methods. 2012;9(7):671–5.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Rowland R, Brandariz-Nuñez A. Analysis of the role of N-linked glycosylation in cell surface expression, function, and binding properties of SARS-CoV-2 receptor ACE2. Microbiol Spectr. 2021;9(2):e01199-21.

CAS  PubMed Central  Article  Google Scholar 

Mehdipour AR, Hummer G. Dual nature of human ACE2 glycosylation in binding to SARS-CoV-2 spike. Proc Natl Acad Sci USA. 2021;118(19):e2100425118.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Al-Mulla F, Mohammad A, Al Madhoun A, Haddad D, Ali H, Eaaswarkhanth M, et al. ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: a time to implement precision medicine against COVID-19. Heliyon. 2021;7(2):e06133.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Ortiz-Fernández L, Sawalha AH. Genetic variability in the expression of the SARS-CoV-2 host cell entry factors across populations. Genes Immun. 2020;21(4):269–72.

PubMed  PubMed Central  Article  CAS  Google Scholar 

Hou Y, Zhao J, Martin W, Kallianpur A, Chung MK, Jehi L, et al. New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis. BMC Med. 2020;15(18):216.

Article  CAS  Google Scholar 

Ren W, Zhu Y, Lan J, Chen H, Wang Y, Shi H, et al. Susceptibilities of human ACE2 genetic variants in coronavirus infection. J Virol. 2022;96(1):e0149221.

PubMed  Article  Google Scholar 

Sorokina M, Teixeira J, Barrera-Vilarmau S, Paschke R, Papasotiriou I, Rodrigues JPGLM, et al. Structural models of human ACE2 variants with SARS-CoV-2 Spike protein for structure-based drug design. Sci Data. 2020;7(1):309.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Heinzelman P, Romero PA. Discovery of human ACE2 variants with altered recognition by the SARS-CoV-2 spike protein. PLoS ONE. 2021;16(5):e0251585.

CAS  PubMed  PubMed Central  Article  Google Scholar 

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.